https://embryology.med.unsw.edu.au/embryology/api.php?action=feedcontributions&feedformat=atom&user=Z3265772 2026-10-04T20:41:41Z User contributions MediaWiki 1.39.10 https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3265772&diff=43223 2010-11-08T07:57:59Z

<p>Z3265772: /* Lab 2 Questions */</p> <hr /> <div>===Group 2===<br /> <br /> [[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> <br /> ==Attendance==<br /> <br /> Jill<br /> <br /> Lab 1. here--[[User:Z3265772|z3265772]] 23:43, 28 July 2010 (UTC)<br /> <br /> Lab 2. here--[[User:Z3265772|z3265772]] 22:57, 4 August 2010 (UTC)<br /> <br /> Lab 3. here--[[User:Z3265772|z3265772]] 23:14, 11 August 2010 (UTC)<br /> <br /> Lab 4. still here--[[User:Z3265772|z3265772]] 00:03, 19 August 2010 (UTC)<br /> <br /> Lab 5. always here--[[User:Z3265772|z3265772]] 23:06, 25 August 2010 (UTC)<br /> <br /> Lab 6. here--[[User:Z3265772|z3265772]] 23:54, 1 September 2010 (UTC)<br /> <br /> Lab 7. here--[[User:Z3265772|z3265772]] 23:08, 15 September 2010 (UTC)<br /> <br /> Lab 8. here--[[User:Z3265772|z3265772]] 23:13, 22 September 2010 (UTC)<br /> <br /> Lab 9. here--[[User:Z3265772|z3265772]] 23:18, 29 September 2010 (UTC)<br /> <br /> Lab 10. here--[[User:Z3265772|z3265772]] 22:05, 6 October 2010 (UTC)<br /> <br /> Lab 11. here--[[User:Z3265772|z3265772]] 22:25, 13 October 2010 (UTC)<br /> <br /> Lab 12. here for every lab :)--[[User:Z3265772|z3265772]] 22:17, 20 October 2010 (UTC)<br /> <br /> ==Lab Questions==<br /> <br /> ===Lab 1 Questions===<br /> <br /> Complete tasks associated with the online individual and group assessments including:<br /> <br /> 1. Demonstrate the ability to create an attendance signature.<br /> <br /> 2. Create a subheading, link and add an image to student page.<br /> <br /> learning to use page<br /> <br /> internal link [[2010_Lecture_2|Cell division]]<br /> <br /> external link [http://www.smh.com.au/ SMH]<br /> <br /> [[Fertilization|lecture 2]]<br /> <br /> picture<br /> <br /> [[File:Early_zygote.jpg|right]]<br /> <br /> ====Search Pubmed====<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed Now:''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> <br /> 3. Vote here (with student signature) for the major topic for the group project before Lab 2.<br /> <br /> ===Lab 2 Questions===<br /> <br /> 1. What factor do the synctiotrophoblast cells secrete to support the ongoing pregnancy?<br /> <br /> Syncytiotrophoblasts secrete Human Chorionic Gonadotropin (hCG) hormone, which prevents degeneration of the corpus luteum <br /> <br /> 2. What does the corpus luteum secrete to prevent continuation of the menstrual cycle?<br /> <br /> Oestrogen and Progesterone. Progesterone helps make the endometrial lining ready for implantation if an egg is fertilized. Progesterone also changes the endometrium to a secretory lining (from proliferative), which creates an ideal environment for the blastocyst.<br /> <br /> ===Lab 3 Questions===<br /> <br /> <br /> <br /> 1. What Carnegie stages occur during week 3 and week 4?<br /> <br /> Carnegie stages 7 (gastrulation and notochord formation) to 13 (Somite no. 21-29, caudal neuropore closes)<br /> <br /> 2. What is the change in overall embryo size form the beginning of week 3 to the end of week 4?<br /> <br /> embryo has grown 2.6mm to 4.6mm. (week 4. 3mm to 5mm - week 3. 0.4mm)<br /> <br /> 3. Approximately when do the cranial (anterior) and caudal (posterior) neuropores close in the human embryo? <br /> <br /> Cranial neuropore closes at carnegie stage 11, which is 23-26 days<br /> <br /> Caudal neuropore closes at carnegie stage 12-13, which is 26-30 days<br /> <br /> ===Lab 4 Questions===<br /> <br /> 1. Name the vessels that drain into the sinus venosus?<br /> <br /> the three venous inputs that drain into the sinus venosus are the vitelline vein, umbilical vein and common cardinal vein<br /> <br /> 2. What is the fate of the vitelline artery and vitelline vein?<br /> <br /> Vitelline arteries - arises from dorsal aorta, contribute to adult GIT arteries, fuse to become superior mesenteric artery<br /> <br /> Vitelline veins - empties into sinus venosus, contribute to the adult portal system<br /> <br /> 3. Name the 4 layers that constitute the placental barrier?<br /> <br /> syncitiotrophoblast, cytotrophoblast, villi connective tissue and fetal capillary endothelium<br /> <br /> 4. What stem cells are found in abundance, and may be harvested from the placenta for therapeutic uses?<br /> <br /> hematopoietic stem cells<br /> <br /> ===Lab 5 Questions===<br /> <br /> 1. What is the origin of the gastrointestinal tract smooth muscle? <br /> <br /> Splanchnic mesoderm<br /> <br /> 2. At what Carnegie stage does the buccopharyngeal membrane begin to break down? <br /> <br /> Carnegie stage 11<br /> <br /> 3. Identify the lung developmental stage in late embryonic to early fetal period. <br /> <br /> Lung development, budding of lungs from the trachea, starts to occur in Carnegie stage 22<br /> <br /> 4. In premature infant birth, which respiratory cell type may not have fully developed?<br /> <br /> Pnuemocytes type 2 (or alveolar type 2 cells) which produce surfactant.<br /> <br /> ===Lab 7 Questions===<br /> <br /> 1. Briefly; what is a myotube and how is it formed?<br /> <br /> Myoblasts are single cells that differentiate to form myotube. The myotube is multiple nuclei all bound by a single membrane a developing muscle cell or fiber with a centrally-located nucleus. Thus, the myotubes must have been formed from the fusion of numerous myoblasts<br /> <br /> 2. What changes would I expect to see in the muscle fibre types in my legs if I:<br /> <br /> a) Suffered a spinal cord injury: <br /> <br /> Atrophy: Reduction of slow fibres (type I) and conversion to fast twitch fibres (type II)<br /> <br /> b) Took up marathon running: <br /> <br /> Muscles would conversion from fast twitch(type II) to slow twitch fibres(type 1) <br /> <br /> <br /> ----<br /> <br /> ===Peer Review Task===<br /> <br /> '''Group 1:''' The layout is really easy to follow, everything seems to be in the right order and flow really well. i could easily follow what they had written. One thing i found especially impressive, was that they had taken the time to explain every image when you click on it. this would've taken a lot of time and effort that isn't immediately available to see, but helpful if you need to know more about the image, you just click on it. <br /> What could be improved: in one of the tables, under the heading minor signs of trisomies, pleuxs should be plexus. i didnt see any other spelling mistakes though. Also, it seems only one person has contributed most of the work, and there are three in the group. i found this to be the case for most pages.<br /> <br /> <br /> '''Group 3:''' <br /> This project is very well written, and easy to follow. i loved the disorders section, with the table, graph and pictures it made it really easy to follow, and interesting! when you see a picture like the anencephaly one, it makes you stop and read what its about! I also like how many student drawn diagrams there are, they have really put in a lot of effort. I definitely learnt a lot from reading this page.<br /> <br /> What could be improved: The ethics section has no references, also the current research section seems to be copied straight from the internet. there are also a few spelling mistakes in the ethics section - waranted=warranted, phsychological=psychological<br /> <br /> <br /> '''Group 4:'''<br /> Felicias drawings are amazing! they go into so much detail and she has clearly put in so much effort in doing them! That was the first thing i noticed when looking at the page. I actually really like the overall feel of the page, and the bigger pictures help. The first two pictures really caught my attention and made me want to read all about PUBS. I did like all the dot points, because they made it a little easier to follow, but maybe a little simplistic. <br /> <br /> Improvements: Under the sample analysis heading, they have put 'the' twice. just need to delete one. Under the disorders section, they have put that unlike PUBS, CVS and amniocentesis do test for neural tube defects. CVS doesnt test for neural tube defects, only amniocentesis. Alot of the page in not referenced. Other than that, awesome job!<br /> <br /> <br /> '''Group 5:'''<br /> I liked the fact that everything is referenced, it made me feel like they have really researched what they have put on there. The page is very informative, if not a little simplistic, but i learnt alot about fetal fibronectin. i liked the student drawn diagram!<br /> <br /> improvements: definitely extra pictures. If you cant find any that you can use, start emailing the companies, this is how i got most of our permissions, as i couldnt find any with permissions. as a last resort try wiki, all of their pictures arent copyright protected. Also, probably best to go through the criteria for the page, youve missed the history altogether. Here it is for you:<br /> project outline:<br /> <br /> 1. Intro<br /> <br /> 2. historic background<br /> <br /> 3. current associated research<br /> <br /> 4. simplified description of technique<br /> <br /> 5. student drawn figure or animation<br /> <br /> 6. reference list<br /> <br /> 7. glossary<br /> <br /> 8. external links<br /> <br /> <br /> '''Group 6:'''<br /> <br /> I like how the page is organised, its easy to follow and the layout was great. The pictures helped me with understanding the sections, although maybe they could be a bit bigger. I did learn alot about Maternal serum alpha-fetoprotein from this page, Thanks!<br /> <br /> Improvements: Under the heading MSAFP testing and the community, there is a spelling mistake. liklihood should be likelihood, and servey should be survey. The page also looks a bit like an essay, maybe for some parts you could do a few tables to make it easier to follow<br /> <br /> ----<br /> <br /> ===Lab 10 Questions===<br /> <br /> 1. Development of which endocrine organ is affected by low dietary iodine? <br /> <br /> Thyroid<br /> <br /> 2. What are the affects of this deficiency on other non-endocrine system development? <br /> <br /> leads to neurological defects (cretinism) as thyroid is needed for neural development, hypothyroidism, low body weight, poor muscle tone, low body temperature. <br /> <br /> 3. At approximately what week in development do many endocrine organs appear to begin their function?<br /> <br /> At around week 10 most endocrine organs begin secreting hormones<br /> <br /> ===Lab 12 Questions===<br /> <br /> 1. During which trimester does fetal length change the most and when does fetal weight change the most?<br /> <br /> Fetal length changes mostly in the second trimester, and fetal weight changes the most in the third trimester<br /> <br /> 2. What is the name of the theory that links postnatal health with prenatal development?<br /> <br /> Fetal origins hypothesis<br /> <br /> 3. Which hormone initiates and maintains labour during birth and where does it come from?<br /> <br /> Oxytocin from posterior pituitary</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3265772&diff=43127 2010-11-07T05:55:40Z

<p>Z3265772: /* Lab 7 Questions */</p> <hr /> <div>===Group 2===<br /> <br /> [[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> <br /> ==Attendance==<br /> <br /> Jill<br /> <br /> Lab 1. here--[[User:Z3265772|z3265772]] 23:43, 28 July 2010 (UTC)<br /> <br /> Lab 2. here--[[User:Z3265772|z3265772]] 22:57, 4 August 2010 (UTC)<br /> <br /> Lab 3. here--[[User:Z3265772|z3265772]] 23:14, 11 August 2010 (UTC)<br /> <br /> Lab 4. still here--[[User:Z3265772|z3265772]] 00:03, 19 August 2010 (UTC)<br /> <br /> Lab 5. always here--[[User:Z3265772|z3265772]] 23:06, 25 August 2010 (UTC)<br /> <br /> Lab 6. here--[[User:Z3265772|z3265772]] 23:54, 1 September 2010 (UTC)<br /> <br /> Lab 7. here--[[User:Z3265772|z3265772]] 23:08, 15 September 2010 (UTC)<br /> <br /> Lab 8. here--[[User:Z3265772|z3265772]] 23:13, 22 September 2010 (UTC)<br /> <br /> Lab 9. here--[[User:Z3265772|z3265772]] 23:18, 29 September 2010 (UTC)<br /> <br /> Lab 10. here--[[User:Z3265772|z3265772]] 22:05, 6 October 2010 (UTC)<br /> <br /> Lab 11. here--[[User:Z3265772|z3265772]] 22:25, 13 October 2010 (UTC)<br /> <br /> Lab 12. here for every lab :)--[[User:Z3265772|z3265772]] 22:17, 20 October 2010 (UTC)<br /> <br /> ==Lab Questions==<br /> <br /> ===Lab 1 Questions===<br /> <br /> Complete tasks associated with the online individual and group assessments including:<br /> <br /> 1. Demonstrate the ability to create an attendance signature.<br /> <br /> 2. Create a subheading, link and add an image to student page.<br /> <br /> learning to use page<br /> <br /> internal link [[2010_Lecture_2|Cell division]]<br /> <br /> external link [http://www.smh.com.au/ SMH]<br /> <br /> [[Fertilization|lecture 2]]<br /> <br /> picture<br /> <br /> [[File:Early_zygote.jpg|right]]<br /> <br /> ====Search Pubmed====<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed Now:''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> <br /> 3. Vote here (with student signature) for the major topic for the group project before Lab 2.<br /> <br /> ===Lab 2 Questions===<br /> <br /> 1. What factor do the synctiotrophoblast cells secrete to support the ongoing pregnancy?<br /> <br /> Syncytiotrophoblasts secrete Human Chorionic Gonadotropin (hCG) hormone, which prevents degeneration of the corpus luteum <br /> <br /> 2. What does the corpus luteum secrete to prevent continuation of the menstrual cycle?<br /> <br /> Progesterone, which helps make the endometrial lining ready for implantation if an egg is fertilized. Progesterone also changes the endometrium to a secretory lining (from proliferative), which creates an ideal environment for the blastocyst.<br /> <br /> ===Lab 3 Questions===<br /> <br /> <br /> <br /> 1. What Carnegie stages occur during week 3 and week 4?<br /> <br /> Carnegie stages 7 (gastrulation and notochord formation) to 13 (Somite no. 21-29, caudal neuropore closes)<br /> <br /> 2. What is the change in overall embryo size form the beginning of week 3 to the end of week 4?<br /> <br /> embryo has grown 2.6mm to 4.6mm. (week 4. 3mm to 5mm - week 3. 0.4mm)<br /> <br /> 3. Approximately when do the cranial (anterior) and caudal (posterior) neuropores close in the human embryo? <br /> <br /> Cranial neuropore closes at carnegie stage 11, which is 23-26 days<br /> <br /> Caudal neuropore closes at carnegie stage 12-13, which is 26-30 days<br /> <br /> ===Lab 4 Questions===<br /> <br /> 1. Name the vessels that drain into the sinus venosus?<br /> <br /> the three venous inputs that drain into the sinus venosus are the vitelline vein, umbilical vein and common cardinal vein<br /> <br /> 2. What is the fate of the vitelline artery and vitelline vein?<br /> <br /> Vitelline arteries - arises from dorsal aorta, contribute to adult GIT arteries, fuse to become superior mesenteric artery<br /> <br /> Vitelline veins - empties into sinus venosus, contribute to the adult portal system<br /> <br /> 3. Name the 4 layers that constitute the placental barrier?<br /> <br /> syncitiotrophoblast, cytotrophoblast, villi connective tissue and fetal capillary endothelium<br /> <br /> 4. What stem cells are found in abundance, and may be harvested from the placenta for therapeutic uses?<br /> <br /> hematopoietic stem cells<br /> <br /> ===Lab 5 Questions===<br /> <br /> 1. What is the origin of the gastrointestinal tract smooth muscle? <br /> <br /> Splanchnic mesoderm<br /> <br /> 2. At what Carnegie stage does the buccopharyngeal membrane begin to break down? <br /> <br /> Carnegie stage 11<br /> <br /> 3. Identify the lung developmental stage in late embryonic to early fetal period. <br /> <br /> Lung development, budding of lungs from the trachea, starts to occur in Carnegie stage 22<br /> <br /> 4. In premature infant birth, which respiratory cell type may not have fully developed?<br /> <br /> Pnuemocytes type 2 (or alveolar type 2 cells) which produce surfactant.<br /> <br /> ===Lab 7 Questions===<br /> <br /> 1. Briefly; what is a myotube and how is it formed?<br /> <br /> Myoblasts are single cells that differentiate to form myotube. The myotube is multiple nuclei all bound by a single membrane a developing muscle cell or fiber with a centrally-located nucleus. Thus, the myotubes must have been formed from the fusion of numerous myoblasts<br /> <br /> 2. What changes would I expect to see in the muscle fibre types in my legs if I:<br /> <br /> a) Suffered a spinal cord injury: <br /> <br /> Atrophy: Reduction of slow fibres (type I) and conversion to fast twitch fibres (type II)<br /> <br /> b) Took up marathon running: <br /> <br /> Muscles would conversion from fast twitch(type II) to slow twitch fibres(type 1) <br /> <br /> <br /> ----<br /> <br /> ===Peer Review Task===<br /> <br /> '''Group 1:''' The layout is really easy to follow, everything seems to be in the right order and flow really well. i could easily follow what they had written. One thing i found especially impressive, was that they had taken the time to explain every image when you click on it. this would've taken a lot of time and effort that isn't immediately available to see, but helpful if you need to know more about the image, you just click on it. <br /> What could be improved: in one of the tables, under the heading minor signs of trisomies, pleuxs should be plexus. i didnt see any other spelling mistakes though. Also, it seems only one person has contributed most of the work, and there are three in the group. i found this to be the case for most pages.<br /> <br /> <br /> '''Group 3:''' <br /> This project is very well written, and easy to follow. i loved the disorders section, with the table, graph and pictures it made it really easy to follow, and interesting! when you see a picture like the anencephaly one, it makes you stop and read what its about! I also like how many student drawn diagrams there are, they have really put in a lot of effort. I definitely learnt a lot from reading this page.<br /> <br /> What could be improved: The ethics section has no references, also the current research section seems to be copied straight from the internet. there are also a few spelling mistakes in the ethics section - waranted=warranted, phsychological=psychological<br /> <br /> <br /> '''Group 4:'''<br /> Felicias drawings are amazing! they go into so much detail and she has clearly put in so much effort in doing them! That was the first thing i noticed when looking at the page. I actually really like the overall feel of the page, and the bigger pictures help. The first two pictures really caught my attention and made me want to read all about PUBS. I did like all the dot points, because they made it a little easier to follow, but maybe a little simplistic. <br /> <br /> Improvements: Under the sample analysis heading, they have put 'the' twice. just need to delete one. Under the disorders section, they have put that unlike PUBS, CVS and amniocentesis do test for neural tube defects. CVS doesnt test for neural tube defects, only amniocentesis. Alot of the page in not referenced. Other than that, awesome job!<br /> <br /> <br /> '''Group 5:'''<br /> I liked the fact that everything is referenced, it made me feel like they have really researched what they have put on there. The page is very informative, if not a little simplistic, but i learnt alot about fetal fibronectin. i liked the student drawn diagram!<br /> <br /> improvements: definitely extra pictures. If you cant find any that you can use, start emailing the companies, this is how i got most of our permissions, as i couldnt find any with permissions. as a last resort try wiki, all of their pictures arent copyright protected. Also, probably best to go through the criteria for the page, youve missed the history altogether. Here it is for you:<br /> project outline:<br /> <br /> 1. Intro<br /> <br /> 2. historic background<br /> <br /> 3. current associated research<br /> <br /> 4. simplified description of technique<br /> <br /> 5. student drawn figure or animation<br /> <br /> 6. reference list<br /> <br /> 7. glossary<br /> <br /> 8. external links<br /> <br /> <br /> '''Group 6:'''<br /> <br /> I like how the page is organised, its easy to follow and the layout was great. The pictures helped me with understanding the sections, although maybe they could be a bit bigger. I did learn alot about Maternal serum alpha-fetoprotein from this page, Thanks!<br /> <br /> Improvements: Under the heading MSAFP testing and the community, there is a spelling mistake. liklihood should be likelihood, and servey should be survey. The page also looks a bit like an essay, maybe for some parts you could do a few tables to make it easier to follow<br /> <br /> ----<br /> <br /> ===Lab 10 Questions===<br /> <br /> 1. Development of which endocrine organ is affected by low dietary iodine? <br /> <br /> Thyroid<br /> <br /> 2. What are the affects of this deficiency on other non-endocrine system development? <br /> <br /> leads to neurological defects (cretinism) as thyroid is needed for neural development, hypothyroidism, low body weight, poor muscle tone, low body temperature. <br /> <br /> 3. At approximately what week in development do many endocrine organs appear to begin their function?<br /> <br /> At around week 10 most endocrine organs begin secreting hormones<br /> <br /> ===Lab 12 Questions===<br /> <br /> 1. During which trimester does fetal length change the most and when does fetal weight change the most?<br /> <br /> Fetal length changes mostly in the second trimester, and fetal weight changes the most in the third trimester<br /> <br /> 2. What is the name of the theory that links postnatal health with prenatal development?<br /> <br /> Fetal origins hypothesis<br /> <br /> 3. Which hormone initiates and maintains labour during birth and where does it come from?<br /> <br /> Oxytocin from posterior pituitary</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3265772&diff=42420 2010-10-29T01:31:55Z

<p>Z3265772: /* Lab 12 Questions */</p> <hr /> <div>===Group 2===<br /> <br /> [[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> <br /> ==Attendance==<br /> <br /> Jill<br /> <br /> Lab 1. here--[[User:Z3265772|z3265772]] 23:43, 28 July 2010 (UTC)<br /> <br /> Lab 2. here--[[User:Z3265772|z3265772]] 22:57, 4 August 2010 (UTC)<br /> <br /> Lab 3. here--[[User:Z3265772|z3265772]] 23:14, 11 August 2010 (UTC)<br /> <br /> Lab 4. still here--[[User:Z3265772|z3265772]] 00:03, 19 August 2010 (UTC)<br /> <br /> Lab 5. always here--[[User:Z3265772|z3265772]] 23:06, 25 August 2010 (UTC)<br /> <br /> Lab 6. here--[[User:Z3265772|z3265772]] 23:54, 1 September 2010 (UTC)<br /> <br /> Lab 7. here--[[User:Z3265772|z3265772]] 23:08, 15 September 2010 (UTC)<br /> <br /> Lab 8. here--[[User:Z3265772|z3265772]] 23:13, 22 September 2010 (UTC)<br /> <br /> Lab 9. here--[[User:Z3265772|z3265772]] 23:18, 29 September 2010 (UTC)<br /> <br /> Lab 10. here--[[User:Z3265772|z3265772]] 22:05, 6 October 2010 (UTC)<br /> <br /> Lab 11. here--[[User:Z3265772|z3265772]] 22:25, 13 October 2010 (UTC)<br /> <br /> Lab 12. here for every lab :)--[[User:Z3265772|z3265772]] 22:17, 20 October 2010 (UTC)<br /> <br /> ==Lab Questions==<br /> <br /> ===Lab 1 Questions===<br /> <br /> Complete tasks associated with the online individual and group assessments including:<br /> <br /> 1. Demonstrate the ability to create an attendance signature.<br /> <br /> 2. Create a subheading, link and add an image to student page.<br /> <br /> learning to use page<br /> <br /> internal link [[2010_Lecture_2|Cell division]]<br /> <br /> external link [http://www.smh.com.au/ SMH]<br /> <br /> [[Fertilization|lecture 2]]<br /> <br /> picture<br /> <br /> [[File:Early_zygote.jpg|right]]<br /> <br /> ====Search Pubmed====<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed Now:''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> <br /> 3. Vote here (with student signature) for the major topic for the group project before Lab 2.<br /> <br /> ===Lab 2 Questions===<br /> <br /> 1. What factor do the synctiotrophoblast cells secrete to support the ongoing pregnancy?<br /> <br /> Syncytiotrophoblasts secrete Human Chorionic Gonadotropin (hCG) hormone, which prevents degeneration of the corpus luteum <br /> <br /> 2. What does the corpus luteum secrete to prevent continuation of the menstrual cycle?<br /> <br /> Progesterone, which helps make the endometrial lining ready for implantation if an egg is fertilized. Progesterone also changes the endometrium to a secretory lining (from proliferative), which creates an ideal environment for the blastocyst.<br /> <br /> ===Lab 3 Questions===<br /> <br /> <br /> <br /> 1. What Carnegie stages occur during week 3 and week 4?<br /> <br /> Carnegie stages 7 (gastrulation and notochord formation) to 13 (Somite no. 21-29, caudal neuropore closes)<br /> <br /> 2. What is the change in overall embryo size form the beginning of week 3 to the end of week 4?<br /> <br /> embryo has grown 2.6mm to 4.6mm. (week 4. 3mm to 5mm - week 3. 0.4mm)<br /> <br /> 3. Approximately when do the cranial (anterior) and caudal (posterior) neuropores close in the human embryo? <br /> <br /> Cranial neuropore closes at carnegie stage 11, which is 23-26 days<br /> <br /> Caudal neuropore closes at carnegie stage 12-13, which is 26-30 days<br /> <br /> ===Lab 4 Questions===<br /> <br /> 1. Name the vessels that drain into the sinus venosus?<br /> <br /> the three venous inputs that drain into the sinus venosus are the vitelline vein, umbilical vein and common cardinal vein<br /> <br /> 2. What is the fate of the vitelline artery and vitelline vein?<br /> <br /> Vitelline arteries - arises from dorsal aorta, contribute to adult GIT arteries, fuse to become superior mesenteric artery<br /> <br /> Vitelline veins - empties into sinus venosus, contribute to the adult portal system<br /> <br /> 3. Name the 4 layers that constitute the placental barrier?<br /> <br /> syncitiotrophoblast, cytotrophoblast, villi connective tissue and fetal capillary endothelium<br /> <br /> 4. What stem cells are found in abundance, and may be harvested from the placenta for therapeutic uses?<br /> <br /> hematopoietic stem cells<br /> <br /> ===Lab 5 Questions===<br /> <br /> 1. What is the origin of the gastrointestinal tract smooth muscle? <br /> <br /> Splanchnic mesoderm<br /> <br /> 2. At what Carnegie stage does the buccopharyngeal membrane begin to break down? <br /> <br /> Carnegie stage 11<br /> <br /> 3. Identify the lung developmental stage in late embryonic to early fetal period. <br /> <br /> Lung development, budding of lungs from the trachea, starts to occur in Carnegie stage 22<br /> <br /> 4. In premature infant birth, which respiratory cell type may not have fully developed?<br /> <br /> Pnuemocytes type 2 (or alveolar type 2 cells) which produce surfactant.<br /> <br /> ===Lab 7 Questions===<br /> <br /> 1. Briefly; what is a myotube and how is it formed?<br /> <br /> myotubes are multi-nucleated cells which are formed by the the fusion of myoblasts <br /> <br /> 2. What changes would I expect to see in the muscle fibre types in my legs if I:<br /> <br /> a) Suffered a spinal cord injury: <br /> <br /> muscle atrophy in the legs. <br /> <br /> b) Took up marathon running: <br /> <br /> some of the fast muscle fibers in the legs would change to slow fibers.<br /> <br /> <br /> ----<br /> <br /> ===Peer Review Task===<br /> <br /> '''Group 1:''' The layout is really easy to follow, everything seems to be in the right order and flow really well. i could easily follow what they had written. One thing i found especially impressive, was that they had taken the time to explain every image when you click on it. this would've taken a lot of time and effort that isn't immediately available to see, but helpful if you need to know more about the image, you just click on it. <br /> What could be improved: in one of the tables, under the heading minor signs of trisomies, pleuxs should be plexus. i didnt see any other spelling mistakes though. Also, it seems only one person has contributed most of the work, and there are three in the group. i found this to be the case for most pages.<br /> <br /> <br /> '''Group 3:''' <br /> This project is very well written, and easy to follow. i loved the disorders section, with the table, graph and pictures it made it really easy to follow, and interesting! when you see a picture like the anencephaly one, it makes you stop and read what its about! I also like how many student drawn diagrams there are, they have really put in a lot of effort. I definitely learnt a lot from reading this page.<br /> <br /> What could be improved: The ethics section has no references, also the current research section seems to be copied straight from the internet. there are also a few spelling mistakes in the ethics section - waranted=warranted, phsychological=psychological<br /> <br /> <br /> '''Group 4:'''<br /> Felicias drawings are amazing! they go into so much detail and she has clearly put in so much effort in doing them! That was the first thing i noticed when looking at the page. I actually really like the overall feel of the page, and the bigger pictures help. The first two pictures really caught my attention and made me want to read all about PUBS. I did like all the dot points, because they made it a little easier to follow, but maybe a little simplistic. <br /> <br /> Improvements: Under the sample analysis heading, they have put 'the' twice. just need to delete one. Under the disorders section, they have put that unlike PUBS, CVS and amniocentesis do test for neural tube defects. CVS doesnt test for neural tube defects, only amniocentesis. Alot of the page in not referenced. Other than that, awesome job!<br /> <br /> <br /> '''Group 5:'''<br /> I liked the fact that everything is referenced, it made me feel like they have really researched what they have put on there. The page is very informative, if not a little simplistic, but i learnt alot about fetal fibronectin. i liked the student drawn diagram!<br /> <br /> improvements: definitely extra pictures. If you cant find any that you can use, start emailing the companies, this is how i got most of our permissions, as i couldnt find any with permissions. as a last resort try wiki, all of their pictures arent copyright protected. Also, probably best to go through the criteria for the page, youve missed the history altogether. Here it is for you:<br /> project outline:<br /> <br /> 1. Intro<br /> <br /> 2. historic background<br /> <br /> 3. current associated research<br /> <br /> 4. simplified description of technique<br /> <br /> 5. student drawn figure or animation<br /> <br /> 6. reference list<br /> <br /> 7. glossary<br /> <br /> 8. external links<br /> <br /> <br /> '''Group 6:'''<br /> <br /> I like how the page is organised, its easy to follow and the layout was great. The pictures helped me with understanding the sections, although maybe they could be a bit bigger. I did learn alot about Maternal serum alpha-fetoprotein from this page, Thanks!<br /> <br /> Improvements: Under the heading MSAFP testing and the community, there is a spelling mistake. liklihood should be likelihood, and servey should be survey. The page also looks a bit like an essay, maybe for some parts you could do a few tables to make it easier to follow<br /> <br /> ----<br /> <br /> ===Lab 10 Questions===<br /> <br /> 1. Development of which endocrine organ is affected by low dietary iodine? <br /> <br /> Thyroid<br /> <br /> 2. What are the affects of this deficiency on other non-endocrine system development? <br /> <br /> leads to neurological defects (cretinism) as thyroid is needed for neural development, hypothyroidism, low body weight, poor muscle tone, low body temperature. <br /> <br /> 3. At approximately what week in development do many endocrine organs appear to begin their function?<br /> <br /> At around week 10 most endocrine organs begin secreting hormones<br /> <br /> ===Lab 12 Questions===<br /> <br /> 1. During which trimester does fetal length change the most and when does fetal weight change the most?<br /> <br /> Fetal length changes mostly in the second trimester, and fetal weight changes the most in the third trimester<br /> <br /> 2. What is the name of the theory that links postnatal health with prenatal development?<br /> <br /> Fetal origins hypothesis<br /> <br /> 3. Which hormone initiates and maintains labour during birth and where does it come from?<br /> <br /> Oxytocin from posterior pituitary</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3265772&diff=42083 2010-10-26T08:31:36Z

<p>Z3265772: /* Lab 12 Questions */</p> <hr /> <div>===Group 2===<br /> <br /> [[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> <br /> ==Attendance==<br /> <br /> Jill<br /> <br /> Lab 1. here--[[User:Z3265772|z3265772]] 23:43, 28 July 2010 (UTC)<br /> <br /> Lab 2. here--[[User:Z3265772|z3265772]] 22:57, 4 August 2010 (UTC)<br /> <br /> Lab 3. here--[[User:Z3265772|z3265772]] 23:14, 11 August 2010 (UTC)<br /> <br /> Lab 4. still here--[[User:Z3265772|z3265772]] 00:03, 19 August 2010 (UTC)<br /> <br /> Lab 5. always here--[[User:Z3265772|z3265772]] 23:06, 25 August 2010 (UTC)<br /> <br /> Lab 6. here--[[User:Z3265772|z3265772]] 23:54, 1 September 2010 (UTC)<br /> <br /> Lab 7. here--[[User:Z3265772|z3265772]] 23:08, 15 September 2010 (UTC)<br /> <br /> Lab 8. here--[[User:Z3265772|z3265772]] 23:13, 22 September 2010 (UTC)<br /> <br /> Lab 9. here--[[User:Z3265772|z3265772]] 23:18, 29 September 2010 (UTC)<br /> <br /> Lab 10. here--[[User:Z3265772|z3265772]] 22:05, 6 October 2010 (UTC)<br /> <br /> Lab 11. here--[[User:Z3265772|z3265772]] 22:25, 13 October 2010 (UTC)<br /> <br /> Lab 12. here for every lab :)--[[User:Z3265772|z3265772]] 22:17, 20 October 2010 (UTC)<br /> <br /> ==Lab Questions==<br /> <br /> ===Lab 1 Questions===<br /> <br /> Complete tasks associated with the online individual and group assessments including:<br /> <br /> 1. Demonstrate the ability to create an attendance signature.<br /> <br /> 2. Create a subheading, link and add an image to student page.<br /> <br /> learning to use page<br /> <br /> internal link [[2010_Lecture_2|Cell division]]<br /> <br /> external link [http://www.smh.com.au/ SMH]<br /> <br /> [[Fertilization|lecture 2]]<br /> <br /> picture<br /> <br /> [[File:Early_zygote.jpg|right]]<br /> <br /> ====Search Pubmed====<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed Now:''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> <br /> 3. Vote here (with student signature) for the major topic for the group project before Lab 2.<br /> <br /> ===Lab 2 Questions===<br /> <br /> 1. What factor do the synctiotrophoblast cells secrete to support the ongoing pregnancy?<br /> <br /> Syncytiotrophoblasts secrete Human Chorionic Gonadotropin (hCG) hormone, which prevents degeneration of the corpus luteum <br /> <br /> 2. What does the corpus luteum secrete to prevent continuation of the menstrual cycle?<br /> <br /> Progesterone, which helps make the endometrial lining ready for implantation if an egg is fertilized. Progesterone also changes the endometrium to a secretory lining (from proliferative), which creates an ideal environment for the blastocyst.<br /> <br /> ===Lab 3 Questions===<br /> <br /> <br /> <br /> 1. What Carnegie stages occur during week 3 and week 4?<br /> <br /> Carnegie stages 7 (gastrulation and notochord formation) to 13 (Somite no. 21-29, caudal neuropore closes)<br /> <br /> 2. What is the change in overall embryo size form the beginning of week 3 to the end of week 4?<br /> <br /> embryo has grown 2.6mm to 4.6mm. (week 4. 3mm to 5mm - week 3. 0.4mm)<br /> <br /> 3. Approximately when do the cranial (anterior) and caudal (posterior) neuropores close in the human embryo? <br /> <br /> Cranial neuropore closes at carnegie stage 11, which is 23-26 days<br /> <br /> Caudal neuropore closes at carnegie stage 12-13, which is 26-30 days<br /> <br /> ===Lab 4 Questions===<br /> <br /> 1. Name the vessels that drain into the sinus venosus?<br /> <br /> the three venous inputs that drain into the sinus venosus are the vitelline vein, umbilical vein and common cardinal vein<br /> <br /> 2. What is the fate of the vitelline artery and vitelline vein?<br /> <br /> Vitelline arteries - arises from dorsal aorta, contribute to adult GIT arteries, fuse to become superior mesenteric artery<br /> <br /> Vitelline veins - empties into sinus venosus, contribute to the adult portal system<br /> <br /> 3. Name the 4 layers that constitute the placental barrier?<br /> <br /> syncitiotrophoblast, cytotrophoblast, villi connective tissue and fetal capillary endothelium<br /> <br /> 4. What stem cells are found in abundance, and may be harvested from the placenta for therapeutic uses?<br /> <br /> hematopoietic stem cells<br /> <br /> ===Lab 5 Questions===<br /> <br /> 1. What is the origin of the gastrointestinal tract smooth muscle? <br /> <br /> Splanchnic mesoderm<br /> <br /> 2. At what Carnegie stage does the buccopharyngeal membrane begin to break down? <br /> <br /> Carnegie stage 11<br /> <br /> 3. Identify the lung developmental stage in late embryonic to early fetal period. <br /> <br /> Lung development, budding of lungs from the trachea, starts to occur in Carnegie stage 22<br /> <br /> 4. In premature infant birth, which respiratory cell type may not have fully developed?<br /> <br /> Pnuemocytes type 2 (or alveolar type 2 cells) which produce surfactant.<br /> <br /> ===Lab 7 Questions===<br /> <br /> 1. Briefly; what is a myotube and how is it formed?<br /> <br /> myotubes are multi-nucleated cells which are formed by the the fusion of myoblasts <br /> <br /> 2. What changes would I expect to see in the muscle fibre types in my legs if I:<br /> <br /> a) Suffered a spinal cord injury: <br /> <br /> muscle atrophy in the legs. <br /> <br /> b) Took up marathon running: <br /> <br /> some of the fast muscle fibers in the legs would change to slow fibers.<br /> <br /> <br /> ----<br /> <br /> ===Peer Review Task===<br /> <br /> '''Group 1:''' The layout is really easy to follow, everything seems to be in the right order and flow really well. i could easily follow what they had written. One thing i found especially impressive, was that they had taken the time to explain every image when you click on it. this would've taken a lot of time and effort that isn't immediately available to see, but helpful if you need to know more about the image, you just click on it. <br /> What could be improved: in one of the tables, under the heading minor signs of trisomies, pleuxs should be plexus. i didnt see any other spelling mistakes though. Also, it seems only one person has contributed most of the work, and there are three in the group. i found this to be the case for most pages.<br /> <br /> <br /> '''Group 3:''' <br /> This project is very well written, and easy to follow. i loved the disorders section, with the table, graph and pictures it made it really easy to follow, and interesting! when you see a picture like the anencephaly one, it makes you stop and read what its about! I also like how many student drawn diagrams there are, they have really put in a lot of effort. I definitely learnt a lot from reading this page.<br /> <br /> What could be improved: The ethics section has no references, also the current research section seems to be copied straight from the internet. there are also a few spelling mistakes in the ethics section - waranted=warranted, phsychological=psychological<br /> <br /> <br /> '''Group 4:'''<br /> Felicias drawings are amazing! they go into so much detail and she has clearly put in so much effort in doing them! That was the first thing i noticed when looking at the page. I actually really like the overall feel of the page, and the bigger pictures help. The first two pictures really caught my attention and made me want to read all about PUBS. I did like all the dot points, because they made it a little easier to follow, but maybe a little simplistic. <br /> <br /> Improvements: Under the sample analysis heading, they have put 'the' twice. just need to delete one. Under the disorders section, they have put that unlike PUBS, CVS and amniocentesis do test for neural tube defects. CVS doesnt test for neural tube defects, only amniocentesis. Alot of the page in not referenced. Other than that, awesome job!<br /> <br /> <br /> '''Group 5:'''<br /> I liked the fact that everything is referenced, it made me feel like they have really researched what they have put on there. The page is very informative, if not a little simplistic, but i learnt alot about fetal fibronectin. i liked the student drawn diagram!<br /> <br /> improvements: definitely extra pictures. If you cant find any that you can use, start emailing the companies, this is how i got most of our permissions, as i couldnt find any with permissions. as a last resort try wiki, all of their pictures arent copyright protected. Also, probably best to go through the criteria for the page, youve missed the history altogether. Here it is for you:<br /> project outline:<br /> <br /> 1. Intro<br /> <br /> 2. historic background<br /> <br /> 3. current associated research<br /> <br /> 4. simplified description of technique<br /> <br /> 5. student drawn figure or animation<br /> <br /> 6. reference list<br /> <br /> 7. glossary<br /> <br /> 8. external links<br /> <br /> <br /> '''Group 6:'''<br /> <br /> I like how the page is organised, its easy to follow and the layout was great. The pictures helped me with understanding the sections, although maybe they could be a bit bigger. I did learn alot about Maternal serum alpha-fetoprotein from this page, Thanks!<br /> <br /> Improvements: Under the heading MSAFP testing and the community, there is a spelling mistake. liklihood should be likelihood, and servey should be survey. The page also looks a bit like an essay, maybe for some parts you could do a few tables to make it easier to follow<br /> <br /> ----<br /> <br /> ===Lab 10 Questions===<br /> <br /> 1. Development of which endocrine organ is affected by low dietary iodine? <br /> <br /> Thyroid<br /> <br /> 2. What are the affects of this deficiency on other non-endocrine system development? <br /> <br /> leads to neurological defects (cretinism) as thyroid is needed for neural development, hypothyroidism, low body weight, poor muscle tone, low body temperature. <br /> <br /> 3. At approximately what week in development do many endocrine organs appear to begin their function?<br /> <br /> At around week 10 most endocrine organs begin secreting hormones<br /> <br /> ===Lab 12 Questions===<br /> <br /> 1. During which trimester does fetal length change the most and when does fetal weight change the most?<br /> <br /> Fetal length changes in a linear pattern for all three trimesters, and fetal weight changes the most in the last trimester<br /> <br /> 2. What is the name of the theory that links postnatal health with prenatal development?<br /> <br /> Fetal origins hypothesis<br /> <br /> 3. Which hormone initiates and maintains labour during birth and where does it come from?<br /> <br /> Oxytocin from posterior pituitary</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3265772&diff=42082 2010-10-26T08:27:11Z

<p>Z3265772: </p> <hr /> <div>===Group 2===<br /> <br /> [[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> <br /> ==Attendance==<br /> <br /> Jill<br /> <br /> Lab 1. here--[[User:Z3265772|z3265772]] 23:43, 28 July 2010 (UTC)<br /> <br /> Lab 2. here--[[User:Z3265772|z3265772]] 22:57, 4 August 2010 (UTC)<br /> <br /> Lab 3. here--[[User:Z3265772|z3265772]] 23:14, 11 August 2010 (UTC)<br /> <br /> Lab 4. still here--[[User:Z3265772|z3265772]] 00:03, 19 August 2010 (UTC)<br /> <br /> Lab 5. always here--[[User:Z3265772|z3265772]] 23:06, 25 August 2010 (UTC)<br /> <br /> Lab 6. here--[[User:Z3265772|z3265772]] 23:54, 1 September 2010 (UTC)<br /> <br /> Lab 7. here--[[User:Z3265772|z3265772]] 23:08, 15 September 2010 (UTC)<br /> <br /> Lab 8. here--[[User:Z3265772|z3265772]] 23:13, 22 September 2010 (UTC)<br /> <br /> Lab 9. here--[[User:Z3265772|z3265772]] 23:18, 29 September 2010 (UTC)<br /> <br /> Lab 10. here--[[User:Z3265772|z3265772]] 22:05, 6 October 2010 (UTC)<br /> <br /> Lab 11. here--[[User:Z3265772|z3265772]] 22:25, 13 October 2010 (UTC)<br /> <br /> Lab 12. here for every lab :)--[[User:Z3265772|z3265772]] 22:17, 20 October 2010 (UTC)<br /> <br /> ==Lab Questions==<br /> <br /> ===Lab 1 Questions===<br /> <br /> Complete tasks associated with the online individual and group assessments including:<br /> <br /> 1. Demonstrate the ability to create an attendance signature.<br /> <br /> 2. Create a subheading, link and add an image to student page.<br /> <br /> learning to use page<br /> <br /> internal link [[2010_Lecture_2|Cell division]]<br /> <br /> external link [http://www.smh.com.au/ SMH]<br /> <br /> [[Fertilization|lecture 2]]<br /> <br /> picture<br /> <br /> [[File:Early_zygote.jpg|right]]<br /> <br /> ====Search Pubmed====<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed Now:''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> <br /> 3. Vote here (with student signature) for the major topic for the group project before Lab 2.<br /> <br /> ===Lab 2 Questions===<br /> <br /> 1. What factor do the synctiotrophoblast cells secrete to support the ongoing pregnancy?<br /> <br /> Syncytiotrophoblasts secrete Human Chorionic Gonadotropin (hCG) hormone, which prevents degeneration of the corpus luteum <br /> <br /> 2. What does the corpus luteum secrete to prevent continuation of the menstrual cycle?<br /> <br /> Progesterone, which helps make the endometrial lining ready for implantation if an egg is fertilized. Progesterone also changes the endometrium to a secretory lining (from proliferative), which creates an ideal environment for the blastocyst.<br /> <br /> ===Lab 3 Questions===<br /> <br /> <br /> <br /> 1. What Carnegie stages occur during week 3 and week 4?<br /> <br /> Carnegie stages 7 (gastrulation and notochord formation) to 13 (Somite no. 21-29, caudal neuropore closes)<br /> <br /> 2. What is the change in overall embryo size form the beginning of week 3 to the end of week 4?<br /> <br /> embryo has grown 2.6mm to 4.6mm. (week 4. 3mm to 5mm - week 3. 0.4mm)<br /> <br /> 3. Approximately when do the cranial (anterior) and caudal (posterior) neuropores close in the human embryo? <br /> <br /> Cranial neuropore closes at carnegie stage 11, which is 23-26 days<br /> <br /> Caudal neuropore closes at carnegie stage 12-13, which is 26-30 days<br /> <br /> ===Lab 4 Questions===<br /> <br /> 1. Name the vessels that drain into the sinus venosus?<br /> <br /> the three venous inputs that drain into the sinus venosus are the vitelline vein, umbilical vein and common cardinal vein<br /> <br /> 2. What is the fate of the vitelline artery and vitelline vein?<br /> <br /> Vitelline arteries - arises from dorsal aorta, contribute to adult GIT arteries, fuse to become superior mesenteric artery<br /> <br /> Vitelline veins - empties into sinus venosus, contribute to the adult portal system<br /> <br /> 3. Name the 4 layers that constitute the placental barrier?<br /> <br /> syncitiotrophoblast, cytotrophoblast, villi connective tissue and fetal capillary endothelium<br /> <br /> 4. What stem cells are found in abundance, and may be harvested from the placenta for therapeutic uses?<br /> <br /> hematopoietic stem cells<br /> <br /> ===Lab 5 Questions===<br /> <br /> 1. What is the origin of the gastrointestinal tract smooth muscle? <br /> <br /> Splanchnic mesoderm<br /> <br /> 2. At what Carnegie stage does the buccopharyngeal membrane begin to break down? <br /> <br /> Carnegie stage 11<br /> <br /> 3. Identify the lung developmental stage in late embryonic to early fetal period. <br /> <br /> Lung development, budding of lungs from the trachea, starts to occur in Carnegie stage 22<br /> <br /> 4. In premature infant birth, which respiratory cell type may not have fully developed?<br /> <br /> Pnuemocytes type 2 (or alveolar type 2 cells) which produce surfactant.<br /> <br /> ===Lab 7 Questions===<br /> <br /> 1. Briefly; what is a myotube and how is it formed?<br /> <br /> myotubes are multi-nucleated cells which are formed by the the fusion of myoblasts <br /> <br /> 2. What changes would I expect to see in the muscle fibre types in my legs if I:<br /> <br /> a) Suffered a spinal cord injury: <br /> <br /> muscle atrophy in the legs. <br /> <br /> b) Took up marathon running: <br /> <br /> some of the fast muscle fibers in the legs would change to slow fibers.<br /> <br /> <br /> ----<br /> <br /> ===Peer Review Task===<br /> <br /> '''Group 1:''' The layout is really easy to follow, everything seems to be in the right order and flow really well. i could easily follow what they had written. One thing i found especially impressive, was that they had taken the time to explain every image when you click on it. this would've taken a lot of time and effort that isn't immediately available to see, but helpful if you need to know more about the image, you just click on it. <br /> What could be improved: in one of the tables, under the heading minor signs of trisomies, pleuxs should be plexus. i didnt see any other spelling mistakes though. Also, it seems only one person has contributed most of the work, and there are three in the group. i found this to be the case for most pages.<br /> <br /> <br /> '''Group 3:''' <br /> This project is very well written, and easy to follow. i loved the disorders section, with the table, graph and pictures it made it really easy to follow, and interesting! when you see a picture like the anencephaly one, it makes you stop and read what its about! I also like how many student drawn diagrams there are, they have really put in a lot of effort. I definitely learnt a lot from reading this page.<br /> <br /> What could be improved: The ethics section has no references, also the current research section seems to be copied straight from the internet. there are also a few spelling mistakes in the ethics section - waranted=warranted, phsychological=psychological<br /> <br /> <br /> '''Group 4:'''<br /> Felicias drawings are amazing! they go into so much detail and she has clearly put in so much effort in doing them! That was the first thing i noticed when looking at the page. I actually really like the overall feel of the page, and the bigger pictures help. The first two pictures really caught my attention and made me want to read all about PUBS. I did like all the dot points, because they made it a little easier to follow, but maybe a little simplistic. <br /> <br /> Improvements: Under the sample analysis heading, they have put 'the' twice. just need to delete one. Under the disorders section, they have put that unlike PUBS, CVS and amniocentesis do test for neural tube defects. CVS doesnt test for neural tube defects, only amniocentesis. Alot of the page in not referenced. Other than that, awesome job!<br /> <br /> <br /> '''Group 5:'''<br /> I liked the fact that everything is referenced, it made me feel like they have really researched what they have put on there. The page is very informative, if not a little simplistic, but i learnt alot about fetal fibronectin. i liked the student drawn diagram!<br /> <br /> improvements: definitely extra pictures. If you cant find any that you can use, start emailing the companies, this is how i got most of our permissions, as i couldnt find any with permissions. as a last resort try wiki, all of their pictures arent copyright protected. Also, probably best to go through the criteria for the page, youve missed the history altogether. Here it is for you:<br /> project outline:<br /> <br /> 1. Intro<br /> <br /> 2. historic background<br /> <br /> 3. current associated research<br /> <br /> 4. simplified description of technique<br /> <br /> 5. student drawn figure or animation<br /> <br /> 6. reference list<br /> <br /> 7. glossary<br /> <br /> 8. external links<br /> <br /> <br /> '''Group 6:'''<br /> <br /> I like how the page is organised, its easy to follow and the layout was great. The pictures helped me with understanding the sections, although maybe they could be a bit bigger. I did learn alot about Maternal serum alpha-fetoprotein from this page, Thanks!<br /> <br /> Improvements: Under the heading MSAFP testing and the community, there is a spelling mistake. liklihood should be likelihood, and servey should be survey. The page also looks a bit like an essay, maybe for some parts you could do a few tables to make it easier to follow<br /> <br /> ----<br /> <br /> ===Lab 10 Questions===<br /> <br /> 1. Development of which endocrine organ is affected by low dietary iodine? <br /> <br /> Thyroid<br /> <br /> 2. What are the affects of this deficiency on other non-endocrine system development? <br /> <br /> leads to neurological defects (cretinism) as thyroid is needed for neural development, hypothyroidism, low body weight, poor muscle tone, low body temperature. <br /> <br /> 3. At approximately what week in development do many endocrine organs appear to begin their function?<br /> <br /> At around week 10 most endocrine organs begin secreting hormones<br /> <br /> ===Lab 12 Questions===<br /> <br /> 1. During which trimester does fetal length change the most and when does fetal weight change the most?<br /> <br /> Fetal length changes in a linear pattern for all three trimesters, and fetal weight changes the most in the last trimester<br /> <br /> 2. What is the name of the theory that links postnatal health with prenatal development?<br /> <br /> 3. Which hormone initiates and maintains labour during birth and where does it come from?</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3265772&diff=41524 2010-10-20T22:25:04Z

<p>Z3265772: /* Attendance */</p> <hr /> <div>===Group 2===<br /> <br /> [[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> <br /> ==Attendance==<br /> <br /> Jill<br /> <br /> Lab 1. here--[[User:Z3265772|z3265772]] 23:43, 28 July 2010 (UTC)<br /> <br /> Lab 2. here--[[User:Z3265772|z3265772]] 22:57, 4 August 2010 (UTC)<br /> <br /> Lab 3. here--[[User:Z3265772|z3265772]] 23:14, 11 August 2010 (UTC)<br /> <br /> Lab 4. still here--[[User:Z3265772|z3265772]] 00:03, 19 August 2010 (UTC)<br /> <br /> Lab 5. always here--[[User:Z3265772|z3265772]] 23:06, 25 August 2010 (UTC)<br /> <br /> Lab 6. here--[[User:Z3265772|z3265772]] 23:54, 1 September 2010 (UTC)<br /> <br /> Lab 7. here--[[User:Z3265772|z3265772]] 23:08, 15 September 2010 (UTC)<br /> <br /> Lab 8. here--[[User:Z3265772|z3265772]] 23:13, 22 September 2010 (UTC)<br /> <br /> Lab 9. here--[[User:Z3265772|z3265772]] 23:18, 29 September 2010 (UTC)<br /> <br /> Lab 10. here--[[User:Z3265772|z3265772]] 22:05, 6 October 2010 (UTC)<br /> <br /> Lab 11. here--[[User:Z3265772|z3265772]] 22:25, 13 October 2010 (UTC)<br /> <br /> Lab 12. here for every lab :)--[[User:Z3265772|z3265772]] 22:17, 20 October 2010 (UTC)<br /> <br /> ==Lab Questions==<br /> <br /> ===Lab 1 Questions===<br /> <br /> Complete tasks associated with the online individual and group assessments including:<br /> <br /> 1. Demonstrate the ability to create an attendance signature.<br /> <br /> 2. Create a subheading, link and add an image to student page.<br /> <br /> learning to use page<br /> <br /> internal link [[2010_Lecture_2|Cell division]]<br /> <br /> external link [http://www.smh.com.au/ SMH]<br /> <br /> [[Fertilization|lecture 2]]<br /> <br /> picture<br /> <br /> [[File:Early_zygote.jpg|right]]<br /> <br /> ====Search Pubmed====<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed Now:''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> <br /> 3. Vote here (with student signature) for the major topic for the group project before Lab 2.<br /> <br /> ===Lab 2 Questions===<br /> <br /> 1. What factor do the synctiotrophoblast cells secrete to support the ongoing pregnancy?<br /> <br /> Syncytiotrophoblasts secrete Human Chorionic Gonadotropin (hCG) hormone, which prevents degeneration of the corpus luteum <br /> <br /> 2. What does the corpus luteum secrete to prevent continuation of the menstrual cycle?<br /> <br /> Progesterone, which helps make the endometrial lining ready for implantation if an egg is fertilized. Progesterone also changes the endometrium to a secretory lining (from proliferative), which creates an ideal environment for the blastocyst.<br /> <br /> ===Lab 3 Questions===<br /> <br /> <br /> <br /> 1. What Carnegie stages occur during week 3 and week 4?<br /> <br /> Carnegie stages 7 (gastrulation and notochord formation) to 13 (Somite no. 21-29, caudal neuropore closes)<br /> <br /> 2. What is the change in overall embryo size form the beginning of week 3 to the end of week 4?<br /> <br /> embryo has grown 2.6mm to 4.6mm. (week 4. 3mm to 5mm - week 3. 0.4mm)<br /> <br /> 3. Approximately when do the cranial (anterior) and caudal (posterior) neuropores close in the human embryo? <br /> <br /> Cranial neuropore closes at carnegie stage 11, which is 23-26 days<br /> <br /> Caudal neuropore closes at carnegie stage 12-13, which is 26-30 days<br /> <br /> ===Lab 4 Questions===<br /> <br /> 1. Name the vessels that drain into the sinus venosus?<br /> <br /> the three venous inputs that drain into the sinus venosus are the vitelline vein, umbilical vein and common cardinal vein<br /> <br /> 2. What is the fate of the vitelline artery and vitelline vein?<br /> <br /> Vitelline arteries - arises from dorsal aorta, contribute to adult GIT arteries, fuse to become superior mesenteric artery<br /> <br /> Vitelline veins - empties into sinus venosus, contribute to the adult portal system<br /> <br /> 3. Name the 4 layers that constitute the placental barrier?<br /> <br /> syncitiotrophoblast, cytotrophoblast, villi connective tissue and fetal capillary endothelium<br /> <br /> 4. What stem cells are found in abundance, and may be harvested from the placenta for therapeutic uses?<br /> <br /> hematopoietic stem cells<br /> <br /> ===Lab 5 Questions===<br /> <br /> 1. What is the origin of the gastrointestinal tract smooth muscle? <br /> <br /> Splanchnic mesoderm<br /> <br /> 2. At what Carnegie stage does the buccopharyngeal membrane begin to break down? <br /> <br /> Carnegie stage 11<br /> <br /> 3. Identify the lung developmental stage in late embryonic to early fetal period. <br /> <br /> Lung development, budding of lungs from the trachea, starts to occur in Carnegie stage 22<br /> <br /> 4. In premature infant birth, which respiratory cell type may not have fully developed?<br /> <br /> Pnuemocytes type 2 (or alveolar type 2 cells) which produce surfactant.<br /> <br /> ===Lab 7 Questions===<br /> <br /> 1. Briefly; what is a myotube and how is it formed?<br /> <br /> myotubes are multi-nucleated cells which are formed by the the fusion of myoblasts <br /> <br /> 2. What changes would I expect to see in the muscle fibre types in my legs if I:<br /> <br /> a) Suffered a spinal cord injury: <br /> <br /> muscle atrophy in the legs. <br /> <br /> b) Took up marathon running: <br /> <br /> some of the fast muscle fibers in the legs would change to slow fibers.<br /> <br /> <br /> ----<br /> <br /> ===Peer Review Task===<br /> <br /> '''Group 1:''' The layout is really easy to follow, everything seems to be in the right order and flow really well. i could easily follow what they had written. One thing i found especially impressive, was that they had taken the time to explain every image when you click on it. this would've taken a lot of time and effort that isn't immediately available to see, but helpful if you need to know more about the image, you just click on it. <br /> What could be improved: in one of the tables, under the heading minor signs of trisomies, pleuxs should be plexus. i didnt see any other spelling mistakes though. Also, it seems only one person has contributed most of the work, and there are three in the group. i found this to be the case for most pages.<br /> <br /> <br /> '''Group 3:''' <br /> This project is very well written, and easy to follow. i loved the disorders section, with the table, graph and pictures it made it really easy to follow, and interesting! when you see a picture like the anencephaly one, it makes you stop and read what its about! I also like how many student drawn diagrams there are, they have really put in a lot of effort. I definitely learnt a lot from reading this page.<br /> <br /> What could be improved: The ethics section has no references, also the current research section seems to be copied straight from the internet. there are also a few spelling mistakes in the ethics section - waranted=warranted, phsychological=psychological<br /> <br /> <br /> '''Group 4:'''<br /> Felicias drawings are amazing! they go into so much detail and she has clearly put in so much effort in doing them! That was the first thing i noticed when looking at the page. I actually really like the overall feel of the page, and the bigger pictures help. The first two pictures really caught my attention and made me want to read all about PUBS. I did like all the dot points, because they made it a little easier to follow, but maybe a little simplistic. <br /> <br /> Improvements: Under the sample analysis heading, they have put 'the' twice. just need to delete one. Under the disorders section, they have put that unlike PUBS, CVS and amniocentesis do test for neural tube defects. CVS doesnt test for neural tube defects, only amniocentesis. Alot of the page in not referenced. Other than that, awesome job!<br /> <br /> <br /> '''Group 5:'''<br /> I liked the fact that everything is referenced, it made me feel like they have really researched what they have put on there. The page is very informative, if not a little simplistic, but i learnt alot about fetal fibronectin. i liked the student drawn diagram!<br /> <br /> improvements: definitely extra pictures. If you cant find any that you can use, start emailing the companies, this is how i got most of our permissions, as i couldnt find any with permissions. as a last resort try wiki, all of their pictures arent copyright protected. Also, probably best to go through the criteria for the page, youve missed the history altogether. Here it is for you:<br /> project outline:<br /> <br /> 1. Intro<br /> <br /> 2. historic background<br /> <br /> 3. current associated research<br /> <br /> 4. simplified description of technique<br /> <br /> 5. student drawn figure or animation<br /> <br /> 6. reference list<br /> <br /> 7. glossary<br /> <br /> 8. external links<br /> <br /> <br /> '''Group 6:'''<br /> <br /> I like how the page is organised, its easy to follow and the layout was great. The pictures helped me with understanding the sections, although maybe they could be a bit bigger. I did learn alot about Maternal serum alpha-fetoprotein from this page, Thanks!<br /> <br /> Improvements: Under the heading MSAFP testing and the community, there is a spelling mistake. liklihood should be likelihood, and servey should be survey. The page also looks a bit like an essay, maybe for some parts you could do a few tables to make it easier to follow<br /> <br /> ----<br /> <br /> ===Lab 10 Questions===<br /> <br /> 1. Development of which endocrine organ is affected by low dietary iodine? <br /> <br /> Thyroid<br /> <br /> 2. What are the affects of this deficiency on other non-endocrine system development? <br /> <br /> leads to neurological defects (cretinism) as thyroid is needed for neural development, hypothyroidism, low body weight, poor muscle tone, low body temperature. <br /> <br /> 3. At approximately what week in development do many endocrine organs appear to begin their function?<br /> <br /> At around week 10 most endocrine organs begin secreting hormones</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3265772&diff=41523 2010-10-20T22:23:59Z

<p>Z3265772: /* Attendance */</p> <hr /> <div>===Group 2===<br /> <br /> [[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> <br /> ==Attendance==<br /> <br /> Jill<br /> <br /> Lab 1. here--[[User:Z3265772|z3265772]] 23:43, 28 July 2010 (UTC)<br /> <br /> Lab 2. here--[[User:Z3265772|z3265772]] 22:57, 4 August 2010 (UTC)<br /> <br /> Lab 3. here--[[User:Z3265772|z3265772]] 23:14, 11 August 2010 (UTC)<br /> <br /> Lab 4. still here--[[User:Z3265772|z3265772]] 00:03, 19 August 2010 (UTC)<br /> <br /> Lab 5. always here--[[User:Z3265772|z3265772]] 23:06, 25 August 2010 (UTC)<br /> <br /> Lab 6. here--[[User:Z3265772|z3265772]] 23:54, 1 September 2010 (UTC)<br /> <br /> Lab 7. here--[[User:Z3265772|z3265772]] 23:08, 15 September 2010 (UTC)<br /> <br /> Lab 8. here--[[User:Z3265772|z3265772]] 23:13, 22 September 2010 (UTC)<br /> <br /> Lab 9. here--[[User:Z3265772|z3265772]] 23:18, 29 September 2010 (UTC)<br /> <br /> Lab 10. here--[[User:Z3265772|z3265772]] 22:05, 6 October 2010 (UTC)<br /> <br /> Lab 12. here--[[User:Z3265772|z3265772]] 22:25, 13 October 2010 (UTC)<br /> <br /> Lab 13. here for every lab :)--[[User:Z3265772|z3265772]] 22:17, 20 October 2010 (UTC)<br /> <br /> ==Lab Questions==<br /> <br /> ===Lab 1 Questions===<br /> <br /> Complete tasks associated with the online individual and group assessments including:<br /> <br /> 1. Demonstrate the ability to create an attendance signature.<br /> <br /> 2. Create a subheading, link and add an image to student page.<br /> <br /> learning to use page<br /> <br /> internal link [[2010_Lecture_2|Cell division]]<br /> <br /> external link [http://www.smh.com.au/ SMH]<br /> <br /> [[Fertilization|lecture 2]]<br /> <br /> picture<br /> <br /> [[File:Early_zygote.jpg|right]]<br /> <br /> ====Search Pubmed====<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed Now:''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> <br /> 3. Vote here (with student signature) for the major topic for the group project before Lab 2.<br /> <br /> ===Lab 2 Questions===<br /> <br /> 1. What factor do the synctiotrophoblast cells secrete to support the ongoing pregnancy?<br /> <br /> Syncytiotrophoblasts secrete Human Chorionic Gonadotropin (hCG) hormone, which prevents degeneration of the corpus luteum <br /> <br /> 2. What does the corpus luteum secrete to prevent continuation of the menstrual cycle?<br /> <br /> Progesterone, which helps make the endometrial lining ready for implantation if an egg is fertilized. Progesterone also changes the endometrium to a secretory lining (from proliferative), which creates an ideal environment for the blastocyst.<br /> <br /> ===Lab 3 Questions===<br /> <br /> <br /> <br /> 1. What Carnegie stages occur during week 3 and week 4?<br /> <br /> Carnegie stages 7 (gastrulation and notochord formation) to 13 (Somite no. 21-29, caudal neuropore closes)<br /> <br /> 2. What is the change in overall embryo size form the beginning of week 3 to the end of week 4?<br /> <br /> embryo has grown 2.6mm to 4.6mm. (week 4. 3mm to 5mm - week 3. 0.4mm)<br /> <br /> 3. Approximately when do the cranial (anterior) and caudal (posterior) neuropores close in the human embryo? <br /> <br /> Cranial neuropore closes at carnegie stage 11, which is 23-26 days<br /> <br /> Caudal neuropore closes at carnegie stage 12-13, which is 26-30 days<br /> <br /> ===Lab 4 Questions===<br /> <br /> 1. Name the vessels that drain into the sinus venosus?<br /> <br /> the three venous inputs that drain into the sinus venosus are the vitelline vein, umbilical vein and common cardinal vein<br /> <br /> 2. What is the fate of the vitelline artery and vitelline vein?<br /> <br /> Vitelline arteries - arises from dorsal aorta, contribute to adult GIT arteries, fuse to become superior mesenteric artery<br /> <br /> Vitelline veins - empties into sinus venosus, contribute to the adult portal system<br /> <br /> 3. Name the 4 layers that constitute the placental barrier?<br /> <br /> syncitiotrophoblast, cytotrophoblast, villi connective tissue and fetal capillary endothelium<br /> <br /> 4. What stem cells are found in abundance, and may be harvested from the placenta for therapeutic uses?<br /> <br /> hematopoietic stem cells<br /> <br /> ===Lab 5 Questions===<br /> <br /> 1. What is the origin of the gastrointestinal tract smooth muscle? <br /> <br /> Splanchnic mesoderm<br /> <br /> 2. At what Carnegie stage does the buccopharyngeal membrane begin to break down? <br /> <br /> Carnegie stage 11<br /> <br /> 3. Identify the lung developmental stage in late embryonic to early fetal period. <br /> <br /> Lung development, budding of lungs from the trachea, starts to occur in Carnegie stage 22<br /> <br /> 4. In premature infant birth, which respiratory cell type may not have fully developed?<br /> <br /> Pnuemocytes type 2 (or alveolar type 2 cells) which produce surfactant.<br /> <br /> ===Lab 7 Questions===<br /> <br /> 1. Briefly; what is a myotube and how is it formed?<br /> <br /> myotubes are multi-nucleated cells which are formed by the the fusion of myoblasts <br /> <br /> 2. What changes would I expect to see in the muscle fibre types in my legs if I:<br /> <br /> a) Suffered a spinal cord injury: <br /> <br /> muscle atrophy in the legs. <br /> <br /> b) Took up marathon running: <br /> <br /> some of the fast muscle fibers in the legs would change to slow fibers.<br /> <br /> <br /> ----<br /> <br /> ===Peer Review Task===<br /> <br /> '''Group 1:''' The layout is really easy to follow, everything seems to be in the right order and flow really well. i could easily follow what they had written. One thing i found especially impressive, was that they had taken the time to explain every image when you click on it. this would've taken a lot of time and effort that isn't immediately available to see, but helpful if you need to know more about the image, you just click on it. <br /> What could be improved: in one of the tables, under the heading minor signs of trisomies, pleuxs should be plexus. i didnt see any other spelling mistakes though. Also, it seems only one person has contributed most of the work, and there are three in the group. i found this to be the case for most pages.<br /> <br /> <br /> '''Group 3:''' <br /> This project is very well written, and easy to follow. i loved the disorders section, with the table, graph and pictures it made it really easy to follow, and interesting! when you see a picture like the anencephaly one, it makes you stop and read what its about! I also like how many student drawn diagrams there are, they have really put in a lot of effort. I definitely learnt a lot from reading this page.<br /> <br /> What could be improved: The ethics section has no references, also the current research section seems to be copied straight from the internet. there are also a few spelling mistakes in the ethics section - waranted=warranted, phsychological=psychological<br /> <br /> <br /> '''Group 4:'''<br /> Felicias drawings are amazing! they go into so much detail and she has clearly put in so much effort in doing them! That was the first thing i noticed when looking at the page. I actually really like the overall feel of the page, and the bigger pictures help. The first two pictures really caught my attention and made me want to read all about PUBS. I did like all the dot points, because they made it a little easier to follow, but maybe a little simplistic. <br /> <br /> Improvements: Under the sample analysis heading, they have put 'the' twice. just need to delete one. Under the disorders section, they have put that unlike PUBS, CVS and amniocentesis do test for neural tube defects. CVS doesnt test for neural tube defects, only amniocentesis. Alot of the page in not referenced. Other than that, awesome job!<br /> <br /> <br /> '''Group 5:'''<br /> I liked the fact that everything is referenced, it made me feel like they have really researched what they have put on there. The page is very informative, if not a little simplistic, but i learnt alot about fetal fibronectin. i liked the student drawn diagram!<br /> <br /> improvements: definitely extra pictures. If you cant find any that you can use, start emailing the companies, this is how i got most of our permissions, as i couldnt find any with permissions. as a last resort try wiki, all of their pictures arent copyright protected. Also, probably best to go through the criteria for the page, youve missed the history altogether. Here it is for you:<br /> project outline:<br /> <br /> 1. Intro<br /> <br /> 2. historic background<br /> <br /> 3. current associated research<br /> <br /> 4. simplified description of technique<br /> <br /> 5. student drawn figure or animation<br /> <br /> 6. reference list<br /> <br /> 7. glossary<br /> <br /> 8. external links<br /> <br /> <br /> '''Group 6:'''<br /> <br /> I like how the page is organised, its easy to follow and the layout was great. The pictures helped me with understanding the sections, although maybe they could be a bit bigger. I did learn alot about Maternal serum alpha-fetoprotein from this page, Thanks!<br /> <br /> Improvements: Under the heading MSAFP testing and the community, there is a spelling mistake. liklihood should be likelihood, and servey should be survey. The page also looks a bit like an essay, maybe for some parts you could do a few tables to make it easier to follow<br /> <br /> ----<br /> <br /> ===Lab 10 Questions===<br /> <br /> 1. Development of which endocrine organ is affected by low dietary iodine? <br /> <br /> Thyroid<br /> <br /> 2. What are the affects of this deficiency on other non-endocrine system development? <br /> <br /> leads to neurological defects (cretinism) as thyroid is needed for neural development, hypothyroidism, low body weight, poor muscle tone, low body temperature. <br /> <br /> 3. At approximately what week in development do many endocrine organs appear to begin their function?<br /> <br /> At around week 10 most endocrine organs begin secreting hormones</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3265772&diff=41520 2010-10-20T22:17:55Z

<p>Z3265772: /* Attendance */</p> <hr /> <div>===Group 2===<br /> <br /> [[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> <br /> ==Attendance==<br /> <br /> Jill<br /> <br /> here--[[User:Z3265772|z3265772]] 23:43, 28 July 2010 (UTC)<br /> <br /> here--[[User:Z3265772|z3265772]] 22:57, 4 August 2010 (UTC)<br /> <br /> here--[[User:Z3265772|z3265772]] 23:14, 11 August 2010 (UTC)<br /> <br /> still here--[[User:Z3265772|z3265772]] 00:03, 19 August 2010 (UTC)<br /> <br /> always here--[[User:Z3265772|z3265772]] 23:06, 25 August 2010 (UTC)<br /> <br /> here--[[User:Z3265772|z3265772]] 23:54, 1 September 2010 (UTC)<br /> <br /> here--[[User:Z3265772|z3265772]] 23:08, 15 September 2010 (UTC)<br /> <br /> here--[[User:Z3265772|z3265772]] 23:13, 22 September 2010 (UTC)<br /> <br /> here--[[User:Z3265772|z3265772]] 23:18, 29 September 2010 (UTC)<br /> <br /> here--[[User:Z3265772|z3265772]] 22:05, 6 October 2010 (UTC)<br /> <br /> here--[[User:Z3265772|z3265772]] 22:25, 13 October 2010 (UTC)<br /> <br /> here for every lab :)--[[User:Z3265772|z3265772]] 22:17, 20 October 2010 (UTC)<br /> <br /> ==Lab Questions==<br /> <br /> ===Lab 1 Questions===<br /> <br /> Complete tasks associated with the online individual and group assessments including:<br /> <br /> 1. Demonstrate the ability to create an attendance signature.<br /> <br /> 2. Create a subheading, link and add an image to student page.<br /> <br /> learning to use page<br /> <br /> internal link [[2010_Lecture_2|Cell division]]<br /> <br /> external link [http://www.smh.com.au/ SMH]<br /> <br /> [[Fertilization|lecture 2]]<br /> <br /> picture<br /> <br /> [[File:Early_zygote.jpg|right]]<br /> <br /> ====Search Pubmed====<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed Now:''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> <br /> 3. Vote here (with student signature) for the major topic for the group project before Lab 2.<br /> <br /> ===Lab 2 Questions===<br /> <br /> 1. What factor do the synctiotrophoblast cells secrete to support the ongoing pregnancy?<br /> <br /> Syncytiotrophoblasts secrete Human Chorionic Gonadotropin (hCG) hormone, which prevents degeneration of the corpus luteum <br /> <br /> 2. What does the corpus luteum secrete to prevent continuation of the menstrual cycle?<br /> <br /> Progesterone, which helps make the endometrial lining ready for implantation if an egg is fertilized. Progesterone also changes the endometrium to a secretory lining (from proliferative), which creates an ideal environment for the blastocyst.<br /> <br /> ===Lab 3 Questions===<br /> <br /> <br /> <br /> 1. What Carnegie stages occur during week 3 and week 4?<br /> <br /> Carnegie stages 7 (gastrulation and notochord formation) to 13 (Somite no. 21-29, caudal neuropore closes)<br /> <br /> 2. What is the change in overall embryo size form the beginning of week 3 to the end of week 4?<br /> <br /> embryo has grown 2.6mm to 4.6mm. (week 4. 3mm to 5mm - week 3. 0.4mm)<br /> <br /> 3. Approximately when do the cranial (anterior) and caudal (posterior) neuropores close in the human embryo? <br /> <br /> Cranial neuropore closes at carnegie stage 11, which is 23-26 days<br /> <br /> Caudal neuropore closes at carnegie stage 12-13, which is 26-30 days<br /> <br /> ===Lab 4 Questions===<br /> <br /> 1. Name the vessels that drain into the sinus venosus?<br /> <br /> the three venous inputs that drain into the sinus venosus are the vitelline vein, umbilical vein and common cardinal vein<br /> <br /> 2. What is the fate of the vitelline artery and vitelline vein?<br /> <br /> Vitelline arteries - arises from dorsal aorta, contribute to adult GIT arteries, fuse to become superior mesenteric artery<br /> <br /> Vitelline veins - empties into sinus venosus, contribute to the adult portal system<br /> <br /> 3. Name the 4 layers that constitute the placental barrier?<br /> <br /> syncitiotrophoblast, cytotrophoblast, villi connective tissue and fetal capillary endothelium<br /> <br /> 4. What stem cells are found in abundance, and may be harvested from the placenta for therapeutic uses?<br /> <br /> hematopoietic stem cells<br /> <br /> ===Lab 5 Questions===<br /> <br /> 1. What is the origin of the gastrointestinal tract smooth muscle? <br /> <br /> Splanchnic mesoderm<br /> <br /> 2. At what Carnegie stage does the buccopharyngeal membrane begin to break down? <br /> <br /> Carnegie stage 11<br /> <br /> 3. Identify the lung developmental stage in late embryonic to early fetal period. <br /> <br /> Lung development, budding of lungs from the trachea, starts to occur in Carnegie stage 22<br /> <br /> 4. In premature infant birth, which respiratory cell type may not have fully developed?<br /> <br /> Pnuemocytes type 2 (or alveolar type 2 cells) which produce surfactant.<br /> <br /> ===Lab 7 Questions===<br /> <br /> 1. Briefly; what is a myotube and how is it formed?<br /> <br /> myotubes are multi-nucleated cells which are formed by the the fusion of myoblasts <br /> <br /> 2. What changes would I expect to see in the muscle fibre types in my legs if I:<br /> <br /> a) Suffered a spinal cord injury: <br /> <br /> muscle atrophy in the legs. <br /> <br /> b) Took up marathon running: <br /> <br /> some of the fast muscle fibers in the legs would change to slow fibers.<br /> <br /> <br /> ----<br /> <br /> ===Peer Review Task===<br /> <br /> '''Group 1:''' The layout is really easy to follow, everything seems to be in the right order and flow really well. i could easily follow what they had written. One thing i found especially impressive, was that they had taken the time to explain every image when you click on it. this would've taken a lot of time and effort that isn't immediately available to see, but helpful if you need to know more about the image, you just click on it. <br /> What could be improved: in one of the tables, under the heading minor signs of trisomies, pleuxs should be plexus. i didnt see any other spelling mistakes though. Also, it seems only one person has contributed most of the work, and there are three in the group. i found this to be the case for most pages.<br /> <br /> <br /> '''Group 3:''' <br /> This project is very well written, and easy to follow. i loved the disorders section, with the table, graph and pictures it made it really easy to follow, and interesting! when you see a picture like the anencephaly one, it makes you stop and read what its about! I also like how many student drawn diagrams there are, they have really put in a lot of effort. I definitely learnt a lot from reading this page.<br /> <br /> What could be improved: The ethics section has no references, also the current research section seems to be copied straight from the internet. there are also a few spelling mistakes in the ethics section - waranted=warranted, phsychological=psychological<br /> <br /> <br /> '''Group 4:'''<br /> Felicias drawings are amazing! they go into so much detail and she has clearly put in so much effort in doing them! That was the first thing i noticed when looking at the page. I actually really like the overall feel of the page, and the bigger pictures help. The first two pictures really caught my attention and made me want to read all about PUBS. I did like all the dot points, because they made it a little easier to follow, but maybe a little simplistic. <br /> <br /> Improvements: Under the sample analysis heading, they have put 'the' twice. just need to delete one. Under the disorders section, they have put that unlike PUBS, CVS and amniocentesis do test for neural tube defects. CVS doesnt test for neural tube defects, only amniocentesis. Alot of the page in not referenced. Other than that, awesome job!<br /> <br /> <br /> '''Group 5:'''<br /> I liked the fact that everything is referenced, it made me feel like they have really researched what they have put on there. The page is very informative, if not a little simplistic, but i learnt alot about fetal fibronectin. i liked the student drawn diagram!<br /> <br /> improvements: definitely extra pictures. If you cant find any that you can use, start emailing the companies, this is how i got most of our permissions, as i couldnt find any with permissions. as a last resort try wiki, all of their pictures arent copyright protected. Also, probably best to go through the criteria for the page, youve missed the history altogether. Here it is for you:<br /> project outline:<br /> <br /> 1. Intro<br /> <br /> 2. historic background<br /> <br /> 3. current associated research<br /> <br /> 4. simplified description of technique<br /> <br /> 5. student drawn figure or animation<br /> <br /> 6. reference list<br /> <br /> 7. glossary<br /> <br /> 8. external links<br /> <br /> <br /> '''Group 6:'''<br /> <br /> I like how the page is organised, its easy to follow and the layout was great. The pictures helped me with understanding the sections, although maybe they could be a bit bigger. I did learn alot about Maternal serum alpha-fetoprotein from this page, Thanks!<br /> <br /> Improvements: Under the heading MSAFP testing and the community, there is a spelling mistake. liklihood should be likelihood, and servey should be survey. The page also looks a bit like an essay, maybe for some parts you could do a few tables to make it easier to follow<br /> <br /> ----<br /> <br /> ===Lab 10 Questions===<br /> <br /> 1. Development of which endocrine organ is affected by low dietary iodine? <br /> <br /> Thyroid<br /> <br /> 2. What are the affects of this deficiency on other non-endocrine system development? <br /> <br /> leads to neurological defects (cretinism) as thyroid is needed for neural development, hypothyroidism, low body weight, poor muscle tone, low body temperature. <br /> <br /> 3. At approximately what week in development do many endocrine organs appear to begin their function?<br /> <br /> At around week 10 most endocrine organs begin secreting hormones</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3265772&diff=41415 2010-10-19T07:31:25Z

<p>Z3265772: /* Attendance */</p> <hr /> <div>===Group 2===<br /> <br /> [[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> <br /> ==Attendance==<br /> <br /> Jill<br /> <br /> here--[[User:Z3265772|z3265772]] 23:43, 28 July 2010 (UTC)<br /> <br /> here--[[User:Z3265772|z3265772]] 22:57, 4 August 2010 (UTC)<br /> <br /> here--[[User:Z3265772|z3265772]] 23:14, 11 August 2010 (UTC)<br /> <br /> still here--[[User:Z3265772|z3265772]] 00:03, 19 August 2010 (UTC)<br /> <br /> always here--[[User:Z3265772|z3265772]] 23:06, 25 August 2010 (UTC)<br /> <br /> here--[[User:Z3265772|z3265772]] 23:54, 1 September 2010 (UTC)<br /> <br /> here--[[User:Z3265772|z3265772]] 23:08, 15 September 2010 (UTC)<br /> <br /> here--[[User:Z3265772|z3265772]] 23:13, 22 September 2010 (UTC)<br /> <br /> here--[[User:Z3265772|z3265772]] 23:18, 29 September 2010 (UTC)<br /> <br /> here--[[User:Z3265772|z3265772]] 22:05, 6 October 2010 (UTC)<br /> <br /> here--[[User:Z3265772|z3265772]] 22:25, 13 October 2010 (UTC)<br /> <br /> here for every lab :)<br /> <br /> ==Lab Questions==<br /> <br /> ===Lab 1 Questions===<br /> <br /> Complete tasks associated with the online individual and group assessments including:<br /> <br /> 1. Demonstrate the ability to create an attendance signature.<br /> <br /> 2. Create a subheading, link and add an image to student page.<br /> <br /> learning to use page<br /> <br /> internal link [[2010_Lecture_2|Cell division]]<br /> <br /> external link [http://www.smh.com.au/ SMH]<br /> <br /> [[Fertilization|lecture 2]]<br /> <br /> picture<br /> <br /> [[File:Early_zygote.jpg|right]]<br /> <br /> ====Search Pubmed====<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed Now:''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> <br /> 3. Vote here (with student signature) for the major topic for the group project before Lab 2.<br /> <br /> ===Lab 2 Questions===<br /> <br /> 1. What factor do the synctiotrophoblast cells secrete to support the ongoing pregnancy?<br /> <br /> Syncytiotrophoblasts secrete Human Chorionic Gonadotropin (hCG) hormone, which prevents degeneration of the corpus luteum <br /> <br /> 2. What does the corpus luteum secrete to prevent continuation of the menstrual cycle?<br /> <br /> Progesterone, which helps make the endometrial lining ready for implantation if an egg is fertilized. Progesterone also changes the endometrium to a secretory lining (from proliferative), which creates an ideal environment for the blastocyst.<br /> <br /> ===Lab 3 Questions===<br /> <br /> <br /> <br /> 1. What Carnegie stages occur during week 3 and week 4?<br /> <br /> Carnegie stages 7 (gastrulation and notochord formation) to 13 (Somite no. 21-29, caudal neuropore closes)<br /> <br /> 2. What is the change in overall embryo size form the beginning of week 3 to the end of week 4?<br /> <br /> embryo has grown 2.6mm to 4.6mm. (week 4. 3mm to 5mm - week 3. 0.4mm)<br /> <br /> 3. Approximately when do the cranial (anterior) and caudal (posterior) neuropores close in the human embryo? <br /> <br /> Cranial neuropore closes at carnegie stage 11, which is 23-26 days<br /> <br /> Caudal neuropore closes at carnegie stage 12-13, which is 26-30 days<br /> <br /> ===Lab 4 Questions===<br /> <br /> 1. Name the vessels that drain into the sinus venosus?<br /> <br /> the three venous inputs that drain into the sinus venosus are the vitelline vein, umbilical vein and common cardinal vein<br /> <br /> 2. What is the fate of the vitelline artery and vitelline vein?<br /> <br /> Vitelline arteries - arises from dorsal aorta, contribute to adult GIT arteries, fuse to become superior mesenteric artery<br /> <br /> Vitelline veins - empties into sinus venosus, contribute to the adult portal system<br /> <br /> 3. Name the 4 layers that constitute the placental barrier?<br /> <br /> syncitiotrophoblast, cytotrophoblast, villi connective tissue and fetal capillary endothelium<br /> <br /> 4. What stem cells are found in abundance, and may be harvested from the placenta for therapeutic uses?<br /> <br /> hematopoietic stem cells<br /> <br /> ===Lab 5 Questions===<br /> <br /> 1. What is the origin of the gastrointestinal tract smooth muscle? <br /> <br /> Splanchnic mesoderm<br /> <br /> 2. At what Carnegie stage does the buccopharyngeal membrane begin to break down? <br /> <br /> Carnegie stage 11<br /> <br /> 3. Identify the lung developmental stage in late embryonic to early fetal period. <br /> <br /> Lung development, budding of lungs from the trachea, starts to occur in Carnegie stage 22<br /> <br /> 4. In premature infant birth, which respiratory cell type may not have fully developed?<br /> <br /> Pnuemocytes type 2 (or alveolar type 2 cells) which produce surfactant.<br /> <br /> ===Lab 7 Questions===<br /> <br /> 1. Briefly; what is a myotube and how is it formed?<br /> <br /> myotubes are multi-nucleated cells which are formed by the the fusion of myoblasts <br /> <br /> 2. What changes would I expect to see in the muscle fibre types in my legs if I:<br /> <br /> a) Suffered a spinal cord injury: <br /> <br /> muscle atrophy in the legs. <br /> <br /> b) Took up marathon running: <br /> <br /> some of the fast muscle fibers in the legs would change to slow fibers.<br /> <br /> <br /> ----<br /> <br /> ===Peer Review Task===<br /> <br /> '''Group 1:''' The layout is really easy to follow, everything seems to be in the right order and flow really well. i could easily follow what they had written. One thing i found especially impressive, was that they had taken the time to explain every image when you click on it. this would've taken a lot of time and effort that isn't immediately available to see, but helpful if you need to know more about the image, you just click on it. <br /> What could be improved: in one of the tables, under the heading minor signs of trisomies, pleuxs should be plexus. i didnt see any other spelling mistakes though. Also, it seems only one person has contributed most of the work, and there are three in the group. i found this to be the case for most pages.<br /> <br /> <br /> '''Group 3:''' <br /> This project is very well written, and easy to follow. i loved the disorders section, with the table, graph and pictures it made it really easy to follow, and interesting! when you see a picture like the anencephaly one, it makes you stop and read what its about! I also like how many student drawn diagrams there are, they have really put in a lot of effort. I definitely learnt a lot from reading this page.<br /> <br /> What could be improved: The ethics section has no references, also the current research section seems to be copied straight from the internet. there are also a few spelling mistakes in the ethics section - waranted=warranted, phsychological=psychological<br /> <br /> <br /> '''Group 4:'''<br /> Felicias drawings are amazing! they go into so much detail and she has clearly put in so much effort in doing them! That was the first thing i noticed when looking at the page. I actually really like the overall feel of the page, and the bigger pictures help. The first two pictures really caught my attention and made me want to read all about PUBS. I did like all the dot points, because they made it a little easier to follow, but maybe a little simplistic. <br /> <br /> Improvements: Under the sample analysis heading, they have put 'the' twice. just need to delete one. Under the disorders section, they have put that unlike PUBS, CVS and amniocentesis do test for neural tube defects. CVS doesnt test for neural tube defects, only amniocentesis. Alot of the page in not referenced. Other than that, awesome job!<br /> <br /> <br /> '''Group 5:'''<br /> I liked the fact that everything is referenced, it made me feel like they have really researched what they have put on there. The page is very informative, if not a little simplistic, but i learnt alot about fetal fibronectin. i liked the student drawn diagram!<br /> <br /> improvements: definitely extra pictures. If you cant find any that you can use, start emailing the companies, this is how i got most of our permissions, as i couldnt find any with permissions. as a last resort try wiki, all of their pictures arent copyright protected. Also, probably best to go through the criteria for the page, youve missed the history altogether. Here it is for you:<br /> project outline:<br /> <br /> 1. Intro<br /> <br /> 2. historic background<br /> <br /> 3. current associated research<br /> <br /> 4. simplified description of technique<br /> <br /> 5. student drawn figure or animation<br /> <br /> 6. reference list<br /> <br /> 7. glossary<br /> <br /> 8. external links<br /> <br /> <br /> '''Group 6:'''<br /> <br /> I like how the page is organised, its easy to follow and the layout was great. The pictures helped me with understanding the sections, although maybe they could be a bit bigger. I did learn alot about Maternal serum alpha-fetoprotein from this page, Thanks!<br /> <br /> Improvements: Under the heading MSAFP testing and the community, there is a spelling mistake. liklihood should be likelihood, and servey should be survey. The page also looks a bit like an essay, maybe for some parts you could do a few tables to make it easier to follow<br /> <br /> ----<br /> <br /> ===Lab 10 Questions===<br /> <br /> 1. Development of which endocrine organ is affected by low dietary iodine? <br /> <br /> Thyroid<br /> <br /> 2. What are the affects of this deficiency on other non-endocrine system development? <br /> <br /> leads to neurological defects (cretinism) as thyroid is needed for neural development, hypothyroidism, low body weight, poor muscle tone, low body temperature. <br /> <br /> 3. At approximately what week in development do many endocrine organs appear to begin their function?<br /> <br /> At around week 10 most endocrine organs begin secreting hormones</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3265772&diff=41414 2010-10-19T07:30:25Z

<p>Z3265772: /* Attendance */</p> <hr /> <div>===Group 2===<br /> <br /> [[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> <br /> ==Attendance==<br /> <br /> here--[[User:Z3265772|z3265772]] 23:43, 28 July 2010 (UTC)<br /> <br /> here--[[User:Z3265772|z3265772]] 22:57, 4 August 2010 (UTC)<br /> <br /> here--[[User:Z3265772|z3265772]] 23:14, 11 August 2010 (UTC)<br /> <br /> still here--[[User:Z3265772|z3265772]] 00:03, 19 August 2010 (UTC)<br /> <br /> always here--[[User:Z3265772|z3265772]] 23:06, 25 August 2010 (UTC)<br /> <br /> here--[[User:Z3265772|z3265772]] 23:54, 1 September 2010 (UTC)<br /> <br /> here--[[User:Z3265772|z3265772]] 23:08, 15 September 2010 (UTC)<br /> <br /> here--[[User:Z3265772|z3265772]] 23:13, 22 September 2010 (UTC)<br /> <br /> here--[[User:Z3265772|z3265772]] 23:18, 29 September 2010 (UTC)<br /> <br /> here--[[User:Z3265772|z3265772]] 22:05, 6 October 2010 (UTC)<br /> <br /> here--[[User:Z3265772|z3265772]] 22:25, 13 October 2010 (UTC)<br /> <br /> here for every lab :)<br /> <br /> ==Lab Questions==<br /> <br /> ===Lab 1 Questions===<br /> <br /> Complete tasks associated with the online individual and group assessments including:<br /> <br /> 1. Demonstrate the ability to create an attendance signature.<br /> <br /> 2. Create a subheading, link and add an image to student page.<br /> <br /> learning to use page<br /> <br /> internal link [[2010_Lecture_2|Cell division]]<br /> <br /> external link [http://www.smh.com.au/ SMH]<br /> <br /> [[Fertilization|lecture 2]]<br /> <br /> picture<br /> <br /> [[File:Early_zygote.jpg|right]]<br /> <br /> ====Search Pubmed====<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed Now:''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> <br /> 3. Vote here (with student signature) for the major topic for the group project before Lab 2.<br /> <br /> ===Lab 2 Questions===<br /> <br /> 1. What factor do the synctiotrophoblast cells secrete to support the ongoing pregnancy?<br /> <br /> Syncytiotrophoblasts secrete Human Chorionic Gonadotropin (hCG) hormone, which prevents degeneration of the corpus luteum <br /> <br /> 2. What does the corpus luteum secrete to prevent continuation of the menstrual cycle?<br /> <br /> Progesterone, which helps make the endometrial lining ready for implantation if an egg is fertilized. Progesterone also changes the endometrium to a secretory lining (from proliferative), which creates an ideal environment for the blastocyst.<br /> <br /> ===Lab 3 Questions===<br /> <br /> <br /> <br /> 1. What Carnegie stages occur during week 3 and week 4?<br /> <br /> Carnegie stages 7 (gastrulation and notochord formation) to 13 (Somite no. 21-29, caudal neuropore closes)<br /> <br /> 2. What is the change in overall embryo size form the beginning of week 3 to the end of week 4?<br /> <br /> embryo has grown 2.6mm to 4.6mm. (week 4. 3mm to 5mm - week 3. 0.4mm)<br /> <br /> 3. Approximately when do the cranial (anterior) and caudal (posterior) neuropores close in the human embryo? <br /> <br /> Cranial neuropore closes at carnegie stage 11, which is 23-26 days<br /> <br /> Caudal neuropore closes at carnegie stage 12-13, which is 26-30 days<br /> <br /> ===Lab 4 Questions===<br /> <br /> 1. Name the vessels that drain into the sinus venosus?<br /> <br /> the three venous inputs that drain into the sinus venosus are the vitelline vein, umbilical vein and common cardinal vein<br /> <br /> 2. What is the fate of the vitelline artery and vitelline vein?<br /> <br /> Vitelline arteries - arises from dorsal aorta, contribute to adult GIT arteries, fuse to become superior mesenteric artery<br /> <br /> Vitelline veins - empties into sinus venosus, contribute to the adult portal system<br /> <br /> 3. Name the 4 layers that constitute the placental barrier?<br /> <br /> syncitiotrophoblast, cytotrophoblast, villi connective tissue and fetal capillary endothelium<br /> <br /> 4. What stem cells are found in abundance, and may be harvested from the placenta for therapeutic uses?<br /> <br /> hematopoietic stem cells<br /> <br /> ===Lab 5 Questions===<br /> <br /> 1. What is the origin of the gastrointestinal tract smooth muscle? <br /> <br /> Splanchnic mesoderm<br /> <br /> 2. At what Carnegie stage does the buccopharyngeal membrane begin to break down? <br /> <br /> Carnegie stage 11<br /> <br /> 3. Identify the lung developmental stage in late embryonic to early fetal period. <br /> <br /> Lung development, budding of lungs from the trachea, starts to occur in Carnegie stage 22<br /> <br /> 4. In premature infant birth, which respiratory cell type may not have fully developed?<br /> <br /> Pnuemocytes type 2 (or alveolar type 2 cells) which produce surfactant.<br /> <br /> ===Lab 7 Questions===<br /> <br /> 1. Briefly; what is a myotube and how is it formed?<br /> <br /> myotubes are multi-nucleated cells which are formed by the the fusion of myoblasts <br /> <br /> 2. What changes would I expect to see in the muscle fibre types in my legs if I:<br /> <br /> a) Suffered a spinal cord injury: <br /> <br /> muscle atrophy in the legs. <br /> <br /> b) Took up marathon running: <br /> <br /> some of the fast muscle fibers in the legs would change to slow fibers.<br /> <br /> <br /> ----<br /> <br /> ===Peer Review Task===<br /> <br /> '''Group 1:''' The layout is really easy to follow, everything seems to be in the right order and flow really well. i could easily follow what they had written. One thing i found especially impressive, was that they had taken the time to explain every image when you click on it. this would've taken a lot of time and effort that isn't immediately available to see, but helpful if you need to know more about the image, you just click on it. <br /> What could be improved: in one of the tables, under the heading minor signs of trisomies, pleuxs should be plexus. i didnt see any other spelling mistakes though. Also, it seems only one person has contributed most of the work, and there are three in the group. i found this to be the case for most pages.<br /> <br /> <br /> '''Group 3:''' <br /> This project is very well written, and easy to follow. i loved the disorders section, with the table, graph and pictures it made it really easy to follow, and interesting! when you see a picture like the anencephaly one, it makes you stop and read what its about! I also like how many student drawn diagrams there are, they have really put in a lot of effort. I definitely learnt a lot from reading this page.<br /> <br /> What could be improved: The ethics section has no references, also the current research section seems to be copied straight from the internet. there are also a few spelling mistakes in the ethics section - waranted=warranted, phsychological=psychological<br /> <br /> <br /> '''Group 4:'''<br /> Felicias drawings are amazing! they go into so much detail and she has clearly put in so much effort in doing them! That was the first thing i noticed when looking at the page. I actually really like the overall feel of the page, and the bigger pictures help. The first two pictures really caught my attention and made me want to read all about PUBS. I did like all the dot points, because they made it a little easier to follow, but maybe a little simplistic. <br /> <br /> Improvements: Under the sample analysis heading, they have put 'the' twice. just need to delete one. Under the disorders section, they have put that unlike PUBS, CVS and amniocentesis do test for neural tube defects. CVS doesnt test for neural tube defects, only amniocentesis. Alot of the page in not referenced. Other than that, awesome job!<br /> <br /> <br /> '''Group 5:'''<br /> I liked the fact that everything is referenced, it made me feel like they have really researched what they have put on there. The page is very informative, if not a little simplistic, but i learnt alot about fetal fibronectin. i liked the student drawn diagram!<br /> <br /> improvements: definitely extra pictures. If you cant find any that you can use, start emailing the companies, this is how i got most of our permissions, as i couldnt find any with permissions. as a last resort try wiki, all of their pictures arent copyright protected. Also, probably best to go through the criteria for the page, youve missed the history altogether. Here it is for you:<br /> project outline:<br /> <br /> 1. Intro<br /> <br /> 2. historic background<br /> <br /> 3. current associated research<br /> <br /> 4. simplified description of technique<br /> <br /> 5. student drawn figure or animation<br /> <br /> 6. reference list<br /> <br /> 7. glossary<br /> <br /> 8. external links<br /> <br /> <br /> '''Group 6:'''<br /> <br /> I like how the page is organised, its easy to follow and the layout was great. The pictures helped me with understanding the sections, although maybe they could be a bit bigger. I did learn alot about Maternal serum alpha-fetoprotein from this page, Thanks!<br /> <br /> Improvements: Under the heading MSAFP testing and the community, there is a spelling mistake. liklihood should be likelihood, and servey should be survey. The page also looks a bit like an essay, maybe for some parts you could do a few tables to make it easier to follow<br /> <br /> ----<br /> <br /> ===Lab 10 Questions===<br /> <br /> 1. Development of which endocrine organ is affected by low dietary iodine? <br /> <br /> Thyroid<br /> <br /> 2. What are the affects of this deficiency on other non-endocrine system development? <br /> <br /> leads to neurological defects (cretinism) as thyroid is needed for neural development, hypothyroidism, low body weight, poor muscle tone, low body temperature. <br /> <br /> 3. At approximately what week in development do many endocrine organs appear to begin their function?<br /> <br /> At around week 10 most endocrine organs begin secreting hormones</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3265772&diff=41413 2010-10-19T07:28:55Z

<p>Z3265772: /* Lab 10 Questions */</p> <hr /> <div>===Group 2===<br /> <br /> [[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> <br /> ==Attendance==<br /> <br /> --[[User:Z3265772|z3265772]] 23:43, 28 July 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 22:57, 4 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:14, 11 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 00:03, 19 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:06, 25 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:54, 1 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:08, 15 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:13, 22 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:18, 29 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 22:05, 6 October 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 22:25, 13 October 2010 (UTC)<br /> <br /> ==Lab Questions==<br /> <br /> ===Lab 1 Questions===<br /> <br /> Complete tasks associated with the online individual and group assessments including:<br /> <br /> 1. Demonstrate the ability to create an attendance signature.<br /> <br /> 2. Create a subheading, link and add an image to student page.<br /> <br /> learning to use page<br /> <br /> internal link [[2010_Lecture_2|Cell division]]<br /> <br /> external link [http://www.smh.com.au/ SMH]<br /> <br /> [[Fertilization|lecture 2]]<br /> <br /> picture<br /> <br /> [[File:Early_zygote.jpg|right]]<br /> <br /> ====Search Pubmed====<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed Now:''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> <br /> 3. Vote here (with student signature) for the major topic for the group project before Lab 2.<br /> <br /> ===Lab 2 Questions===<br /> <br /> 1. What factor do the synctiotrophoblast cells secrete to support the ongoing pregnancy?<br /> <br /> Syncytiotrophoblasts secrete Human Chorionic Gonadotropin (hCG) hormone, which prevents degeneration of the corpus luteum <br /> <br /> 2. What does the corpus luteum secrete to prevent continuation of the menstrual cycle?<br /> <br /> Progesterone, which helps make the endometrial lining ready for implantation if an egg is fertilized. Progesterone also changes the endometrium to a secretory lining (from proliferative), which creates an ideal environment for the blastocyst.<br /> <br /> ===Lab 3 Questions===<br /> <br /> <br /> <br /> 1. What Carnegie stages occur during week 3 and week 4?<br /> <br /> Carnegie stages 7 (gastrulation and notochord formation) to 13 (Somite no. 21-29, caudal neuropore closes)<br /> <br /> 2. What is the change in overall embryo size form the beginning of week 3 to the end of week 4?<br /> <br /> embryo has grown 2.6mm to 4.6mm. (week 4. 3mm to 5mm - week 3. 0.4mm)<br /> <br /> 3. Approximately when do the cranial (anterior) and caudal (posterior) neuropores close in the human embryo? <br /> <br /> Cranial neuropore closes at carnegie stage 11, which is 23-26 days<br /> <br /> Caudal neuropore closes at carnegie stage 12-13, which is 26-30 days<br /> <br /> ===Lab 4 Questions===<br /> <br /> 1. Name the vessels that drain into the sinus venosus?<br /> <br /> the three venous inputs that drain into the sinus venosus are the vitelline vein, umbilical vein and common cardinal vein<br /> <br /> 2. What is the fate of the vitelline artery and vitelline vein?<br /> <br /> Vitelline arteries - arises from dorsal aorta, contribute to adult GIT arteries, fuse to become superior mesenteric artery<br /> <br /> Vitelline veins - empties into sinus venosus, contribute to the adult portal system<br /> <br /> 3. Name the 4 layers that constitute the placental barrier?<br /> <br /> syncitiotrophoblast, cytotrophoblast, villi connective tissue and fetal capillary endothelium<br /> <br /> 4. What stem cells are found in abundance, and may be harvested from the placenta for therapeutic uses?<br /> <br /> hematopoietic stem cells<br /> <br /> ===Lab 5 Questions===<br /> <br /> 1. What is the origin of the gastrointestinal tract smooth muscle? <br /> <br /> Splanchnic mesoderm<br /> <br /> 2. At what Carnegie stage does the buccopharyngeal membrane begin to break down? <br /> <br /> Carnegie stage 11<br /> <br /> 3. Identify the lung developmental stage in late embryonic to early fetal period. <br /> <br /> Lung development, budding of lungs from the trachea, starts to occur in Carnegie stage 22<br /> <br /> 4. In premature infant birth, which respiratory cell type may not have fully developed?<br /> <br /> Pnuemocytes type 2 (or alveolar type 2 cells) which produce surfactant.<br /> <br /> ===Lab 7 Questions===<br /> <br /> 1. Briefly; what is a myotube and how is it formed?<br /> <br /> myotubes are multi-nucleated cells which are formed by the the fusion of myoblasts <br /> <br /> 2. What changes would I expect to see in the muscle fibre types in my legs if I:<br /> <br /> a) Suffered a spinal cord injury: <br /> <br /> muscle atrophy in the legs. <br /> <br /> b) Took up marathon running: <br /> <br /> some of the fast muscle fibers in the legs would change to slow fibers.<br /> <br /> <br /> ----<br /> <br /> ===Peer Review Task===<br /> <br /> '''Group 1:''' The layout is really easy to follow, everything seems to be in the right order and flow really well. i could easily follow what they had written. One thing i found especially impressive, was that they had taken the time to explain every image when you click on it. this would've taken a lot of time and effort that isn't immediately available to see, but helpful if you need to know more about the image, you just click on it. <br /> What could be improved: in one of the tables, under the heading minor signs of trisomies, pleuxs should be plexus. i didnt see any other spelling mistakes though. Also, it seems only one person has contributed most of the work, and there are three in the group. i found this to be the case for most pages.<br /> <br /> <br /> '''Group 3:''' <br /> This project is very well written, and easy to follow. i loved the disorders section, with the table, graph and pictures it made it really easy to follow, and interesting! when you see a picture like the anencephaly one, it makes you stop and read what its about! I also like how many student drawn diagrams there are, they have really put in a lot of effort. I definitely learnt a lot from reading this page.<br /> <br /> What could be improved: The ethics section has no references, also the current research section seems to be copied straight from the internet. there are also a few spelling mistakes in the ethics section - waranted=warranted, phsychological=psychological<br /> <br /> <br /> '''Group 4:'''<br /> Felicias drawings are amazing! they go into so much detail and she has clearly put in so much effort in doing them! That was the first thing i noticed when looking at the page. I actually really like the overall feel of the page, and the bigger pictures help. The first two pictures really caught my attention and made me want to read all about PUBS. I did like all the dot points, because they made it a little easier to follow, but maybe a little simplistic. <br /> <br /> Improvements: Under the sample analysis heading, they have put 'the' twice. just need to delete one. Under the disorders section, they have put that unlike PUBS, CVS and amniocentesis do test for neural tube defects. CVS doesnt test for neural tube defects, only amniocentesis. Alot of the page in not referenced. Other than that, awesome job!<br /> <br /> <br /> '''Group 5:'''<br /> I liked the fact that everything is referenced, it made me feel like they have really researched what they have put on there. The page is very informative, if not a little simplistic, but i learnt alot about fetal fibronectin. i liked the student drawn diagram!<br /> <br /> improvements: definitely extra pictures. If you cant find any that you can use, start emailing the companies, this is how i got most of our permissions, as i couldnt find any with permissions. as a last resort try wiki, all of their pictures arent copyright protected. Also, probably best to go through the criteria for the page, youve missed the history altogether. Here it is for you:<br /> project outline:<br /> <br /> 1. Intro<br /> <br /> 2. historic background<br /> <br /> 3. current associated research<br /> <br /> 4. simplified description of technique<br /> <br /> 5. student drawn figure or animation<br /> <br /> 6. reference list<br /> <br /> 7. glossary<br /> <br /> 8. external links<br /> <br /> <br /> '''Group 6:'''<br /> <br /> I like how the page is organised, its easy to follow and the layout was great. The pictures helped me with understanding the sections, although maybe they could be a bit bigger. I did learn alot about Maternal serum alpha-fetoprotein from this page, Thanks!<br /> <br /> Improvements: Under the heading MSAFP testing and the community, there is a spelling mistake. liklihood should be likelihood, and servey should be survey. The page also looks a bit like an essay, maybe for some parts you could do a few tables to make it easier to follow<br /> <br /> ----<br /> <br /> ===Lab 10 Questions===<br /> <br /> 1. Development of which endocrine organ is affected by low dietary iodine? <br /> <br /> Thyroid<br /> <br /> 2. What are the affects of this deficiency on other non-endocrine system development? <br /> <br /> leads to neurological defects (cretinism) as thyroid is needed for neural development, hypothyroidism, low body weight, poor muscle tone, low body temperature. <br /> <br /> 3. At approximately what week in development do many endocrine organs appear to begin their function?<br /> <br /> At around week 10 most endocrine organs begin secreting hormones</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3265772&diff=41412 2010-10-19T07:22:36Z

<p>Z3265772: /* Lab 10 Questions */</p> <hr /> <div>===Group 2===<br /> <br /> [[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> <br /> ==Attendance==<br /> <br /> --[[User:Z3265772|z3265772]] 23:43, 28 July 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 22:57, 4 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:14, 11 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 00:03, 19 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:06, 25 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:54, 1 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:08, 15 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:13, 22 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:18, 29 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 22:05, 6 October 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 22:25, 13 October 2010 (UTC)<br /> <br /> ==Lab Questions==<br /> <br /> ===Lab 1 Questions===<br /> <br /> Complete tasks associated with the online individual and group assessments including:<br /> <br /> 1. Demonstrate the ability to create an attendance signature.<br /> <br /> 2. Create a subheading, link and add an image to student page.<br /> <br /> learning to use page<br /> <br /> internal link [[2010_Lecture_2|Cell division]]<br /> <br /> external link [http://www.smh.com.au/ SMH]<br /> <br /> [[Fertilization|lecture 2]]<br /> <br /> picture<br /> <br /> [[File:Early_zygote.jpg|right]]<br /> <br /> ====Search Pubmed====<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed Now:''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> <br /> 3. Vote here (with student signature) for the major topic for the group project before Lab 2.<br /> <br /> ===Lab 2 Questions===<br /> <br /> 1. What factor do the synctiotrophoblast cells secrete to support the ongoing pregnancy?<br /> <br /> Syncytiotrophoblasts secrete Human Chorionic Gonadotropin (hCG) hormone, which prevents degeneration of the corpus luteum <br /> <br /> 2. What does the corpus luteum secrete to prevent continuation of the menstrual cycle?<br /> <br /> Progesterone, which helps make the endometrial lining ready for implantation if an egg is fertilized. Progesterone also changes the endometrium to a secretory lining (from proliferative), which creates an ideal environment for the blastocyst.<br /> <br /> ===Lab 3 Questions===<br /> <br /> <br /> <br /> 1. What Carnegie stages occur during week 3 and week 4?<br /> <br /> Carnegie stages 7 (gastrulation and notochord formation) to 13 (Somite no. 21-29, caudal neuropore closes)<br /> <br /> 2. What is the change in overall embryo size form the beginning of week 3 to the end of week 4?<br /> <br /> embryo has grown 2.6mm to 4.6mm. (week 4. 3mm to 5mm - week 3. 0.4mm)<br /> <br /> 3. Approximately when do the cranial (anterior) and caudal (posterior) neuropores close in the human embryo? <br /> <br /> Cranial neuropore closes at carnegie stage 11, which is 23-26 days<br /> <br /> Caudal neuropore closes at carnegie stage 12-13, which is 26-30 days<br /> <br /> ===Lab 4 Questions===<br /> <br /> 1. Name the vessels that drain into the sinus venosus?<br /> <br /> the three venous inputs that drain into the sinus venosus are the vitelline vein, umbilical vein and common cardinal vein<br /> <br /> 2. What is the fate of the vitelline artery and vitelline vein?<br /> <br /> Vitelline arteries - arises from dorsal aorta, contribute to adult GIT arteries, fuse to become superior mesenteric artery<br /> <br /> Vitelline veins - empties into sinus venosus, contribute to the adult portal system<br /> <br /> 3. Name the 4 layers that constitute the placental barrier?<br /> <br /> syncitiotrophoblast, cytotrophoblast, villi connective tissue and fetal capillary endothelium<br /> <br /> 4. What stem cells are found in abundance, and may be harvested from the placenta for therapeutic uses?<br /> <br /> hematopoietic stem cells<br /> <br /> ===Lab 5 Questions===<br /> <br /> 1. What is the origin of the gastrointestinal tract smooth muscle? <br /> <br /> Splanchnic mesoderm<br /> <br /> 2. At what Carnegie stage does the buccopharyngeal membrane begin to break down? <br /> <br /> Carnegie stage 11<br /> <br /> 3. Identify the lung developmental stage in late embryonic to early fetal period. <br /> <br /> Lung development, budding of lungs from the trachea, starts to occur in Carnegie stage 22<br /> <br /> 4. In premature infant birth, which respiratory cell type may not have fully developed?<br /> <br /> Pnuemocytes type 2 (or alveolar type 2 cells) which produce surfactant.<br /> <br /> ===Lab 7 Questions===<br /> <br /> 1. Briefly; what is a myotube and how is it formed?<br /> <br /> myotubes are multi-nucleated cells which are formed by the the fusion of myoblasts <br /> <br /> 2. What changes would I expect to see in the muscle fibre types in my legs if I:<br /> <br /> a) Suffered a spinal cord injury: <br /> <br /> muscle atrophy in the legs. <br /> <br /> b) Took up marathon running: <br /> <br /> some of the fast muscle fibers in the legs would change to slow fibers.<br /> <br /> <br /> ----<br /> <br /> ===Peer Review Task===<br /> <br /> '''Group 1:''' The layout is really easy to follow, everything seems to be in the right order and flow really well. i could easily follow what they had written. One thing i found especially impressive, was that they had taken the time to explain every image when you click on it. this would've taken a lot of time and effort that isn't immediately available to see, but helpful if you need to know more about the image, you just click on it. <br /> What could be improved: in one of the tables, under the heading minor signs of trisomies, pleuxs should be plexus. i didnt see any other spelling mistakes though. Also, it seems only one person has contributed most of the work, and there are three in the group. i found this to be the case for most pages.<br /> <br /> <br /> '''Group 3:''' <br /> This project is very well written, and easy to follow. i loved the disorders section, with the table, graph and pictures it made it really easy to follow, and interesting! when you see a picture like the anencephaly one, it makes you stop and read what its about! I also like how many student drawn diagrams there are, they have really put in a lot of effort. I definitely learnt a lot from reading this page.<br /> <br /> What could be improved: The ethics section has no references, also the current research section seems to be copied straight from the internet. there are also a few spelling mistakes in the ethics section - waranted=warranted, phsychological=psychological<br /> <br /> <br /> '''Group 4:'''<br /> Felicias drawings are amazing! they go into so much detail and she has clearly put in so much effort in doing them! That was the first thing i noticed when looking at the page. I actually really like the overall feel of the page, and the bigger pictures help. The first two pictures really caught my attention and made me want to read all about PUBS. I did like all the dot points, because they made it a little easier to follow, but maybe a little simplistic. <br /> <br /> Improvements: Under the sample analysis heading, they have put 'the' twice. just need to delete one. Under the disorders section, they have put that unlike PUBS, CVS and amniocentesis do test for neural tube defects. CVS doesnt test for neural tube defects, only amniocentesis. Alot of the page in not referenced. Other than that, awesome job!<br /> <br /> <br /> '''Group 5:'''<br /> I liked the fact that everything is referenced, it made me feel like they have really researched what they have put on there. The page is very informative, if not a little simplistic, but i learnt alot about fetal fibronectin. i liked the student drawn diagram!<br /> <br /> improvements: definitely extra pictures. If you cant find any that you can use, start emailing the companies, this is how i got most of our permissions, as i couldnt find any with permissions. as a last resort try wiki, all of their pictures arent copyright protected. Also, probably best to go through the criteria for the page, youve missed the history altogether. Here it is for you:<br /> project outline:<br /> <br /> 1. Intro<br /> <br /> 2. historic background<br /> <br /> 3. current associated research<br /> <br /> 4. simplified description of technique<br /> <br /> 5. student drawn figure or animation<br /> <br /> 6. reference list<br /> <br /> 7. glossary<br /> <br /> 8. external links<br /> <br /> <br /> '''Group 6:'''<br /> <br /> I like how the page is organised, its easy to follow and the layout was great. The pictures helped me with understanding the sections, although maybe they could be a bit bigger. I did learn alot about Maternal serum alpha-fetoprotein from this page, Thanks!<br /> <br /> Improvements: Under the heading MSAFP testing and the community, there is a spelling mistake. liklihood should be likelihood, and servey should be survey. The page also looks a bit like an essay, maybe for some parts you could do a few tables to make it easier to follow<br /> <br /> ----<br /> <br /> ===Lab 10 Questions===<br /> <br /> 1. Development of which endocrine organ is affected by low dietary iodine? <br /> <br /> Thyroid<br /> <br /> 2. What are the affects of this deficiency on other non-endocrine system development? <br /> <br /> leads to neurological defects (cretinism) as thyroid is needed for neural development<br /> <br /> 3. At approximately what week in development do many endocrine organs appear to begin their function?<br /> <br /> At around week 10 most endocrine organs begin secreting hormones</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3265772&diff=41411 2010-10-19T07:18:45Z

<p>Z3265772: /* Lab 10 Questions */</p> <hr /> <div>===Group 2===<br /> <br /> [[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> <br /> ==Attendance==<br /> <br /> --[[User:Z3265772|z3265772]] 23:43, 28 July 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 22:57, 4 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:14, 11 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 00:03, 19 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:06, 25 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:54, 1 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:08, 15 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:13, 22 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:18, 29 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 22:05, 6 October 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 22:25, 13 October 2010 (UTC)<br /> <br /> ==Lab Questions==<br /> <br /> ===Lab 1 Questions===<br /> <br /> Complete tasks associated with the online individual and group assessments including:<br /> <br /> 1. Demonstrate the ability to create an attendance signature.<br /> <br /> 2. Create a subheading, link and add an image to student page.<br /> <br /> learning to use page<br /> <br /> internal link [[2010_Lecture_2|Cell division]]<br /> <br /> external link [http://www.smh.com.au/ SMH]<br /> <br /> [[Fertilization|lecture 2]]<br /> <br /> picture<br /> <br /> [[File:Early_zygote.jpg|right]]<br /> <br /> ====Search Pubmed====<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed Now:''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> <br /> 3. Vote here (with student signature) for the major topic for the group project before Lab 2.<br /> <br /> ===Lab 2 Questions===<br /> <br /> 1. What factor do the synctiotrophoblast cells secrete to support the ongoing pregnancy?<br /> <br /> Syncytiotrophoblasts secrete Human Chorionic Gonadotropin (hCG) hormone, which prevents degeneration of the corpus luteum <br /> <br /> 2. What does the corpus luteum secrete to prevent continuation of the menstrual cycle?<br /> <br /> Progesterone, which helps make the endometrial lining ready for implantation if an egg is fertilized. Progesterone also changes the endometrium to a secretory lining (from proliferative), which creates an ideal environment for the blastocyst.<br /> <br /> ===Lab 3 Questions===<br /> <br /> <br /> <br /> 1. What Carnegie stages occur during week 3 and week 4?<br /> <br /> Carnegie stages 7 (gastrulation and notochord formation) to 13 (Somite no. 21-29, caudal neuropore closes)<br /> <br /> 2. What is the change in overall embryo size form the beginning of week 3 to the end of week 4?<br /> <br /> embryo has grown 2.6mm to 4.6mm. (week 4. 3mm to 5mm - week 3. 0.4mm)<br /> <br /> 3. Approximately when do the cranial (anterior) and caudal (posterior) neuropores close in the human embryo? <br /> <br /> Cranial neuropore closes at carnegie stage 11, which is 23-26 days<br /> <br /> Caudal neuropore closes at carnegie stage 12-13, which is 26-30 days<br /> <br /> ===Lab 4 Questions===<br /> <br /> 1. Name the vessels that drain into the sinus venosus?<br /> <br /> the three venous inputs that drain into the sinus venosus are the vitelline vein, umbilical vein and common cardinal vein<br /> <br /> 2. What is the fate of the vitelline artery and vitelline vein?<br /> <br /> Vitelline arteries - arises from dorsal aorta, contribute to adult GIT arteries, fuse to become superior mesenteric artery<br /> <br /> Vitelline veins - empties into sinus venosus, contribute to the adult portal system<br /> <br /> 3. Name the 4 layers that constitute the placental barrier?<br /> <br /> syncitiotrophoblast, cytotrophoblast, villi connective tissue and fetal capillary endothelium<br /> <br /> 4. What stem cells are found in abundance, and may be harvested from the placenta for therapeutic uses?<br /> <br /> hematopoietic stem cells<br /> <br /> ===Lab 5 Questions===<br /> <br /> 1. What is the origin of the gastrointestinal tract smooth muscle? <br /> <br /> Splanchnic mesoderm<br /> <br /> 2. At what Carnegie stage does the buccopharyngeal membrane begin to break down? <br /> <br /> Carnegie stage 11<br /> <br /> 3. Identify the lung developmental stage in late embryonic to early fetal period. <br /> <br /> Lung development, budding of lungs from the trachea, starts to occur in Carnegie stage 22<br /> <br /> 4. In premature infant birth, which respiratory cell type may not have fully developed?<br /> <br /> Pnuemocytes type 2 (or alveolar type 2 cells) which produce surfactant.<br /> <br /> ===Lab 7 Questions===<br /> <br /> 1. Briefly; what is a myotube and how is it formed?<br /> <br /> myotubes are multi-nucleated cells which are formed by the the fusion of myoblasts <br /> <br /> 2. What changes would I expect to see in the muscle fibre types in my legs if I:<br /> <br /> a) Suffered a spinal cord injury: <br /> <br /> muscle atrophy in the legs. <br /> <br /> b) Took up marathon running: <br /> <br /> some of the fast muscle fibers in the legs would change to slow fibers.<br /> <br /> <br /> ----<br /> <br /> ===Peer Review Task===<br /> <br /> '''Group 1:''' The layout is really easy to follow, everything seems to be in the right order and flow really well. i could easily follow what they had written. One thing i found especially impressive, was that they had taken the time to explain every image when you click on it. this would've taken a lot of time and effort that isn't immediately available to see, but helpful if you need to know more about the image, you just click on it. <br /> What could be improved: in one of the tables, under the heading minor signs of trisomies, pleuxs should be plexus. i didnt see any other spelling mistakes though. Also, it seems only one person has contributed most of the work, and there are three in the group. i found this to be the case for most pages.<br /> <br /> <br /> '''Group 3:''' <br /> This project is very well written, and easy to follow. i loved the disorders section, with the table, graph and pictures it made it really easy to follow, and interesting! when you see a picture like the anencephaly one, it makes you stop and read what its about! I also like how many student drawn diagrams there are, they have really put in a lot of effort. I definitely learnt a lot from reading this page.<br /> <br /> What could be improved: The ethics section has no references, also the current research section seems to be copied straight from the internet. there are also a few spelling mistakes in the ethics section - waranted=warranted, phsychological=psychological<br /> <br /> <br /> '''Group 4:'''<br /> Felicias drawings are amazing! they go into so much detail and she has clearly put in so much effort in doing them! That was the first thing i noticed when looking at the page. I actually really like the overall feel of the page, and the bigger pictures help. The first two pictures really caught my attention and made me want to read all about PUBS. I did like all the dot points, because they made it a little easier to follow, but maybe a little simplistic. <br /> <br /> Improvements: Under the sample analysis heading, they have put 'the' twice. just need to delete one. Under the disorders section, they have put that unlike PUBS, CVS and amniocentesis do test for neural tube defects. CVS doesnt test for neural tube defects, only amniocentesis. Alot of the page in not referenced. Other than that, awesome job!<br /> <br /> <br /> '''Group 5:'''<br /> I liked the fact that everything is referenced, it made me feel like they have really researched what they have put on there. The page is very informative, if not a little simplistic, but i learnt alot about fetal fibronectin. i liked the student drawn diagram!<br /> <br /> improvements: definitely extra pictures. If you cant find any that you can use, start emailing the companies, this is how i got most of our permissions, as i couldnt find any with permissions. as a last resort try wiki, all of their pictures arent copyright protected. Also, probably best to go through the criteria for the page, youve missed the history altogether. Here it is for you:<br /> project outline:<br /> <br /> 1. Intro<br /> <br /> 2. historic background<br /> <br /> 3. current associated research<br /> <br /> 4. simplified description of technique<br /> <br /> 5. student drawn figure or animation<br /> <br /> 6. reference list<br /> <br /> 7. glossary<br /> <br /> 8. external links<br /> <br /> <br /> '''Group 6:'''<br /> <br /> I like how the page is organised, its easy to follow and the layout was great. The pictures helped me with understanding the sections, although maybe they could be a bit bigger. I did learn alot about Maternal serum alpha-fetoprotein from this page, Thanks!<br /> <br /> Improvements: Under the heading MSAFP testing and the community, there is a spelling mistake. liklihood should be likelihood, and servey should be survey. The page also looks a bit like an essay, maybe for some parts you could do a few tables to make it easier to follow<br /> <br /> ----<br /> <br /> ===Lab 10 Questions===<br /> <br /> 1. Development of which endocrine organ is affected by low dietary iodine? <br /> <br /> 2. What are the affects of this deficiency on other non-endocrine system development? <br /> <br /> 3. At approximately what week in development do many endocrine organs appear to begin their function?<br /> <br /> At around week 10 most endocrine organs begin secreting hormones</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3265772&diff=41410 2010-10-19T07:18:16Z

<p>Z3265772: /* Lab 10 Questions */</p> <hr /> <div>===Group 2===<br /> <br /> [[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> <br /> ==Attendance==<br /> <br /> --[[User:Z3265772|z3265772]] 23:43, 28 July 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 22:57, 4 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:14, 11 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 00:03, 19 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:06, 25 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:54, 1 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:08, 15 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:13, 22 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:18, 29 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 22:05, 6 October 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 22:25, 13 October 2010 (UTC)<br /> <br /> ==Lab Questions==<br /> <br /> ===Lab 1 Questions===<br /> <br /> Complete tasks associated with the online individual and group assessments including:<br /> <br /> 1. Demonstrate the ability to create an attendance signature.<br /> <br /> 2. Create a subheading, link and add an image to student page.<br /> <br /> learning to use page<br /> <br /> internal link [[2010_Lecture_2|Cell division]]<br /> <br /> external link [http://www.smh.com.au/ SMH]<br /> <br /> [[Fertilization|lecture 2]]<br /> <br /> picture<br /> <br /> [[File:Early_zygote.jpg|right]]<br /> <br /> ====Search Pubmed====<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed Now:''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> <br /> 3. Vote here (with student signature) for the major topic for the group project before Lab 2.<br /> <br /> ===Lab 2 Questions===<br /> <br /> 1. What factor do the synctiotrophoblast cells secrete to support the ongoing pregnancy?<br /> <br /> Syncytiotrophoblasts secrete Human Chorionic Gonadotropin (hCG) hormone, which prevents degeneration of the corpus luteum <br /> <br /> 2. What does the corpus luteum secrete to prevent continuation of the menstrual cycle?<br /> <br /> Progesterone, which helps make the endometrial lining ready for implantation if an egg is fertilized. Progesterone also changes the endometrium to a secretory lining (from proliferative), which creates an ideal environment for the blastocyst.<br /> <br /> ===Lab 3 Questions===<br /> <br /> <br /> <br /> 1. What Carnegie stages occur during week 3 and week 4?<br /> <br /> Carnegie stages 7 (gastrulation and notochord formation) to 13 (Somite no. 21-29, caudal neuropore closes)<br /> <br /> 2. What is the change in overall embryo size form the beginning of week 3 to the end of week 4?<br /> <br /> embryo has grown 2.6mm to 4.6mm. (week 4. 3mm to 5mm - week 3. 0.4mm)<br /> <br /> 3. Approximately when do the cranial (anterior) and caudal (posterior) neuropores close in the human embryo? <br /> <br /> Cranial neuropore closes at carnegie stage 11, which is 23-26 days<br /> <br /> Caudal neuropore closes at carnegie stage 12-13, which is 26-30 days<br /> <br /> ===Lab 4 Questions===<br /> <br /> 1. Name the vessels that drain into the sinus venosus?<br /> <br /> the three venous inputs that drain into the sinus venosus are the vitelline vein, umbilical vein and common cardinal vein<br /> <br /> 2. What is the fate of the vitelline artery and vitelline vein?<br /> <br /> Vitelline arteries - arises from dorsal aorta, contribute to adult GIT arteries, fuse to become superior mesenteric artery<br /> <br /> Vitelline veins - empties into sinus venosus, contribute to the adult portal system<br /> <br /> 3. Name the 4 layers that constitute the placental barrier?<br /> <br /> syncitiotrophoblast, cytotrophoblast, villi connective tissue and fetal capillary endothelium<br /> <br /> 4. What stem cells are found in abundance, and may be harvested from the placenta for therapeutic uses?<br /> <br /> hematopoietic stem cells<br /> <br /> ===Lab 5 Questions===<br /> <br /> 1. What is the origin of the gastrointestinal tract smooth muscle? <br /> <br /> Splanchnic mesoderm<br /> <br /> 2. At what Carnegie stage does the buccopharyngeal membrane begin to break down? <br /> <br /> Carnegie stage 11<br /> <br /> 3. Identify the lung developmental stage in late embryonic to early fetal period. <br /> <br /> Lung development, budding of lungs from the trachea, starts to occur in Carnegie stage 22<br /> <br /> 4. In premature infant birth, which respiratory cell type may not have fully developed?<br /> <br /> Pnuemocytes type 2 (or alveolar type 2 cells) which produce surfactant.<br /> <br /> ===Lab 7 Questions===<br /> <br /> 1. Briefly; what is a myotube and how is it formed?<br /> <br /> myotubes are multi-nucleated cells which are formed by the the fusion of myoblasts <br /> <br /> 2. What changes would I expect to see in the muscle fibre types in my legs if I:<br /> <br /> a) Suffered a spinal cord injury: <br /> <br /> muscle atrophy in the legs. <br /> <br /> b) Took up marathon running: <br /> <br /> some of the fast muscle fibers in the legs would change to slow fibers.<br /> <br /> <br /> ----<br /> <br /> ===Peer Review Task===<br /> <br /> '''Group 1:''' The layout is really easy to follow, everything seems to be in the right order and flow really well. i could easily follow what they had written. One thing i found especially impressive, was that they had taken the time to explain every image when you click on it. this would've taken a lot of time and effort that isn't immediately available to see, but helpful if you need to know more about the image, you just click on it. <br /> What could be improved: in one of the tables, under the heading minor signs of trisomies, pleuxs should be plexus. i didnt see any other spelling mistakes though. Also, it seems only one person has contributed most of the work, and there are three in the group. i found this to be the case for most pages.<br /> <br /> <br /> '''Group 3:''' <br /> This project is very well written, and easy to follow. i loved the disorders section, with the table, graph and pictures it made it really easy to follow, and interesting! when you see a picture like the anencephaly one, it makes you stop and read what its about! I also like how many student drawn diagrams there are, they have really put in a lot of effort. I definitely learnt a lot from reading this page.<br /> <br /> What could be improved: The ethics section has no references, also the current research section seems to be copied straight from the internet. there are also a few spelling mistakes in the ethics section - waranted=warranted, phsychological=psychological<br /> <br /> <br /> '''Group 4:'''<br /> Felicias drawings are amazing! they go into so much detail and she has clearly put in so much effort in doing them! That was the first thing i noticed when looking at the page. I actually really like the overall feel of the page, and the bigger pictures help. The first two pictures really caught my attention and made me want to read all about PUBS. I did like all the dot points, because they made it a little easier to follow, but maybe a little simplistic. <br /> <br /> Improvements: Under the sample analysis heading, they have put 'the' twice. just need to delete one. Under the disorders section, they have put that unlike PUBS, CVS and amniocentesis do test for neural tube defects. CVS doesnt test for neural tube defects, only amniocentesis. Alot of the page in not referenced. Other than that, awesome job!<br /> <br /> <br /> '''Group 5:'''<br /> I liked the fact that everything is referenced, it made me feel like they have really researched what they have put on there. The page is very informative, if not a little simplistic, but i learnt alot about fetal fibronectin. i liked the student drawn diagram!<br /> <br /> improvements: definitely extra pictures. If you cant find any that you can use, start emailing the companies, this is how i got most of our permissions, as i couldnt find any with permissions. as a last resort try wiki, all of their pictures arent copyright protected. Also, probably best to go through the criteria for the page, youve missed the history altogether. Here it is for you:<br /> project outline:<br /> <br /> 1. Intro<br /> <br /> 2. historic background<br /> <br /> 3. current associated research<br /> <br /> 4. simplified description of technique<br /> <br /> 5. student drawn figure or animation<br /> <br /> 6. reference list<br /> <br /> 7. glossary<br /> <br /> 8. external links<br /> <br /> <br /> '''Group 6:'''<br /> <br /> I like how the page is organised, its easy to follow and the layout was great. The pictures helped me with understanding the sections, although maybe they could be a bit bigger. I did learn alot about Maternal serum alpha-fetoprotein from this page, Thanks!<br /> <br /> Improvements: Under the heading MSAFP testing and the community, there is a spelling mistake. liklihood should be likelihood, and servey should be survey. The page also looks a bit like an essay, maybe for some parts you could do a few tables to make it easier to follow<br /> <br /> ----<br /> <br /> ===Lab 10 Questions===<br /> <br /> Development of which endocrine organ is affected by low dietary iodine? <br /> <br /> What are the affects of this deficiency on other non-endocrine system development? <br /> <br /> At approximately what week in development do many endocrine organs appear to begin their function?<br /> <br /> At around week 10 most endocrine organs begin secreting hormones</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=File:Gray37.png&diff=40738 2010-10-13T22:39:16Z

<p>Z3265772: </p> <hr /> <div>Description Gray37.png<br /> Public domain <br /> This faithful reproduction of a lithograph plate from Gray's Anatomy, a two-dimensional work of art, is not copyrightable in the U.S. as per Bridgeman Art Library v. Corel Corp.; the same is also true in many other countries, including Germany. Unless stated otherwise, it is from the 20th U.S. edition of Gray's Anatomy of the Human Body, originally published in 1918 and therefore lapsed into the public domain. Other copies of Gray's Anatomy can be found on Bartleby and also on Yahoo!.<br /> Caption: Secondary chorionic villi. Diagrammatic. (Modified from Bryce.)<br /> <br /> This image is in the public domain because its copyright has expired. This applies worldwide.<br /> <br /> Gray219.png<br /> Date <br /> <br /> Commons upload by File Upload Bot (Magnus Manske) 11:46, 18 May 2006 (UTC)<br /> Source <br /> <br /> Originally from en.wikipedia; description page is (was) here<br /> <br /> * 19:32, 27 March 2004 Magnus Manske 450x371 (35,757 bytes) (From [[:en:Gray's Anatomy]]. {{msg:PD}})<br /> <br /> Author <br /> <br /> User Magnus Manske on en.wikipedia<br /> <br /> Image source: http://en.wikipedia.org/wiki/File:Gray37.png</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3265772&diff=40734 2010-10-13T22:25:52Z

<p>Z3265772: /* Attendance */</p> <hr /> <div>===Group 2===<br /> <br /> [[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> <br /> ==Attendance==<br /> <br /> --[[User:Z3265772|z3265772]] 23:43, 28 July 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 22:57, 4 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:14, 11 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 00:03, 19 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:06, 25 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:54, 1 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:08, 15 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:13, 22 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:18, 29 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 22:05, 6 October 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 22:25, 13 October 2010 (UTC)<br /> <br /> ==Lab Questions==<br /> <br /> ===Lab 1 Questions===<br /> <br /> Complete tasks associated with the online individual and group assessments including:<br /> <br /> 1. Demonstrate the ability to create an attendance signature.<br /> <br /> 2. Create a subheading, link and add an image to student page.<br /> <br /> learning to use page<br /> <br /> internal link [[2010_Lecture_2|Cell division]]<br /> <br /> external link [http://www.smh.com.au/ SMH]<br /> <br /> [[Fertilization|lecture 2]]<br /> <br /> picture<br /> <br /> [[File:Early_zygote.jpg|right]]<br /> <br /> ====Search Pubmed====<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed Now:''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> <br /> 3. Vote here (with student signature) for the major topic for the group project before Lab 2.<br /> <br /> ===Lab 2 Questions===<br /> <br /> 1. What factor do the synctiotrophoblast cells secrete to support the ongoing pregnancy?<br /> <br /> Syncytiotrophoblasts secrete Human Chorionic Gonadotropin (hCG) hormone, which prevents degeneration of the corpus luteum <br /> <br /> 2. What does the corpus luteum secrete to prevent continuation of the menstrual cycle?<br /> <br /> Progesterone, which helps make the endometrial lining ready for implantation if an egg is fertilized. Progesterone also changes the endometrium to a secretory lining (from proliferative), which creates an ideal environment for the blastocyst.<br /> <br /> ===Lab 3 Questions===<br /> <br /> <br /> <br /> 1. What Carnegie stages occur during week 3 and week 4?<br /> <br /> Carnegie stages 7 (gastrulation and notochord formation) to 13 (Somite no. 21-29, caudal neuropore closes)<br /> <br /> 2. What is the change in overall embryo size form the beginning of week 3 to the end of week 4?<br /> <br /> embryo has grown 2.6mm to 4.6mm. (week 4. 3mm to 5mm - week 3. 0.4mm)<br /> <br /> 3. Approximately when do the cranial (anterior) and caudal (posterior) neuropores close in the human embryo? <br /> <br /> Cranial neuropore closes at carnegie stage 11, which is 23-26 days<br /> <br /> Caudal neuropore closes at carnegie stage 12-13, which is 26-30 days<br /> <br /> ===Lab 4 Questions===<br /> <br /> 1. Name the vessels that drain into the sinus venosus?<br /> <br /> the three venous inputs that drain into the sinus venosus are the vitelline vein, umbilical vein and common cardinal vein<br /> <br /> 2. What is the fate of the vitelline artery and vitelline vein?<br /> <br /> Vitelline arteries - arises from dorsal aorta, contribute to adult GIT arteries, fuse to become superior mesenteric artery<br /> <br /> Vitelline veins - empties into sinus venosus, contribute to the adult portal system<br /> <br /> 3. Name the 4 layers that constitute the placental barrier?<br /> <br /> syncitiotrophoblast, cytotrophoblast, villi connective tissue and fetal capillary endothelium<br /> <br /> 4. What stem cells are found in abundance, and may be harvested from the placenta for therapeutic uses?<br /> <br /> hematopoietic stem cells<br /> <br /> ===Lab 5 Questions===<br /> <br /> 1. What is the origin of the gastrointestinal tract smooth muscle? <br /> <br /> Splanchnic mesoderm<br /> <br /> 2. At what Carnegie stage does the buccopharyngeal membrane begin to break down? <br /> <br /> Carnegie stage 11<br /> <br /> 3. Identify the lung developmental stage in late embryonic to early fetal period. <br /> <br /> Lung development, budding of lungs from the trachea, starts to occur in Carnegie stage 22<br /> <br /> 4. In premature infant birth, which respiratory cell type may not have fully developed?<br /> <br /> Pnuemocytes type 2 (or alveolar type 2 cells) which produce surfactant.<br /> <br /> ===Lab 7 Questions===<br /> <br /> 1. Briefly; what is a myotube and how is it formed?<br /> <br /> myotubes are multi-nucleated cells which are formed by the the fusion of myoblasts <br /> <br /> 2. What changes would I expect to see in the muscle fibre types in my legs if I:<br /> <br /> a) Suffered a spinal cord injury: <br /> <br /> muscle atrophy in the legs. <br /> <br /> b) Took up marathon running: <br /> <br /> some of the fast muscle fibers in the legs would change to slow fibers.<br /> <br /> <br /> ----<br /> <br /> ===Peer Review Task===<br /> <br /> '''Group 1:''' The layout is really easy to follow, everything seems to be in the right order and flow really well. i could easily follow what they had written. One thing i found especially impressive, was that they had taken the time to explain every image when you click on it. this would've taken a lot of time and effort that isn't immediately available to see, but helpful if you need to know more about the image, you just click on it. <br /> What could be improved: in one of the tables, under the heading minor signs of trisomies, pleuxs should be plexus. i didnt see any other spelling mistakes though. Also, it seems only one person has contributed most of the work, and there are three in the group. i found this to be the case for most pages.<br /> <br /> <br /> '''Group 3:''' <br /> This project is very well written, and easy to follow. i loved the disorders section, with the table, graph and pictures it made it really easy to follow, and interesting! when you see a picture like the anencephaly one, it makes you stop and read what its about! I also like how many student drawn diagrams there are, they have really put in a lot of effort. I definitely learnt a lot from reading this page.<br /> <br /> What could be improved: The ethics section has no references, also the current research section seems to be copied straight from the internet. there are also a few spelling mistakes in the ethics section - waranted=warranted, phsychological=psychological<br /> <br /> <br /> '''Group 4:'''<br /> Felicias drawings are amazing! they go into so much detail and she has clearly put in so much effort in doing them! That was the first thing i noticed when looking at the page. I actually really like the overall feel of the page, and the bigger pictures help. The first two pictures really caught my attention and made me want to read all about PUBS. I did like all the dot points, because they made it a little easier to follow, but maybe a little simplistic. <br /> <br /> Improvements: Under the sample analysis heading, they have put 'the' twice. just need to delete one. Under the disorders section, they have put that unlike PUBS, CVS and amniocentesis do test for neural tube defects. CVS doesnt test for neural tube defects, only amniocentesis. Alot of the page in not referenced. Other than that, awesome job!<br /> <br /> <br /> '''Group 5:'''<br /> I liked the fact that everything is referenced, it made me feel like they have really researched what they have put on there. The page is very informative, if not a little simplistic, but i learnt alot about fetal fibronectin. i liked the student drawn diagram!<br /> <br /> improvements: definitely extra pictures. If you cant find any that you can use, start emailing the companies, this is how i got most of our permissions, as i couldnt find any with permissions. as a last resort try wiki, all of their pictures arent copyright protected. Also, probably best to go through the criteria for the page, youve missed the history altogether. Here it is for you:<br /> project outline:<br /> <br /> 1. Intro<br /> <br /> 2. historic background<br /> <br /> 3. current associated research<br /> <br /> 4. simplified description of technique<br /> <br /> 5. student drawn figure or animation<br /> <br /> 6. reference list<br /> <br /> 7. glossary<br /> <br /> 8. external links<br /> <br /> <br /> '''Group 6:'''<br /> <br /> I like how the page is organised, its easy to follow and the layout was great. The pictures helped me with understanding the sections, although maybe they could be a bit bigger. I did learn alot about Maternal serum alpha-fetoprotein from this page, Thanks!<br /> <br /> Improvements: Under the heading MSAFP testing and the community, there is a spelling mistake. liklihood should be likelihood, and servey should be survey. The page also looks a bit like an essay, maybe for some parts you could do a few tables to make it easier to follow<br /> <br /> ----<br /> <br /> ===Lab 10 Questions===<br /> <br /> Development of which endocrine organ is affected by low dietary iodine? <br /> <br /> What are the affects of this deficiency on other non-endocrine system development? <br /> <br /> At approximately what week in development do many endocrine organs appear to begin their function?</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3265772&diff=39949 2010-10-08T09:28:00Z

<p>Z3265772: /* Peer Review Task */</p> <hr /> <div>===Group 2===<br /> <br /> [[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> <br /> ==Attendance==<br /> <br /> --[[User:Z3265772|z3265772]] 23:43, 28 July 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 22:57, 4 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:14, 11 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 00:03, 19 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:06, 25 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:54, 1 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:08, 15 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:13, 22 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:18, 29 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 22:05, 6 October 2010 (UTC)<br /> <br /> ==Lab Questions==<br /> <br /> ===Lab 1 Questions===<br /> <br /> Complete tasks associated with the online individual and group assessments including:<br /> <br /> 1. Demonstrate the ability to create an attendance signature.<br /> <br /> 2. Create a subheading, link and add an image to student page.<br /> <br /> learning to use page<br /> <br /> internal link [[2010_Lecture_2|Cell division]]<br /> <br /> external link [http://www.smh.com.au/ SMH]<br /> <br /> [[Fertilization|lecture 2]]<br /> <br /> picture<br /> <br /> [[File:Early_zygote.jpg|right]]<br /> <br /> ====Search Pubmed====<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed Now:''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> <br /> 3. Vote here (with student signature) for the major topic for the group project before Lab 2.<br /> <br /> ===Lab 2 Questions===<br /> <br /> 1. What factor do the synctiotrophoblast cells secrete to support the ongoing pregnancy?<br /> <br /> Syncytiotrophoblasts secrete Human Chorionic Gonadotropin (hCG) hormone, which prevents degeneration of the corpus luteum <br /> <br /> 2. What does the corpus luteum secrete to prevent continuation of the menstrual cycle?<br /> <br /> Progesterone, which helps make the endometrial lining ready for implantation if an egg is fertilized. Progesterone also changes the endometrium to a secretory lining (from proliferative), which creates an ideal environment for the blastocyst.<br /> <br /> ===Lab 3 Questions===<br /> <br /> <br /> <br /> 1. What Carnegie stages occur during week 3 and week 4?<br /> <br /> Carnegie stages 7 (gastrulation and notochord formation) to 13 (Somite no. 21-29, caudal neuropore closes)<br /> <br /> 2. What is the change in overall embryo size form the beginning of week 3 to the end of week 4?<br /> <br /> embryo has grown 2.6mm to 4.6mm. (week 4. 3mm to 5mm - week 3. 0.4mm)<br /> <br /> 3. Approximately when do the cranial (anterior) and caudal (posterior) neuropores close in the human embryo? <br /> <br /> Cranial neuropore closes at carnegie stage 11, which is 23-26 days<br /> <br /> Caudal neuropore closes at carnegie stage 12-13, which is 26-30 days<br /> <br /> ===Lab 4 Questions===<br /> <br /> 1. Name the vessels that drain into the sinus venosus?<br /> <br /> the three venous inputs that drain into the sinus venosus are the vitelline vein, umbilical vein and common cardinal vein<br /> <br /> 2. What is the fate of the vitelline artery and vitelline vein?<br /> <br /> Vitelline arteries - arises from dorsal aorta, contribute to adult GIT arteries, fuse to become superior mesenteric artery<br /> <br /> Vitelline veins - empties into sinus venosus, contribute to the adult portal system<br /> <br /> 3. Name the 4 layers that constitute the placental barrier?<br /> <br /> syncitiotrophoblast, cytotrophoblast, villi connective tissue and fetal capillary endothelium<br /> <br /> 4. What stem cells are found in abundance, and may be harvested from the placenta for therapeutic uses?<br /> <br /> hematopoietic stem cells<br /> <br /> ===Lab 5 Questions===<br /> <br /> 1. What is the origin of the gastrointestinal tract smooth muscle? <br /> <br /> Splanchnic mesoderm<br /> <br /> 2. At what Carnegie stage does the buccopharyngeal membrane begin to break down? <br /> <br /> Carnegie stage 11<br /> <br /> 3. Identify the lung developmental stage in late embryonic to early fetal period. <br /> <br /> Lung development, budding of lungs from the trachea, starts to occur in Carnegie stage 22<br /> <br /> 4. In premature infant birth, which respiratory cell type may not have fully developed?<br /> <br /> Pnuemocytes type 2 (or alveolar type 2 cells) which produce surfactant.<br /> <br /> ===Lab 7 Questions===<br /> <br /> 1. Briefly; what is a myotube and how is it formed?<br /> <br /> myotubes are multi-nucleated cells which are formed by the the fusion of myoblasts <br /> <br /> 2. What changes would I expect to see in the muscle fibre types in my legs if I:<br /> <br /> a) Suffered a spinal cord injury: <br /> <br /> muscle atrophy in the legs. <br /> <br /> b) Took up marathon running: <br /> <br /> some of the fast muscle fibers in the legs would change to slow fibers.<br /> <br /> <br /> ----<br /> <br /> ===Peer Review Task===<br /> <br /> '''Group 1:''' The layout is really easy to follow, everything seems to be in the right order and flow really well. i could easily follow what they had written. One thing i found especially impressive, was that they had taken the time to explain every image when you click on it. this would've taken a lot of time and effort that isn't immediately available to see, but helpful if you need to know more about the image, you just click on it. <br /> What could be improved: in one of the tables, under the heading minor signs of trisomies, pleuxs should be plexus. i didnt see any other spelling mistakes though. Also, it seems only one person has contributed most of the work, and there are three in the group. i found this to be the case for most pages.<br /> <br /> <br /> '''Group 3:''' <br /> This project is very well written, and easy to follow. i loved the disorders section, with the table, graph and pictures it made it really easy to follow, and interesting! when you see a picture like the anencephaly one, it makes you stop and read what its about! I also like how many student drawn diagrams there are, they have really put in a lot of effort. I definitely learnt a lot from reading this page.<br /> <br /> What could be improved: The ethics section has no references, also the current research section seems to be copied straight from the internet. there are also a few spelling mistakes in the ethics section - waranted=warranted, phsychological=psychological<br /> <br /> <br /> '''Group 4:'''<br /> Felicias drawings are amazing! they go into so much detail and she has clearly put in so much effort in doing them! That was the first thing i noticed when looking at the page. I actually really like the overall feel of the page, and the bigger pictures help. The first two pictures really caught my attention and made me want to read all about PUBS. I did like all the dot points, because they made it a little easier to follow, but maybe a little simplistic. <br /> <br /> Improvements: Under the sample analysis heading, they have put 'the' twice. just need to delete one. Under the disorders section, they have put that unlike PUBS, CVS and amniocentesis do test for neural tube defects. CVS doesnt test for neural tube defects, only amniocentesis. Alot of the page in not referenced. Other than that, awesome job!<br /> <br /> <br /> '''Group 5:'''<br /> I liked the fact that everything is referenced, it made me feel like they have really researched what they have put on there. The page is very informative, if not a little simplistic, but i learnt alot about fetal fibronectin. i liked the student drawn diagram!<br /> <br /> improvements: definitely extra pictures. If you cant find any that you can use, start emailing the companies, this is how i got most of our permissions, as i couldnt find any with permissions. as a last resort try wiki, all of their pictures arent copyright protected. Also, probably best to go through the criteria for the page, youve missed the history altogether. Here it is for you:<br /> project outline:<br /> <br /> 1. Intro<br /> <br /> 2. historic background<br /> <br /> 3. current associated research<br /> <br /> 4. simplified description of technique<br /> <br /> 5. student drawn figure or animation<br /> <br /> 6. reference list<br /> <br /> 7. glossary<br /> <br /> 8. external links<br /> <br /> <br /> '''Group 6:'''<br /> <br /> I like how the page is organised, its easy to follow and the layout was great. The pictures helped me with understanding the sections, although maybe they could be a bit bigger. I did learn alot about Maternal serum alpha-fetoprotein from this page, Thanks!<br /> <br /> Improvements: Under the heading MSAFP testing and the community, there is a spelling mistake. liklihood should be likelihood, and servey should be survey. The page also looks a bit like an essay, maybe for some parts you could do a few tables to make it easier to follow<br /> <br /> ----<br /> <br /> ===Lab 10 Questions===<br /> <br /> Development of which endocrine organ is affected by low dietary iodine? <br /> <br /> What are the affects of this deficiency on other non-endocrine system development? <br /> <br /> At approximately what week in development do many endocrine organs appear to begin their function?</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3265772&diff=39912 2010-10-07T03:44:13Z

<p>Z3265772: /* Peer Review Task */</p> <hr /> <div>===Group 2===<br /> <br /> [[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> <br /> ==Attendance==<br /> <br /> --[[User:Z3265772|z3265772]] 23:43, 28 July 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 22:57, 4 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:14, 11 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 00:03, 19 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:06, 25 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:54, 1 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:08, 15 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:13, 22 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:18, 29 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 22:05, 6 October 2010 (UTC)<br /> <br /> ==Lab Questions==<br /> <br /> ===Lab 1 Questions===<br /> <br /> Complete tasks associated with the online individual and group assessments including:<br /> <br /> 1. Demonstrate the ability to create an attendance signature.<br /> <br /> 2. Create a subheading, link and add an image to student page.<br /> <br /> learning to use page<br /> <br /> internal link [[2010_Lecture_2|Cell division]]<br /> <br /> external link [http://www.smh.com.au/ SMH]<br /> <br /> [[Fertilization|lecture 2]]<br /> <br /> picture<br /> <br /> [[File:Early_zygote.jpg|right]]<br /> <br /> ====Search Pubmed====<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed Now:''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> <br /> 3. Vote here (with student signature) for the major topic for the group project before Lab 2.<br /> <br /> ===Lab 2 Questions===<br /> <br /> 1. What factor do the synctiotrophoblast cells secrete to support the ongoing pregnancy?<br /> <br /> Syncytiotrophoblasts secrete Human Chorionic Gonadotropin (hCG) hormone, which prevents degeneration of the corpus luteum <br /> <br /> 2. What does the corpus luteum secrete to prevent continuation of the menstrual cycle?<br /> <br /> Progesterone, which helps make the endometrial lining ready for implantation if an egg is fertilized. Progesterone also changes the endometrium to a secretory lining (from proliferative), which creates an ideal environment for the blastocyst.<br /> <br /> ===Lab 3 Questions===<br /> <br /> <br /> <br /> 1. What Carnegie stages occur during week 3 and week 4?<br /> <br /> Carnegie stages 7 (gastrulation and notochord formation) to 13 (Somite no. 21-29, caudal neuropore closes)<br /> <br /> 2. What is the change in overall embryo size form the beginning of week 3 to the end of week 4?<br /> <br /> embryo has grown 2.6mm to 4.6mm. (week 4. 3mm to 5mm - week 3. 0.4mm)<br /> <br /> 3. Approximately when do the cranial (anterior) and caudal (posterior) neuropores close in the human embryo? <br /> <br /> Cranial neuropore closes at carnegie stage 11, which is 23-26 days<br /> <br /> Caudal neuropore closes at carnegie stage 12-13, which is 26-30 days<br /> <br /> ===Lab 4 Questions===<br /> <br /> 1. Name the vessels that drain into the sinus venosus?<br /> <br /> the three venous inputs that drain into the sinus venosus are the vitelline vein, umbilical vein and common cardinal vein<br /> <br /> 2. What is the fate of the vitelline artery and vitelline vein?<br /> <br /> Vitelline arteries - arises from dorsal aorta, contribute to adult GIT arteries, fuse to become superior mesenteric artery<br /> <br /> Vitelline veins - empties into sinus venosus, contribute to the adult portal system<br /> <br /> 3. Name the 4 layers that constitute the placental barrier?<br /> <br /> syncitiotrophoblast, cytotrophoblast, villi connective tissue and fetal capillary endothelium<br /> <br /> 4. What stem cells are found in abundance, and may be harvested from the placenta for therapeutic uses?<br /> <br /> hematopoietic stem cells<br /> <br /> ===Lab 5 Questions===<br /> <br /> 1. What is the origin of the gastrointestinal tract smooth muscle? <br /> <br /> Splanchnic mesoderm<br /> <br /> 2. At what Carnegie stage does the buccopharyngeal membrane begin to break down? <br /> <br /> Carnegie stage 11<br /> <br /> 3. Identify the lung developmental stage in late embryonic to early fetal period. <br /> <br /> Lung development, budding of lungs from the trachea, starts to occur in Carnegie stage 22<br /> <br /> 4. In premature infant birth, which respiratory cell type may not have fully developed?<br /> <br /> Pnuemocytes type 2 (or alveolar type 2 cells) which produce surfactant.<br /> <br /> ===Lab 7 Questions===<br /> <br /> 1. Briefly; what is a myotube and how is it formed?<br /> <br /> myotubes are multi-nucleated cells which are formed by the the fusion of myoblasts <br /> <br /> 2. What changes would I expect to see in the muscle fibre types in my legs if I:<br /> <br /> a) Suffered a spinal cord injury: <br /> <br /> muscle atrophy in the legs. <br /> <br /> b) Took up marathon running: <br /> <br /> some of the fast muscle fibers in the legs would change to slow fibers.<br /> <br /> ===Peer Review Task===<br /> <br /> '''Group 1:''' The layout is really easy to follow, everything seems to be in the right order and flow really well. i could easily follow what they had written. One thing i found especially impressive, was that they had taken the time to explain every image when you click on it. this would've taken a lot of time and effort that isn't immediately available to see, but helpful if you need to know more about the image, you just click on it. <br /> What could be improved: in one of the tables, under the heading minor signs of trisomies, pleuxs should be plexus. i didnt see any other spelling mistakes though. Also, it seems only one person has contributed most of the work, and there are three in the group. i found this to be the case for most pages.<br /> <br /> <br /> '''Group 3:''' <br /> This project is very well written, and easy to follow. i loved the disorders section, with the table, graph and pictures it made it really easy to follow, and interesting! when you see a picture like the anencephaly one, it makes you stop and read what its about! I also like how many student drawn diagrams there are, they have really put in a lot of effort. I definitely learnt a lot from reading this page.<br /> <br /> What could be improved: The ethics section has no references, also the current research section seems to be copied straight from the internet. there are also a few spelling mistakes in the ethics section - waranted=warranted, phsychological=psychological<br /> <br /> <br /> '''Group 4:'''<br /> Felicias drawings are amazing! they go into so much detail and she has clearly put in so much effort in doing them! That was the first thing i noticed when looking at the page. I actually really like the overall feel of the page, and the bigger pictures help. The first two pictures really caught my attention and made me want to read all about PUBS. I did like all the dot points, because they made it a little easier to follow, but maybe a little simplistic. <br /> <br /> Improvements: Under the sample analysis heading, they have put 'the' twice. just need to delete one. Under the disorders section, they have put that unlike PUBS, CVS and amniocentesis do test for neural tube defects. CVS doesnt test for neural tube defects, only amniocentesis. Alot of the page in not referenced. Other than that, awesome job!<br /> <br /> <br /> '''Group 5:'''<br /> I liked the fact that everything is referenced, it made me feel like they have really researched what they have put on there. The page is very informative, if not a little simplistic, but i learnt alot about fetal fibronectin. i liked the student drawn diagram!<br /> <br /> improvements: definitely extra pictures. If you cant find any that you can use, start emailing the companies, this is how i got most of our permissions, as i couldnt find any with permissions. as a last resort try wiki, all of their pictures arent copyright protected. Also, probably best to go through the criteria for the page, youve missed the history altogether. Here it is for you:<br /> project outline:<br /> <br /> 1. Intro<br /> <br /> 2. historic background<br /> <br /> 3. current associated research<br /> <br /> 4. simplified description of technique<br /> <br /> 5. student drawn figure or animation<br /> <br /> 6. reference list<br /> <br /> 7. glossary<br /> <br /> 8. external links<br /> <br /> <br /> '''Group 6:'''<br /> <br /> I like how the page is organised, its easy to follow and the layout was great. The pictures helped me with understanding the sections, although maybe they could be a bit bigger. I did learn alot about Maternal serum alpha-fetoprotein from this page, Thanks!<br /> <br /> Improvements: Under the heading MSAFP testing and the community, there is a spelling mistake. liklihood should be likelihood, and servey should be survey. The page also looks a bit like an essay, maybe for some parts you could do a few tables to make it easier to follow<br /> <br /> ===Lab 10 Questions===<br /> <br /> Development of which endocrine organ is affected by low dietary iodine? <br /> <br /> What are the affects of this deficiency on other non-endocrine system development? <br /> <br /> At approximately what week in development do many endocrine organs appear to begin their function?</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3265772&diff=39848 2010-10-06T22:05:07Z

<p>Z3265772: /* Attendance */</p> <hr /> <div>===Group 2===<br /> <br /> [[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> <br /> ==Attendance==<br /> <br /> --[[User:Z3265772|z3265772]] 23:43, 28 July 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 22:57, 4 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:14, 11 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 00:03, 19 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:06, 25 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:54, 1 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:08, 15 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:13, 22 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:18, 29 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 22:05, 6 October 2010 (UTC)<br /> <br /> ==Lab Questions==<br /> <br /> ===Lab 1 Questions===<br /> <br /> Complete tasks associated with the online individual and group assessments including:<br /> <br /> 1. Demonstrate the ability to create an attendance signature.<br /> <br /> 2. Create a subheading, link and add an image to student page.<br /> <br /> learning to use page<br /> <br /> internal link [[2010_Lecture_2|Cell division]]<br /> <br /> external link [http://www.smh.com.au/ SMH]<br /> <br /> [[Fertilization|lecture 2]]<br /> <br /> picture<br /> <br /> [[File:Early_zygote.jpg|right]]<br /> <br /> ====Search Pubmed====<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed Now:''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> <br /> 3. Vote here (with student signature) for the major topic for the group project before Lab 2.<br /> <br /> ===Lab 2 Questions===<br /> <br /> 1. What factor do the synctiotrophoblast cells secrete to support the ongoing pregnancy?<br /> <br /> Syncytiotrophoblasts secrete Human Chorionic Gonadotropin (hCG) hormone, which prevents degeneration of the corpus luteum <br /> <br /> 2. What does the corpus luteum secrete to prevent continuation of the menstrual cycle?<br /> <br /> Progesterone, which helps make the endometrial lining ready for implantation if an egg is fertilized. Progesterone also changes the endometrium to a secretory lining (from proliferative), which creates an ideal environment for the blastocyst.<br /> <br /> ===Lab 3 Questions===<br /> <br /> <br /> <br /> 1. What Carnegie stages occur during week 3 and week 4?<br /> <br /> Carnegie stages 7 (gastrulation and notochord formation) to 13 (Somite no. 21-29, caudal neuropore closes)<br /> <br /> 2. What is the change in overall embryo size form the beginning of week 3 to the end of week 4?<br /> <br /> embryo has grown 2.6mm to 4.6mm. (week 4. 3mm to 5mm - week 3. 0.4mm)<br /> <br /> 3. Approximately when do the cranial (anterior) and caudal (posterior) neuropores close in the human embryo? <br /> <br /> Cranial neuropore closes at carnegie stage 11, which is 23-26 days<br /> <br /> Caudal neuropore closes at carnegie stage 12-13, which is 26-30 days<br /> <br /> ===Lab 4 Questions===<br /> <br /> 1. Name the vessels that drain into the sinus venosus?<br /> <br /> the three venous inputs that drain into the sinus venosus are the vitelline vein, umbilical vein and common cardinal vein<br /> <br /> 2. What is the fate of the vitelline artery and vitelline vein?<br /> <br /> Vitelline arteries - arises from dorsal aorta, contribute to adult GIT arteries, fuse to become superior mesenteric artery<br /> <br /> Vitelline veins - empties into sinus venosus, contribute to the adult portal system<br /> <br /> 3. Name the 4 layers that constitute the placental barrier?<br /> <br /> syncitiotrophoblast, cytotrophoblast, villi connective tissue and fetal capillary endothelium<br /> <br /> 4. What stem cells are found in abundance, and may be harvested from the placenta for therapeutic uses?<br /> <br /> hematopoietic stem cells<br /> <br /> ===Lab 5 Questions===<br /> <br /> 1. What is the origin of the gastrointestinal tract smooth muscle? <br /> <br /> Splanchnic mesoderm<br /> <br /> 2. At what Carnegie stage does the buccopharyngeal membrane begin to break down? <br /> <br /> Carnegie stage 11<br /> <br /> 3. Identify the lung developmental stage in late embryonic to early fetal period. <br /> <br /> Lung development, budding of lungs from the trachea, starts to occur in Carnegie stage 22<br /> <br /> 4. In premature infant birth, which respiratory cell type may not have fully developed?<br /> <br /> Pnuemocytes type 2 (or alveolar type 2 cells) which produce surfactant.<br /> <br /> ===Lab 7 Questions===<br /> <br /> 1. Briefly; what is a myotube and how is it formed?<br /> <br /> myotubes are multi-nucleated cells which are formed by the the fusion of myoblasts <br /> <br /> 2. What changes would I expect to see in the muscle fibre types in my legs if I:<br /> <br /> a) Suffered a spinal cord injury: <br /> <br /> muscle atrophy in the legs. <br /> <br /> b) Took up marathon running: <br /> <br /> some of the fast muscle fibers in the legs would change to slow fibers.<br /> <br /> ===Peer Review Task===<br /> <br /> '''Group 1:''' The layout is really easy to follow, everything seems to be in the right order and flow really well. i could easily follow what they had written. One thing i found especially impressive, was that they had taken the time to explain every image when you click on it. this would've taken a lot of time and effort that isn't immediately available to see, but helpful if you need to know more about the image, you just click on it. <br /> What could be improved: in one of the tables, under the heading minor signs of trisomies, pleuxs should be plexus. i didnt see any other spelling mistakes though. Also, it seems only one person has contributed most of the work, and there are three in the group. i found this to be the case for most pages.<br /> <br /> <br /> '''Group 3:''' <br /> This project is very well written, and easy to follow. i loved the disorders section, with the table, graph and pictures it made it really easy to follow, and interesting! when you see a picture like the anencephaly one, it makes you stop and read what its about! I also like how many student drawn diagrams there are, they have really put in a lot of effort. I definitely learnt a lot from reading this page.<br /> <br /> What could be improved: The ethics section has no references, also the current research section seems to be copied straight from the internet. there are also a few spelling mistakes in the ethics section - waranted=warranted, phsychological=psychological<br /> <br /> <br /> '''Group 4:'''<br /> Felicias drawings are amazing! they go into so much detail and she has clearly put in so much effort in doing them! That was the first thing i noticed when looking at the page. I actually really like the overall feel of the page, and the bigger pictures help. The first two pictures really caught my attention and made me want to read all about PUBS. I did like all the dot points, because they made it a little easier to follow, but maybe a little simplistic. <br /> <br /> Improvements: Under the sample analysis heading, they have put 'the' twice. just need to delete one. Under the disorders section, they have put that unlike PUBS, CVS and amniocentesis do test for neural tube defects. CVS doesnt test for neural tube defects, only amniocentesis. Alot of the page in not referenced. Other than that, awesome job!<br /> <br /> <br /> '''Group 5:'''<br /> I liked the fact that everything is referenced, it made me feel like they have really researched what they have put on there. The page is very informative, if not a little simplistic, but i learnt alot about fetal fibronectin. i liked the student drawn diagram!<br /> <br /> improvements: definitely extra pictures. If you cant find any that you can use, start emailing the companies, this is how i got most of our permissions, as i couldnt find any with permissions. as a last resort try wiki, all of their pictures arent copyright protected. Also, probably best to go through the criteria for the page, youve missed the history altogether. Here it is for you:<br /> project outline:<br /> <br /> 1. Intro<br /> <br /> 2. historic background<br /> <br /> 3. current associated research<br /> <br /> 4. simplified description of technique<br /> <br /> 5. student drawn figure or animation<br /> <br /> 6. reference list<br /> <br /> 7. glossary<br /> <br /> 8. external links<br /> <br /> <br /> '''Group 6:'''<br /> <br /> I like how the page is organised, its easy to follow and the layout was great. The pictures helped me with understanding the sections, although maybe they could be a bit bigger. I did learn alot about Maternal serum alpha-fetoprotein from this page, Thanks!<br /> <br /> Improvements: Under the heading MSAFP testing and the community, there is a spelling mistake. liklihood should be likelihood, and servey should be survey. The page also looks a bit like an essay, maybe for some parts you could do a few tables to make it easier to follow</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=2010_Group_Project_2&diff=39647 2010-10-06T06:20:54Z

<p>Z3265772: /* Abnormalities found by CVS prenatal diagnostic technique */</p> <hr /> <div>[[File:Embryo_11-14_weeks.jpg|right|400 px]]<br /> <br /> ='''Chorionic Villus Sampling (CVS)'''=<br /> <br /> =Introduction=<br /> <br /> [[Image:Gray31.png|thumb|350px|right|Grays]]<br /> <br /> <br /> Chorionic villus sampling or CVS is a type of prenatal diagnosis test performed in the first trimester to detect major fetal abnormalities such as down syndrome, cystic fibrosis and tay-sachs disease, among many others. In the procedure, tissue is withdrawn from small finger like projections on the placenta called chorionic villi and tested for chromosomal defects. It is commonly performed between 10 and 12 weeks of pregnancy. <br /> The advantage of CVS over other procedures is that the result is available approx 6 weeks earlier in the pregnancy, so if a termination is needed, it can be done earlier which is much safer, rather than later in the pregnancy, which can carry more risks. &lt;ref&gt;Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., de, l.C., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Lubs, H.A., Mahoney, M.J., Pergament, E., Simpson, J.L., Carpenter, R.J., Elias, S., Ginsberg, N.A., Goldberg, J.D., Hobbins, J.C., Lynch, L., Shiono, P.H., Wapner, R.J. &amp; Zachary, J.M. 1989, &quot;The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities&quot;, New England Journal of Medicine, vol. 320, no. 10, pp. 609-617.&lt;/ref&gt;<br /> <br /> ''Reasons for getting chorionic villus sampling can include:''<br /> <br /> -History of genetic disorders in the family<br /> <br /> -Parents have already had a child with a disorder such as down syndrome or cystic fibrosis<br /> <br /> -Abnormal ultrasound result<br /> <br /> -Maternal age of 35 or older, which increases the risk of chromosomal defects such as down syndrome<br /> <br /> <br /> =Historic background=<br /> <br /> <br /> '''Brief timeline of CVS use'''<br /> <br /> *1968 - Mohr in Scandinavia introduced the concept of prenatal diagnosis using chorionic villi sampling &lt;ref&gt;&lt;pubmed&gt;5691288&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1973 - Kullander and Sandahl and Hahnemann in 1974 showed further study into chromosomal analysis from CVS &lt;ref&gt;&lt;pubmed&gt;4766093&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1975 - from the Department of Obstetrics and Gynaecology at the Tietung Hospital in Anshan, China was successful in using CVS to determine sex of fetuses for sex pre selection. &lt;ref&gt;&lt;pubmed&gt;811431&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1980 - Kazy et al. were the first to use ultrasound guidance during chorionic villi sampling. &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1981 - Niazi et al. improved methods for culturing of fibroblasts from trophoblast villi. &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1983 - Ward performed transcervical CVS with 67% success rate. In the same year, the Brombati group demonstrated and 96% success rate with obtaining villi with the aid of ultrasound guidance &lt;ref&gt;&lt;pubmed&gt;6463023&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1984 - Smidt-Jensen and Hahnemann introduced transabdominal CVS under ultrasound guidance &lt;ref&gt;&lt;pubmed&gt;4088973&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1986 - The Golbus group had a 3.8% miscarriage rate, and subsequently many other clinics started reporting a much lower rate of miscarriage at 1.7% making the procedure safe for routine use &lt;ref&gt;&lt;pubmed&gt;3717235&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> ===Jan Mohr (1921-2009)===<br /> [[Image:Jan_Mohr.jpg|thumb|200px|left|Jan Mohr]]<br /> <br /> <br /> '''1968 -- Concept of CVS introduced'''<br /> <br /> In 1968 Jan Mohr introduced the concept of prenatal diagnosis using the CVS technique. &lt;ref&gt;&lt;pubmed&gt;5691288&lt;/pubmed&gt;&lt;/ref&gt; He used the transcervical method to get a biopsy of the chorion using an endoscope as the source of vision. The current technique differs by using mostly transabdominal access with ultrasound instead of an endoscope. He reported a 96% success rate in obtaining chorionic material but with a high incidence of bleeding and infection. The approach was abandoned as amniocentesis became more popular due to higher safety levels<br /> <br /> <br /> <br /> '''1973-1975 -- Further study into chromosomal analysis from CVS'''<br /> <br /> Kullander and Sandahl in 1973 and Hahnemann in 1974 further researched fetal chromosome analysis using transcervical biopsy before termination in early pregnancies. &lt;ref&gt;&lt;pubmed&gt;4766093&lt;/pubmed&gt;&lt;/ref&gt; In 1975 the first successful diagnostic use of chorionic villi was reported at the Tietung Hospital in China. &lt;ref&gt;&lt;pubmed&gt;811431&lt;/pubmed&gt;&lt;/ref&gt; This is where fetal sex was diagnosed for the purpose of sex pre-selection. They claimed to have 94% diagnosis success and only 4% miscarriage rate. Researchers in the United States were, however unable to duplicate the results and so the idea of CVS diagnosis was again abandoned for some time.<br /> <br /> <br /> '''1980-1983 -- Change from endoscopic examination to ultrasound to guide CVS'''<br /> <br /> With the invention of the ultrasound and advancement in molecular genetics, an earlier prenatal diagnosis was now sought after. So Kazy et al. in 1980, began using both the endoscope and the ultrasound for fetal sexing on chorion biopsies. This was the first report of using ultrasound guidance during chorion sampling. After Kazy et.al. began using the ultrasound for guidance, many others followed. Niazi et al., Ward and the Brombati group all started using ultrasound guided CVS. Techniques quickly improved and success rate of obtaining chorionic material rose from 75% to 96% &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> '''1984-1986 -- The introduction of transabdominal CVS'''<br /> <br /> In 1984, Smidt-Jensen and Hahnemann in Copenhagen introduced transabdominal CVS using ultrasound guidance. &lt;ref&gt;&lt;pubmed&gt;6463023&lt;/pubmed&gt;&lt;/ref&gt; With less chance of infective complications the procedure has become more popular than the transcervical method in many prenatal diagnostic centers. Other ultrasonic techniques and modifications were explored by the Brambati and Simoni group and the Golbus group in 1985. &lt;ref&gt;&lt;pubmed&gt;4088973&lt;/pubmed&gt;&lt;/ref&gt; The Golbus group reported in 1986 a miscarriage rate of 3.8%. &lt;ref&gt;&lt;pubmed&gt;3717235&lt;/pubmed&gt;&lt;/ref&gt; Subsequently, many other centres reported a much lower miscarriage rate of 1.5% which made the procedure safe for routine use.<br /> <br /> ==Table Comparing Prenatal Diagnosis Techniques==<br /> <br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ This table shows invasiveness and timeframe for some prenatal diagnostic techniques<br /> ! Invasiveness !! Diagnostic technique !! Comments !! Time that procedure can be performed !! Diagram<br /> |-<br /> |Non Invasive<br /> |[[2010_Group_Project_1|Ultrasound]]<br /> |'''Tests for:''' neural tube defects, chromosomal abnormalities and congenital heart abnormalities<br /> <br /> '''Risks:''' No risks currently indicated for ultrasound use in prenatal diagnosis. <br /> <br /> This test uses high frequency sound waves through a transmitting device, which construct a picture of the fetus when the waves are reflected and received back by the transmitter. Due to no known risks, ultrasound use is used routinely in pregnancies and is the first port of call for prenatal diagnosis. If a potential abnormality is found or the parents are high risk, then a more invasive diagnostic technique may be recommended. The type of diagnostic technique used depends on the potential abnormality found. &lt;ref&gt;Kremkali, F.W. (2006) Diagnostic Ultrasound Principles and Instruments (7th ed.) St Louis: Saunders Elsevier. pp3-5&lt;/ref&gt;[[2010_Group_Project_1|More about Ultrasound]]<br /> |Weeks 18-20<br /> |[[File:ZConvex_Array_Transducer.jpg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> |'''Tests for:''' chromosomal abnormalities and genetic abnormalities <br /> <br /> '''Risks:''' Miscarriage (1%), some of the side effects include dizziness, abdominal discomfort, cramping, haemorrhage, infection, ruptured amniotic sac, increased risk of limb defects if the test was performed at nine weeks’ gestation or earlier &lt;ref&gt;Alfirevic, Z., K. Sundberg, et al. 2008. &quot;Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review).&quot; Cochrane Database of Systematic Reviews 4: 1-134.&lt;/ref&gt;<br /> <br /> With the guidance of Ultrasound, a needle is inserted in to the abdomen or through the cervix and a small sample of chorionic villi from the placenta are obtained. This sample is sent to a cytogenetics laboratory where the cells are cultured and stained, and photographed to view chromosomes <br /> |Weeks 10-12<br /> |[[File:Transabdominal_CVS.jpg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_3|Amniocentesis ]] <br /> |'''Tests for:''' chromosomal abnormalities, fetal infections, and genetic abnormalities<br /> <br /> '''Risks:''' Miscarriage &lt;1%, stillbirths 3%, and small risk of infection. &lt;ref&gt;&lt;pubmed&gt;PMC2464303&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> A needle is inserted in to the uterus where a sample of the amniotic fluid surrounding the fetus is taken. This procedure is usually done with the guidance of ultrasound so the physician can see where the needle is being inserted. The amniotic fluid is analysed for abnormalities. [[2010_Group_Project_3|More about Amniocentesis ]]<br /> |Weeks 15-16<br /> |[[File:Process_of_amniocentesis.jpeg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_4|Percutaneous Umbilical Cord Blood Sampling]]<br /> |'''Tests for:'''chromosomal abnormalities, blood disorders, some metabolic disorders, fetal infections, and some causes of structural problems.<br /> <br /> '''Risks:'''Miscarriage &lt;2%, Preterm labour, fetal bradycardia, bleeding of the umbilical cord. &lt;ref&gt;&lt;pubmed&gt;16530195&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> A small needle is inserted in to the abdomen of the mother and a sample of blood is taken from the umbilical vein in the umbilical cord. This technique is often used when other diagnostic techniques are inconclusive, but should be used with caution as carries higher risk rates. The benefit of Percutaneous Umbilical Cord Blood Sampling is that the results are available much faster, within 72 hours of testing. CVS and amniocentesis tests need culturing and therefore take up to 11 days for a result. [[2010_Group_Project_4|More about Percutaneous Umbilical Cord Blood Sampling]]<br /> |Weeks 18-22<br /> |[[File:Placenta_Anterior.jpg|right|150 px]]<br /> |-<br /> |Less Invasive<br /> |[[2010_Group_Project_5|Fetal Fibronectin]]<br /> |'''Tests for:'''determines the likelihood of premature birth in women of high risk<br /> <br /> '''Risks:'''No known risks for the testing of Fetal Fibronectin, as is it less invasive than other techniques.<br /> <br /> Fetal Fibronectin is only found in the uterus until the onset of labour when is secretes in through the cervix. In this procedure, a sample of the cervico-vaginal secretions are taken and sent to the lab for testing. If the test comes out positive for Fetal Fibronectin in the vagina, the mother has a chance of going into premature labour. [[2010_Group_Project_5|More about Fetal Fibronectin]]<br /> |Weeks 24-34<br /> |[[File:FetalFN.jpg|right|150 px]]<br /> |-<br /> |Non Invasive<br /> |[[2010_Group_Project_6|Maternal serum alpha-fetoprotein]]<br /> |'''Tests for:'''AFP is a type of screening test and do not diagnose problems, but signal whether further testing is needed. Normal AFP levels are increased in Neural Tube Defects and Omphalocoele &amp; decreased in Down Syndrome.<br /> <br /> '''Risks:'''No known risks as Maternal serum alpha-fetoprotein is non invasive<br /> <br /> A blood sample is taken from the mother and alpha-fetoprotein levels are measured in the lab. These measurements can determine the risk level of certain abnormalities in the fetus. The advantage is that it is non invasive, but the disadvantage is that it has a very high false positive rate, so many mothers have gone on to have amniocentesis or chorionic villus sampling to find nothing is wrong with the baby. This can be overcome by having another alpha-fetoprotein test before getting amniocentesis or chorionic villus sampling. [[2010_Group_Project_6|More about Maternal serum alpha-fetoprotein]]<br /> |Weeks 15-20<br /> |[[File:Enzyme_immunoassay.jpg|right|150 px]]<br /> |-<br /> |}<br /> <br /> =Description of technique=<br /> [[File:Gray37.png|right|thumb|280px|Sample is taken from the chorionic villi]]<br /> [[File:transabdominal_CVS.jpg|right|thumb|280px|Transabdominal Technique]]<br /> [[File:transcervicalCVS.jpg|right|thumb|280px|Transcervical Technique]]<br /> <br /> The CVS procedure involves taking a sample of the chorion frondosum — the part of the chorionic membrane containing the villi. Between 10-12 weeks of pregnancy, the developing gestational sac is composed of a thick, outer chorionic membrane surrounding the amniotic cavity, a thin amniotic membrane and the chorionic cavity. The chorionic villi have now degenerated over most of the outer membrane, forming the chorion laeve, and the remaining villi fuses and embeds loosely into the decidua basalis. This forms the chorion frondosum, which will ultimately become the placenta. At this stage, the villi float freely in the blood of the intervillus space. Each villi is branched, and is composed of an outer syncytiotrophoblast and an inner cytotrophoblast layer. Within the centre of each villus is a mesenchymal core which contain capillaries carrying fetal blood. In CVS, usually samples of both cells lines (cytotrophoblasts and mesenchymal cells) are obtained. Chromosomal analysis of these cell lines can be performed by means of direct preparations, short-term cultures (cytotrophoblasts), or long-term cultures (mesenchymal cells) of the chorionic villi.&lt;ref&gt;Jenkins, T.M, Wapner, R.J, 1999. First trimester prenatal diagnosis: Chorionic villus sampling. Seminars in Perinatology. pp403-413.&lt;/ref&gt; <br /> <br /> CVS can be performed in two ways, through the cervix (transcervical) or through the abdomen (transabdominal). Both techniques are equally safe when performed by an experienced technician, however miscarriage rates are somewhat higher when done through the cervix. Prior to the procedure, an abdominal ultrasound can be performed to locate the position of the uterus, and the placenta. A full bladder is not required. Depending on the type of method performed, the vulva, vagina, cervix or abdomen are cleaned with antiseptic. The procedure normally takes only 1-2 minutes to perform and the patient is able to leave the clinic within the hour after the fetus is checked.&lt;ref&gt;Melbourne Ultrasound for Women. Chorionic Villus Sampling. Accessed 5 September 2010. http://www.nevdgp.org.au/info/melb_us/cvs_melb.htm&lt;/ref&gt; <br /> <br /> ===Transabdominal Procedure===<br /> <br /> # A local anaesthetic is first applied to the abdomen.&lt;br&gt;<br /> # A thin hollow needle is then inserted through the abdomen into the uterus and into the edge of the placenta where the chorion is located. An ultrasound transducer is commonly used to guide the needle during the procedure. &lt;br&gt;<br /> # A finer syringe needle is then passed through the outer needle, and the tissue is then drawn.&lt;br&gt;<br /> # The sample is taken to the laboratory for testing. <br /> <br /> ===Transcervical Procedure===<br /> # A speculum is inserted in the vagina and the area is cleaned with antiseptic.&lt;br&gt;<br /> # With the help of ultrasound imaging, a thin cannula is then inserted through the cervix and uterus and into the placenta.&lt;br&gt;<br /> #The tissue sample is then taken up through the cannula.&lt;br&gt;<br /> &lt;ref&gt;&lt;pubmed&gt;20154617&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> After the sample is taken to the laboratory, the cells are grown until there are enough cells for chromosome testing. The results normally take up to 2 weeks to complete.<br /> <br /> ===Complications===<br /> <br /> Some of the side effects and complications after a CVS procedure can include:<br /> <br /> * Dizziness <br /> * Abdominal discomfort<br /> * Cramping<br /> * Haemorrhage<br /> * Infection<br /> * Ruptured amniotic sac<br /> * Increased risk of limb defects if the test was performed at nine weeks’ gestation or earlier<br /> * Premature delivery<br /> &lt;ref&gt;Alfirevic, Z., K. Sundberg, et al. 2008. &quot;Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review).&quot; Cochrane Database of Systematic Reviews 4: 1-134.&lt;/ref&gt;<br /> <br /> Additional complications can involve technical errors such as failure of the specimen to grow sufficiently in the laboratory and uncertain laboratory results. If this occurs, amniocentesis is still an option after 15 weeks.<br /> <br /> ===Results and Accuracy===<br /> <br /> The accuracy of CVS to detect chromosome abnormalities is quite high, at around 98-99% &lt;ref&gt;Hall, Judith G. &quot;Chromosomal Clinical Abnormalities.&quot; In Nelson Textbook of Pediatrics. Edited by Richard E. Behrman et al. Philadelphia: Saunders, 2004.&lt;/ref&gt;. Although it has a high accuracy rate to diagnose most major chromosomal problems, CVS does have some limitations. Having a negative result for an abnormality does not rule out ALL genetic defects the baby may have. Comparatively to amniocentesis, CVS does NOT detect neural tube defects such as spina bifida, or anencephaly. <br /> The type of chromosome abnormalities detected by CVS will be further discussed in detail below.<br /> <br /> ===Limitations===<br /> [[file:Double_tetrasomy_18_mosaicism.jpg‎|thumb|250 px|Example of a child with double tetrasomy 18+ mosaicism.]]<br /> <br /> '''Maternal contamination'''<br /> <br /> Since the villus sample also involves maternal cells, there is a possibility that they may take over the laboratory culture instead, consequently leading to the mother's cells being tested instead of the fetus's cells. The risk of this happening is low however and is decreased when the sample contains an adequate amount of fetal cells.<br /> <br /> <br /> '''Mosaicism'''<br /> <br /> &quot;Mosaicism&quot; occurs when both abnormal and normal cells are found in the chorionic villi. Mosaicism can involve both the fetus (true fetal mosaicism) and the placental tissues or the placental tissues alone. When this happens, cells that multiply from these abnormal cells may develop a chromosome anomaly.<br /> What can result is that in certain body organs the fetus has a combination of cells that are abnormal and normal in genetic structure. <br /> The rate of the placental type occuring is found in 1-2% of pregnancies detected by CVS.&lt;ref&gt;&lt;pubmed&gt;9316125&lt;/pubmed&gt;&lt;/ref&gt; When mosaicism is detected by CVS, the limitation lies in the inability to conclude that the baby itself and not just the placental tissues will share the mosaicism. Even if the baby is affected, it will be unclear as to what percentage of the fetal cells and the type of organs that will be affected.&lt;ref&gt;Trofatter. K.F. 2008. Chromosomal Mosaicism Detected at the Time of Chorionic Villus Sampling. Accessed on 15 September 2010. http://www.healthline.com/blogs/pregnancy_childbirth/2008/03/chromosomal-mosaicism-detected-at-time.html&lt;/ref&gt;<br /> <br /> =Risks=<br /> <br /> <br /> When Chorionic Villus Sampling is performed, a small sample of the placenta is removed for analysis. The placenta contains fetal material, therefore can reveal genetic defects which may lead to problems or abnormalities. &lt;ref&gt;&lt;pubmed&gt;20664398&lt;/pubmed&gt;&lt;/ref&gt; This prenatal test can be performed as early as 11 weeks into the pregnancy, this is earlier than many prenatal diagnosis tests, which is why many parents choose CVS as they can have solid information earlier in the pregnancy. Some common risks which are not under current research include: Cramping, light blood spotting, pain, fever and chills, leakage (which can be a major concern as it can lower amniotic fluid to a dangerous level for the infant), and potential for missing fingers and toes in the newborn. For this reason, the procedure is only recommended for women who are at least 11 weeks pregnant. &lt;ref&gt;&lt;pubmed&gt;20051662&lt;/pubmed&gt;&lt;/ref&gt; The other major risks that are currently being researched are outlined below<br /> <br /> ====Transabdominal vs Transcervical CVS. Comparison of risks====<br /> <br /> <br /> [[File:CVS_Table.jpg|left|thumb|280px|Transabdominal vs Transcervical risks]]<br /> <br /> This table shows the symptoms of women approximately 3 days after sampling. Women who had transcervical sampling had higher occurrence of fluid leakage and spotting. When a tenaculum is not used, the occurrence of vaginal spotting and bleeding continued. &lt;ref&gt;Jackson, L.G., Zachary, J.M., Fowler, S.E., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Mahoney, M.J., Pergament, E., Simpson, J.L., Black, S. &amp; Wapner, R.J. 1992, &quot;A Randomized Comparison of Transcervical and Transabdominal Chorionic-Villus Sampling&quot;, New England Journal of Medicine, vol. 327, no. 9, pp. 594-598.&lt;/ref&gt;<br /> <br /> ====Miscarriage====<br /> <br /> One of the biggest risks of Chorionic Villus Sampling is miscarriage. In one to 100 or 200 cases, the procedure is linked with miscarriage. &lt;ref&gt;&lt;pubmed&gt;19155918&lt;/pubmed&gt;&lt;/ref&gt; In an experienced clinic, this rate may go down to one in 300 to 400. To lower the risk of miscarriage with Chorionic Villus Sampling, it is recommended the procedure be performed by an experienced clinician<br /> <br /> <br /> ====Oligohydramnios====<br /> <br /> Oligohydramnios is a condition due to low amniotic fluid level, which is caused by amniotic fluid leakage. Amniotic fluid leakage is typically caused by fetal urinary tract abnormalities such as Potter's syndrome, polycystic kidneys, or genitourinary obstruction. But leakage can sometimes be caused by sampling of the chorionic villi due to insertion of the needle. If the resulting oligohydramnios is not treated and the amniotic fluid continues to leak it can result in the baby developing hypoplastic lungs (underdeveloped lungs). &lt;ref&gt;&lt;pubmed&gt;17694578&lt;/pubmed&gt;&lt;/ref&gt;&lt;br&gt;&lt;br&gt;<br /> <br /> <br /> <br /> <br /> <br /> <br /> '''Why would you use CVS over other techniques?'''<br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ Advantages and Disadvantages of Chorionic Villus Sampling<br /> ! Advantages !! Disadvantages <br /> |-<br /> |Can be performed earlier in pregnancy than amniocentesis (at around ten weeks).<br /> <br /> Results are available faster<br /> <br /> Cells obtained are mitotically active<br /> <br /> Amount of tissue obtained is preferable for DNA analysis.<br /> <br /> It is almost 100% reliable in detecting chromosomal and genetic defects.<br /> |It carries a slightly higher risk of miscarriage (1%-2%) than does amniocentesis<br /> <br /> It's less commonly available than amniocentesis, and fewer doctors are experienced in the procedure.<br /> <br /> It entails a greater risk of distorted results than does amniocentesis due to presence of mother's cells in the sample and discrepancies between chorionic villi and fetal genes.<br /> <br /> Metabolic disorders are difficult to diagnose and must be confirmed with amniocentesis.<br /> <br /> Because of the early gestational age at which the test is performed, fetal anatomy cannot be seen as well as it can at the time amniocentesis is performed.<br /> |-<br /> |}<br /> &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt;<br /> <br /> =Abnormalities found by CVS prenatal diagnostic technique=<br /> <br /> [[File:Down-normal.gif|right|thumb|280px|Normal]]<br /> <br /> [[File:Down-extra.gif|right|thumb|280px|third copy of chromosome 21]]<br /> <br /> The cells collected by CVS are sent to a cytogenetics laboratory, which is a laboratory that analyses the number and shape of the chromosomes in cells. At the laboratory the cells are cultured (stimulated to grow and divide) for approximately 12 days. After enough cells are cultured, a banded karyotype is completed. This is where the fetal chromosomes in the cultured cells are stained and then photographed. The photographed chromosomes are then ordered, counted and checked for abnormalities.&lt;ref&gt;Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., de, l.C., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Lubs, H.A., Mahoney, M.J., Pergament, E., Simpson, J.L., Carpenter, R.J., Elias, S., Ginsberg, N.A., Goldberg, J.D., Hobbins, J.C., Lynch, L., Shiono, P.H., Wapner, R.J. &amp; Zachary, J.M. 1989, &quot;The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities&quot;, New England Journal of Medicine, vol. 320, no. 10, pp. 609-617. &lt;/ref&gt;<br /> <br /> <br /> <br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ This table shows what disorders CVS detects, the cause, frequency and any comments<br /> ! Disorder !! Cause !! Comments !! Frequency !! Picture <br /> |-<br /> |[[ Trisomy 21 | Down Syndrome ]]<br /> |A third copy of chromosome 21<br /> <br /> Normally, there are only two copies of this chromosome<br /> |The average IQ of children with Down syndrome is around 50, compared to normal children with an IQ of 100. Complications for people with down syndrome include: congenital heart defects, gastroesophageal reflux disease, recurrent ear infections, obstructive sleep apnea, and thyroid dysfunctions. &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt; The picture shows a newborn infant with Down Syndrome (Trisome 21)<br /> |Approximately 1 in 1,000 births &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt;<br /> |[[File:Trisomy_21_newborn.jpg|right|200 px]]<br /> |-<br /> |[[ Trisomy 13 | Trisomy 13 ]]<br /> |A third copy of chromosome 13<br /> <br /> Normally, there are only two copies of this chromosome<br /> |Also called Patau syndrome. This abnormality causes mental and motor abnormalities, polydactyly (extra digits), kidney defects, abnormal genitalia and heart defects, among many others. &lt;ref&gt;Driscoll, D.A. &amp; Gross, S. 2009, &quot;Prenatal Screening for Aneuploidy&quot;, New England Journal of Medicine, vol. 360, no. 24, pp. 2556-2562. &lt;/ref&gt; The picture shows an infant with polydactyly, a potential complication of Trisome 13<br /> |Less than 1% <br /> |[[File:220px-Patauhand.PNG|right|200 px]]<br /> |-<br /> |[[ Trisomy 18 | Trisomy 18 ]]<br /> |A third copy of chromosome 18<br /> <br /> Normally, there are only two copies of this chromosome<br /> |Also known as Edwards syndrome. It has a very low survival rate, due to: kidney and heart defects, intestines protruding outside the body, mental abnormalities, growth disorders, feeding and breathing difficulties. &lt;ref&gt;Driscoll, D.A. &amp; Gross, S. 2009, &quot;Prenatal Screening for Aneuploidy&quot;, New England Journal of Medicine, vol. 360, no. 24, pp. 2556-2562. &lt;/ref&gt; The picture shows a clenched hand and overlapping fingers: index finger overlaps third finger and fifth finger overlaps fourth finger, characteristically seen in Trisomy 18.<br /> |1 in 3,000 conceptions and approximately 1 in 6,000 live births <br /> |[[File:200px-Overlapping_fingers.JPG|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Cystic_fibrosis Cystic Fibrosis]<br /> |A mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR) in chromosome 7.<br /> |An autosomal recessive disease that causes excessive sticky mucous to form on mucosal surfaces effecting the digestive and respiratory organs. &lt;ref&gt;Levison, J.H., Barbieri, R.L., Katz, J.T. &amp; Loscalzo, J. 2010, &quot;Hard to Conceive&quot;, New England Journal of Medicine, vol. 363, no. 10, pp. 965-970. &lt;/ref&gt; The picture shows clubbing of the fingers in a person with cystic fibrosis<br /> |Approx 1 in 3,000 <br /> |[[File:220px-ClubbingCF.JPG|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Hemoglobinopathy Hemoglobinopathy]<br /> |Structural abnormalities in the globin proteins <br /> |Multiple types of abnormal haemoglobins exist including Haemoglobin S, C E and D that alter the structure of these proteins. A common defect is sickle cell disease.&lt;ref&gt;Abboud, M.R. 2009, &quot;Hematopoietic Stem-Cell Transplantation for Adults with Sickle Cell Disease&quot;, New England Journal of Medicine, vol. 361, no. 24, pp. 2380-2381. &lt;/ref&gt;<br /> |Hemoglobinopathies are a genetic defect and therefore an inherited disorder, frequency depends on which particular hemoglobinopathy is being discussed, eg. in the case of Sickle cell disease, it is estimated that 7% of worlds population are carriers<br /> |[[File:Series_10-09.jpg|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease Tay Sachs Disease]<br /> |mutations on chromosome 15 in the HEXA gene <br /> |It is a rare autosomal recessive defect inherited from parents that are carriers for the disease. Affected individuals suffer from premature nerve cells death in the brain. &lt;ref&gt;&lt;pubmed&gt;20100466&lt;/pubmed&gt;&lt;/ref&gt;<br /> |Approx 1 in 300 are carriers<br /> |[[File:220px-Autorecessive.svg.png|right|200 px]]<br /> |-<br /> |}<br /> <br /> =Outcomes=<br /> <br /> Since CVS is able to detect a variety of chromosome abnormalities, there is a chance that the baby may be affected with a defect. If the test results are normal however, this does not exclude other congenital defects and neural tube defects that can occur that can be detected by other prenatal diagnosis methods. IF the test result is positive and a defect is detected by CVS, the mother has several options available. One is to terminate the pregnancy and the other is to seek treatment after the baby is born. If the mother chooses to terminate the pregnancy, doctors have a responsibility to educate the mother and offer counseling.<br /> <br /> Doctors should:<br /> <br /> *Give parents information about the defect so that they can be prepared.<br /> *Talk to parents about the baby's predicted quality of life.<br /> *Should explain any procedures that will be done to the baby after he is born.<br /> *Doctors should do their best to tell parents what the problem is and how serious it is.<br /> <br /> Abortion is the termination of pregnancy, with the removal of the fetus and placenta from the uterus. In Australia, abortion laws vary by state and usually allow this up to a range of about 12 - 20 weeks into the pregnancy, on the grounds of fetal abnormalities, endangerment of the mother and other socio-economic factors.&lt;ref&gt;Cica. N., 1998. Abortion Law in Australia. Parliament of Australia, Parliamentary Library. Accessed September 29. 2010. &lt;http://www.aph.gov.au/library/pubs/rp/1998-99/99rp01.htm&gt;&lt;/ref&gt; If the mother chooses to terminate the pregnancy, counselling is usually done to make sure the parents understand the issues and ethics surrounding abortion.<br /> There are currently two ways to perform an abortion:<br /> <br /> '''Surgical abortion -''' Also called suction aspiration, or suction currette, this is the most common procedure used for first trimester abortion(up to 12 weeks) The cervix is dilated, and a tube is inserted through the cervix and a suction removes the fetus and the placenta. A curette is then used to scrape the wall of the uterus to ensure any remains are not left inside. If later in pregnancy, other surgical techniques are used. <br /> <br /> '''Medical abortion -''' ''(Note: Not applicable in this case due to CVS being performed at 10-12 weeks.)''This involves administration of a drug called mifepristone (RU486). Available for abortions earlier than 2-9 weeks, it is a low-risk and effective method instead of the surgical method earlier in pregnancy. Usage of the drug is available in many countries but is currently restricted in Australia.<br /> <br /> ===Treatment===<br /> <br /> If the mother decides to continue on with the pregnancy, treatment options are necessary for the baby after birth to maintain the health and symptoms associated with a defect. Some of these management options for some of the defects will be discussed below. <br /> <br /> '''Down Syndrome'''<br /> <br /> Treatment and therapies for Down syndrome available include the physical, medical and cognitive problems associated with Down Syndrome. Medical treatment such as surgery or medications, while early intervention programs and therapies help babies and children achieve better quality of life. For example, children with Down Syndrome have a higher risk for having many conditions such as congenital heart defects, problems with the thyroid, muscles, joint, vision and hearing problems. Medications can be used to treat these different problems, such as if the thyroid is affected, a child will benefit from taking thyroid replacement hormones. Medications aim to control the symptoms and reduce the impact the condition will have on the baby. There is no medication that can cure chromosome abnormalities. Some individuals affected with cardiac and gastrointestinal problems may also need surgery soon after birth. Regular screening for vision problems, hearing, hypothyroidism, and other medical conditions should be performed.<br /> <br /> Cognitive development can be assisted with physiotherapy and speech therapy for example. Since children with Down Syndrome can have speech problems due to their relatively small mouths and large tongue, speech therapy can help the child to communicate properly. Physical therapy is often needed since individuals with Down Syndrome have hypotonia (low muscle tone)which needs to be improved by developing motor skills.<br /> <br /> '''Trisomy 13'''<br /> <br /> Since Trisomy 13 causes a range of serious complications like congenital heart disease and brain and spinal cord abnormalities, the survival rate is low, with a median survival time of 2.5 days. &lt;ref&gt;&lt;pubmed&gt;11310997&lt;/pubmed&gt;&lt;/ref&gt; Treatment is usually directed towards the specific symptoms that are present in the affected child, which differs to each individual. In some cases, treatment may include surgical procedures to correct cleft lip and palate, or surgery to correct heart defects. This will depend upon the severity and nature of the abnormalities and symptoms.&lt;Ref&gt;Stewart, K. B., 2007. Trisomy 13 - Patau Syndrome. [Fact sheet] Centre for Genetics Education. Accessed 29 September, 2010. &lt;http://www.genetics.com.au/pdf/factsheets/fs29.pdf&gt;&lt;/ref&gt;<br /> <br /> '''Cystic fibrosis'''<br /> <br /> There is currently no cure for cystic fibrosis, but various treatment methods can manage the symptoms of lung and digestive problems, liver and gallbladder diseases and infertility. Digestive problems can be corrected by having a diet that is low in fat and high in protein, with vitamin supplements. Regular antibiotics are prescribed to prevent and to treat lung infections, and mucolytics are needed to make the mucous less sticky. Other methods to dislodge and remove mucous is manual chest physiotherapy, where it consists of bronchial drainage done manually or mechanically. Manual drainage can be done by performing controlled breathing techniques or the chest is vibrated or clapped to dislodge the mucous out of the airways. &lt;ref&gt;&lt;pubmed&gt;18079549&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> '''Tay-sachs disease'''<br /> <br /> The prognosis for babies with the condition is usually poor, with children living to the age of 4-5.&lt;ref&gt;National Institute of Neurological Disorders and Stroke. 2007. Tay-Sachs Disease Information Page. Accessed September 29, 2010. &lt;http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm&gt;&lt;/ref&gt; Therefore treatment for Tay-sachs disease is usually to help alleviate symptoms associated with the disease. Spasticity and siezures can be helped by administering anticonvulsants, while other supportive methods include respiratory care to keep the airway open and proper nutrition and hydration.<br /> <br /> =Ethical concerns=<br /> <br /> =Current associated research=<br /> <br /> Chorionic Villus Sampling (CVS) is one of many prenatal diagnostic tools for expectant mothers, it is popular since it can be used to identify potential problems with a fetus at a very early stage. However, the procedure does carry some risks, as does any invasive diagnostic procedure. As chorionic villus sampling is a relatively new technique, made available for safe routine use only 20 years ago, the current associated research is mainly associated with risks associated with the procedure, and ways to overcome these risks. The next section in this page will discuss the current research on CVS and the risks involved in the procedure, and not what the test results may find. <br /> <br /> ====Hypertensive disorders of pregnancy====<br /> <br /> Hypertension, or high blood pressure, is a condition where systemic arterial blood presssure is elevated. Hypertension is one of the most common medical problem during pregnancy, affecting about 2-3% of pregnancies.&lt;ref&gt;Gibson, P., Carson, M.P, 2010. Hypertension and Pregnancy. Accessed 29 September, 2010. &lt;http://emedicine.medscape.com/article/261435-overview&gt;&lt;/ref&gt;<br /> Pregnancy induced hypertension is a condition that can occur during and after the 20th week of pregnancy. The types of hypertensive disorders can include:<br /> <br /> [[File:Enamel_Hypoplasia_Due_to_Maternal_Toxemia.jpg|thumb|200px|right|Enamel hypoplasia due to maternal toxemia]]<br /> <br /> *Pre-eclampsia or toxemia – Characterised as high blood pressure above 140/90 with proteinuria (protein in the urine that is above 300mg)<br /> * Eclampsia - Developed in a pregnant woman who has had pre-eclampsia and is characterised by seizures <br /> * Gestational hypertension – arterial hypertension that occurs after the 20th week of gestation <br /> <br /> If untreated, the condition may develop into HELLP syndrome which is a serious complication noted by hemolytic aneamia, elevated liver enzymes and a low platelet count. <br /> <br /> <br /> There has been conflicting evidence in literature that suggests that CVS is associated with hypertensive disorders in pregnancy such as pre-clampsia and gestational hypertension. In several studies, such as data from the National Institute of Health that compared late CVS procedures with early amniocentesis, showed a higher rite of gestational hypertension and preeclampsia in pregnant mothers.&lt;ref&gt;&lt;pubmed&gt;15738029&lt;/pubmed&gt;&lt;/ref&gt; (5.4% for mothers who had CVS and 3.5% that had amniocentesis.) It was hypothesized that disruption and disturbance of the placenta at 13-14 weeks may increase the risk of maternal hypertension. In addition, another recent study in 2006 also reported that there was an increase in the rate of pre-clampsia in first-time expectant mothers who have had CVS.&lt;ref&gt;&lt;pubmed&gt;19455602&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> However, in a very recent data investigation of among 9098 women that were pregnant between 1990 and 2006, the overall incidence of hypertensive disorders with women who have had CVS was 2.7% compared to the control group that did not have the procedure done which was 7.1%.&lt;ref&gt;&lt;pubmed&gt;19918960&lt;/pubmed&gt;&lt;/ref&gt; Similarly, in a study conducted by The American College of Obstetricians and Gynecologists,&lt;ref&gt;&lt;pubmed&gt;20664398&lt;/pubmed&gt;&lt;/ref&gt; 31, 138 women were that were included in the investigation showed that 2.2% developed preeclampsia and 2.8% developed gestation hypertension. Only 7.8% of those individuals had previously had CVS procedure performed. <br /> <br /> Although it can be said that some woman may develop hypertensive disorders during pregnancy that have also had the CVS procedure done in the past, there is no conclusive evidence so far that definitively associates CVS with hypertensive disorders such as pre-clampsia and gestation hypertension.<br /> <br /> ====Malformations====<br /> [[File:Craniosynostosis_.jpg|right|250 px]]<br /> <br /> <br /> Many malformations were thought to be a result of more invasive prenatal diagnostic techniques such as chorionic villus sampling. These malformations include, but are not limited to, cardiac malformations, hypospadias, craniosynostosis, pyloric stenosis, inguinal hernia, polydactyly, syndactyly, hydrocephalus and cleft lip and palate. Although these studies have now confirmed no known relationship with CVS, we will mention some below. &lt;ref&gt;&lt;pubmed&gt;7937577&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> '''Craniosynostosis''' is a condition where one of the sutures of the skull prematurely fuses, this causes the other sutures to compensate in growth for the fused suture. In normal development of the skull, the sutures allow for brain growth, so if one suture fuses prematurely, the brain can not grow normally, and the other sutures over expand in compensation. In the shown image, pictures a1 and a2 show the normal development and fusing of the infant skull. b2 shows how a suture is prematurely fused and b1 shows how the abnormality shows in an infant child.<br /> Craniosyntosis may result in increased pressure on the brain and developmental delays. Treatment of craniosynostosis usually consists of surgery to the skull where a zigzag incision is made to make the hair look more natural than the scar left by a straight incision. The surgery separates the sutures that have joined together to allow the head to develop normally.<br /> <br /> &lt;ref&gt;Silver, R.K., Macgregor, S.N., Muhlbach, L.H., Knutel, T.A. &amp; Kambich, M.P. 1994, &quot;Congenital malformations subsequent to chorionic villus sampling: Outcome analysis of 1048 consecutive procedures&quot;, Prenatal diagnosis, vol. 14, no. 6, pp. 421-427. &lt;/ref&gt;<br /> <br /> [[File:Polydactyly.jpg|left|200 px]]<br /> '''Polydactyly''' is a congenital condition where an extra digit is formed. Mostly it occurs on only one hand or foot, but sometimes can occur on all limbs. The extra digit is mostly a small non-function appendage of skin, less often it is an extension of the adjacent digit, and rarely it is a fully functioning finger that arises from the wrist or ankle joint like the other digits. Polydactyly can be described as: <br /> <br /> ● postaxial polydactyly (arising from the little finger)<br /> <br /> ● preaxial polydactyly (arising from the thumb) or<br /> <br /> ● central polydactyly (arising from anywhere between the other digits)<br /> <br /> Polydactyly is seen in 1 in every 500 births, but the extra digit is usually surgically removed shortly after birth<br /> &lt;ref&gt;&lt;pubmed&gt;20661588&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> [[File:Syndactyly2.JPG|left|200 px]]<br /> '''Syndactyly''' is also a congenital condition, but is seen when digits are fused together. Syndactyly can be described as:<br /> <br /> ● simple syndactyly (where only skin is fused to the adjacent finger)<br /> <br /> ● complex syndactyly (where the bone is fused together)<br /> <br /> ● incomplete syndactyly (where fusion is only part of the way up the digit), and,<br /> <br /> ● complete syndactyly (where fusion is to the tip of the digit)<br /> <br /> The picture on the left shows an example of polysyndactyly, where the digits are both fused, and there is an extra digit.<br /> &lt;ref&gt;&lt;pubmed&gt;20811188&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> <br /> <br /> <br /> <br /> ====Hemangiomas====<br /> <br /> [[File:Capillary_haemangioma.jpg|thumb|200px|right|Hemangioma]]<br /> <br /> A hemangioma is a benign tumour growth of endothelial cells that can occur in newborns and infants. Hemangiomas can occur anywhere in the body but are often localised on the skin of the face and neck, and are characterised by a red to reddish purple raised lesion on the skin, similarly to a &quot;strawberry&quot; like appearance. Its red appearance is due to the newly formed blood vessels, which result from the malformation of angioblastic tissues of fetal life.&lt;ref&gt;&lt;pubmed&gt;7063565&lt;/pubmed&gt;&lt;/ref&gt; <br /> Most hemangiomas do not cause any serious complications, and regress later on in life, where 90% of hemangiomas in children would disappear by the age of 9. <br /> <br /> Recently, research has linked the increase in the incidence of hemangiomas in infants following CVS. It has been postulated that the mechanism of hemangioma formation is associated with the embolisation of angioblasts or endothelial cells from the placenta to the fetal skin.&lt;ref&gt;&lt;pubmed&gt;19218861&lt;/pubmed&gt;&lt;/ref&gt; Although this may link hemangiomas to placental origin, it is unclear how, or whether CVS directly interferes or enhances the formation of these lesions. However, a recent study that compared the effects of CVS and amniocentesis on the prevalence of hemangiomas in infants showed that 27% of the study group had hemangiomas with CVS compared to 9.4% in children with hemangiomas and amniocentesis. &lt;ref&gt;&lt;pubmed&gt;20824891&lt;/pubmed&gt;&lt;/ref&gt; Furthermore, in an previous study conducted in 1995, there was a threefold increase in incidence after trancervical procedure was done, compared to amniocentesis.&lt;ref&gt;Lo, K., Mihm, M. &amp; Fay, A. 2009, &quot;Current Theories on the Pathogenesis of Infantile Hemangioma&quot;, Seminars in ophthalmology, vol. 24, no. 3, pp. 172-177. &lt;/ref&gt;&lt;ref&gt;&lt;pubmed&gt;7784377&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> =Future of Chorionic Villus Sampling and Prenatal diagnosis techniques=<br /> <br /> [[File:FISH_(technique).gif‎|thumb|250 px|FISH technique]]<br /> <br /> [[File:Comparative_Genomics.jpg|thumb|250 px|Comparative Genomics]]<br /> <br /> Prenatal diagnosis has been used to detect chromosomal abnormalities, especially Down’s syndrome, for over 30 years. As we have discussed on this page, the most common forms of prenatal diagnosis are amniocentesis, CVS and ultrasound. The type of test used depends on the history of the parents, any abnormalities detected in the initial ultrasound examination, and preferences of the parents. Testing for chromosomal abnormalities using amniocentesis and CVS is invasive and somewhat time consuming. Some recent advancements in this field include the use of fluorescence in situ hybridisation (FISH), quantitative fluorescence-PCR techniques, and comparative genomics. Although these techniques are currently still invasive, the waiting time for these tests is usually only 1 to 2 days for chromosomal abnormalities. &lt;ref&gt;&lt;pubmed&gt;20014413&lt;/pubmed&gt;&lt;/ref&gt; This waiting time would mean a much less stressful waiting period for the parents. The future of prenatal diagnosis certainly lies in the field of non invasive techniques, and research in the field of prenatal diagnosis is looking toward making detection of abnormalities non invasive, using the fetal cells from maternal circulation. &lt;ref&gt;&lt;pubmed&gt;20014413&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> '''Fluorescence in situ hybridisation (FISH):''' FISH is a cytogenetic technique, involving analysing the number and shape of the chromosomes of cells. FISH detects the addition or deletion of specific DNA sequences on chromosomes using florescent probes that bind to a similar sequence of chromosomes. Once the florescence probes are attached, fluorescence microscopy is used to view the chromosomes and detect the abnormality. In prenatal diagnosis, FISH is useful for detecting trisomy and monosomy conditions.[http://en.wikipedia.org/wiki/Fluorescent_in_situ_hybridization More about FISH]<br /> <br /> <br /> '''Comparative genomics:''' Comparative Genomics is a very new research field where the genome sequence of different organisms are compared. This comparison between organisms shows where a species genomes have been conserved (stabilising selection) and where differences occur (positive selection). Many species share the same genes, and comparative genomics can show what species share genes and which genes are different among species. This information can help us understand the function of different genes and identify and control diseases. The purpose is to gain a better understanding of how species have evolved and to determine the function of genes. In prenatal diagnosis, fetal cells can be viewed and compared against both parents genome, any change that deviates from the normal pattern due to too much or too little DNA can be seen, this deviation of the normal pattern means a certain chromosome has either been copied or deleted, causing disease. [http://www.ornl.gov/sci/techresources/Human_Genome/faq/compgen.shtml More about Comparative Genomics]<br /> <br /> =Useful links=<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Wikipedia'''[http://en.wikipedia.org/wiki/Chorionic_villus_sampling Chorionic villus sampling]<br /> <br /> '''Fact sheets''' [http://www.thewomens.org.au/ChorionicVillusSamplingCVS Chorionic villus sampling]<br /> <br /> '''Images''' [http://www.google.com.au/images?q=chorionic+villus+sampling&amp;oe=utf-8&amp;rls=org.mozilla:en-US:official&amp;client=firefox-a&amp;um=1&amp;ie=UTF-8&amp;source=univ&amp;ei=yCWcTKT-NsircY-nzNEJ&amp;sa=X&amp;oi=image_result_group&amp;ct=title&amp;resnum=4&amp;ved=0CD4QsAQwAw&amp;biw=1280&amp;bih=615 Chorionic villus sampling]<br /> <br /> '''You tube video of procedure''' [http://www.youtube.com/watch?v=0XUZsvTkEnw Chorionic villus sampling]<br /> <br /> =Glossary=<br /> <br /> '''Amniocentesis''' - A prenatal diagnostic test involving sampling of amniotic fluid by needle aspiration for genetic analysis.<br /> <br /> '''Amnion''' - An extraembryonic membrane ectoderm and extraembryonic mesoderm in origin and forms the innermost fetal membrane, produces amniotic fluid. This fluid-filled sac initially lies above the trilaminar embryo disc and with embryoic disc folding this sac is drawn ventrally to enclose (cover) the entire embryo, then fetus.<br /> <br /> '''Amniotic cavity''' - The fluid-filled (amniotic fluid) extraembryonic coelom (cavity) formed initially by epiblast and then ectoderm and surrounding extraembryonic mesoderm. In humans, it forms the innermost fetal membrane, produces amniotic fluid expanding to fuse with the chorionic membrane during week 8 of development.<br /> <br /> '''Amniotic fluid''' - The fluid that fills amniotic cavity totally encloses and cushions the embryo.<br /> <br /> '''Cannula''' - A flexible medical tube with a sharp-pointed part at one end that is inserted into a duct, vein, or cavity in order to drain away fluid or to administer drugs<br /> <br /> '''Chorion''' - The extraembryonic membrane generated from trophoblast and extraembryonic mesoderm that forms placenta. chorion and amnion are made by the somatopleure. The chorion becomes incorporated into placental development. The avian and reptilian chorion lies beside the egg shell and allows gas exchange.<br /> <br /> '''Chorionic villus sampling (CVS)''' - The taking a biopsy of the placenta, usually at the end of the second month of pregnancy, to test the fetus for genetic abnormalities.<br /> <br /> '''Chromosome''' - double stranded DNA coiled around histones. Condenses during mitosis and meiosis.<br /> <br /> '''Ectoderm''' - One of the initial 3 germ cell layers, which will form the nervous system from the neural tube and neural crest and also generates the entire epithelial layer of the skin covering the embryo.<br /> <br /> '''Endoscope''' - a long slender medical instrument for examining the interior of a bodily organ or performing minor surgery<br /> <br /> '''Endoderm''' - One of the initial 3 germ cell layers (ectoderm, mesoderm and endoderm) formed by the process of gastrulation. The endoderm forms as a cuboidal epithelium and contributes not only to the trilaminar embryo, but also lines the yolk sac. It will form the entire epithelial lining of the gastrointestinal tract (GIT), contribute to the accessory organs of GIT and also forms the epithelial lining of the respiratory tract.<br /> <br /> '''Fetus''' - In mammals, term describes the period of development following the embryonic period. In humans, the development week 9 to 36 is the fetal stage (second and third trimester). (see fetal period above). This term is also used non-scientifically to describe the human conceptus at both embryonic and fetal stages of development.<br /> <br /> '''Gene''' - A DNA sequence that is transcribed as a single unit and encodes a single polypeptide (protein) or a set of closely related polypeptides. There are approximately 20,000-25,000 protein encoding genes in the human genome. In each cell, DNA is found within the nucleus and also within mitochondria.<br /> <br /> '''Gestation''' - The period of time from conception to birth. A pregnancy with multiple fetuses is referred to as a multiple gestation.<br /> <br /> '''Mesoderm''' - The middle layer of the 3 germ cell layers of the trilaminar embryo.<br /> <br /> '''Miscarriage''' - A general clinical term for the loss of embryo or fetus by spontaneous abortion.<br /> <br /> '''Mitosis''' - The normal division of all cells, except germ cells, where chromosome number is maintained (diploid). <br /> <br /> '''Prenatal diagnosis''' - any of the diagnostic procedures used to determine whether a fetus has a genetic abnormality<br /> <br /> '''Tenaculum''' - instrument used to grasp the cervix and keep the uterus in place during gynecological procedures.<br /> <br /> '''Termination''' - The spontaneous or artificially induced expulsion of an embryo or fetus. As used in legal context, the term usually refers to induced abortion.<br /> <br /> '''Transabdominal''' - In the transabdominal CVS technique, the physician inserts a needle through the abdomen into the placenta. This is also done with ultrasound, to guide the physician<br /> <br /> '''Transcervical''' - In the transcervical CVS technique, the physician inserts a small tube through the cervix into the placenta. This is done while ultrasound guides the physician<br /> <br /> '''Ultrasound''' - A non-invasive technique for visualizing and prenatal diagnosis of several features of development including: follicles in the ovaries, the gestational sac, fetus in the uterus, fetal parameters, and the placenta. The technique uses high-frequency sound waves that are reflected off internal structures. These reflections can then be analysed and displayed by computer.<br /> <br /> '''Villi''' - Plural of villus, which is a thin projection from a surface. A term used to describe the many functional units together of the fetal placenta. <br /> <br /> '''Vitelline arteries and veins''' - The blood vessels which form in the extraembryonic mesoderm of the yolk sac and anastomose are called vitelline arteries (flow away from the embryo) and vitelline veins (flow toward the embryo).<br /> <br /> ==Prenatal Diagnosis Terms==<br /> <br /> '''false negative rate''' - The proportion of pregnancies that will test negative given that the congenital anomaly is present.<br /> <br /> '''false positive rate''' - The proportion of pregnancies that will test positive given that the congenital anomaly is absent.<br /> <br /> '''negative predictive value''' - The probability that a congenital anomaly is absent given that the prenatal screening test is negative.<br /> <br /> '''positive predictive value''' - The probability that a congenital anomaly is present given that the prenatal screening test is positive.<br /> <br /> '''pre-implantation genetic diagnosis''' - (PGD) a screening procedure for embryos produced through in vitro fertilisation (IVF) for genetic diseases that would generate developmental abnormalities or serious postnatal diseases.<br /> <br /> '''prenatal screening sensitivity''' - (detection rate) The probability of testing positive on a prenatal screening test if the congenital anomaly is present.<br /> <br /> '''prenatal screening specificity''' - The probability of testing negative on a prenatal screening test if the congenital anomaly is absent.<br /> <br /> <br /> ==Glossary Links==<br /> <br /> :[[A|A]] | [[B|B]] | [[C|C]] | [[D|D]] | [[E|E]] | [[F|F]] | [[G|G]] | [[H|H]] | [[I|I]] | [[J|J]] | [[K|K]] | [[L|L]] | [[M|M]] | [[N|N]] | [[O|O]] | [[P|P]] | [[Q|Q]] | [[R|R]] | [[S|S]] | [[T|T]] | [[U|U]] | [[V|V]] | [[W|W]] | [[X|X]] | [[Y|Y]] | [[Z|Z]] | [[Numbers|Numbers]]<br /> <br /> =References=<br /> &lt;references/&gt;<br /> <br /> == 2010 ANAT2341 Group Projects ==<br /> <br /> [[2010_Group_Project_1|Project 1 - Ultrasound]] | [[2010_Group_Project_2|Project 2 - Chorionic villus sampling]] | [[2010_Group_Project_3|Project 3 - Amniocentesis]] | [[2010_Group_Project_4|Group Project 4 - Percutaneous Umbilical Cord Blood Sampling]] | [[2010_Group_Project_5|Project 5 - Fetal Fibronectin]] | [[2010_Group_Project_6|Project 6 - Maternal serum alpha-fetoprotein]] | [[ANAT2341_2010_Students|Students Page]]<br /> <br /> <br /> {{Template:Footer}}<br /> [[Category:2010ANAT2341]] [[Category:Science-Undergraduate]]</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=2010_Group_Project_2&diff=39645 2010-10-06T06:13:30Z

<p>Z3265772: /* Oligohydramnios */</p> <hr /> <div>[[File:Embryo_11-14_weeks.jpg|right|400 px]]<br /> <br /> ='''Chorionic Villus Sampling (CVS)'''=<br /> <br /> =Introduction=<br /> <br /> [[Image:Gray31.png|thumb|350px|right|Grays]]<br /> <br /> <br /> Chorionic villus sampling or CVS is a type of prenatal diagnosis test performed in the first trimester to detect major fetal abnormalities such as down syndrome, cystic fibrosis and tay-sachs disease, among many others. In the procedure, tissue is withdrawn from small finger like projections on the placenta called chorionic villi and tested for chromosomal defects. It is commonly performed between 10 and 12 weeks of pregnancy. <br /> The advantage of CVS over other procedures is that the result is available approx 6 weeks earlier in the pregnancy, so if a termination is needed, it can be done earlier which is much safer, rather than later in the pregnancy, which can carry more risks. &lt;ref&gt;Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., de, l.C., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Lubs, H.A., Mahoney, M.J., Pergament, E., Simpson, J.L., Carpenter, R.J., Elias, S., Ginsberg, N.A., Goldberg, J.D., Hobbins, J.C., Lynch, L., Shiono, P.H., Wapner, R.J. &amp; Zachary, J.M. 1989, &quot;The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities&quot;, New England Journal of Medicine, vol. 320, no. 10, pp. 609-617.&lt;/ref&gt;<br /> <br /> ''Reasons for getting chorionic villus sampling can include:''<br /> <br /> -History of genetic disorders in the family<br /> <br /> -Parents have already had a child with a disorder such as down syndrome or cystic fibrosis<br /> <br /> -Abnormal ultrasound result<br /> <br /> -Maternal age of 35 or older, which increases the risk of chromosomal defects such as down syndrome<br /> <br /> <br /> =Historic background=<br /> <br /> <br /> '''Brief timeline of CVS use'''<br /> <br /> *1968 - Mohr in Scandinavia introduced the concept of prenatal diagnosis using chorionic villi sampling &lt;ref&gt;&lt;pubmed&gt;5691288&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1973 - Kullander and Sandahl and Hahnemann in 1974 showed further study into chromosomal analysis from CVS &lt;ref&gt;&lt;pubmed&gt;4766093&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1975 - from the Department of Obstetrics and Gynaecology at the Tietung Hospital in Anshan, China was successful in using CVS to determine sex of fetuses for sex pre selection. &lt;ref&gt;&lt;pubmed&gt;811431&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1980 - Kazy et al. were the first to use ultrasound guidance during chorionic villi sampling. &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1981 - Niazi et al. improved methods for culturing of fibroblasts from trophoblast villi. &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1983 - Ward performed transcervical CVS with 67% success rate. In the same year, the Brombati group demonstrated and 96% success rate with obtaining villi with the aid of ultrasound guidance &lt;ref&gt;&lt;pubmed&gt;6463023&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1984 - Smidt-Jensen and Hahnemann introduced transabdominal CVS under ultrasound guidance &lt;ref&gt;&lt;pubmed&gt;4088973&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1986 - The Golbus group had a 3.8% miscarriage rate, and subsequently many other clinics started reporting a much lower rate of miscarriage at 1.7% making the procedure safe for routine use &lt;ref&gt;&lt;pubmed&gt;3717235&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> ===Jan Mohr (1921-2009)===<br /> [[Image:Jan_Mohr.jpg|thumb|200px|left|Jan Mohr]]<br /> <br /> <br /> '''1968 -- Concept of CVS introduced'''<br /> <br /> In 1968 Jan Mohr introduced the concept of prenatal diagnosis using the CVS technique. &lt;ref&gt;&lt;pubmed&gt;5691288&lt;/pubmed&gt;&lt;/ref&gt; He used the transcervical method to get a biopsy of the chorion using an endoscope as the source of vision. The current technique differs by using mostly transabdominal access with ultrasound instead of an endoscope. He reported a 96% success rate in obtaining chorionic material but with a high incidence of bleeding and infection. The approach was abandoned as amniocentesis became more popular due to higher safety levels<br /> <br /> <br /> <br /> '''1973-1975 -- Further study into chromosomal analysis from CVS'''<br /> <br /> Kullander and Sandahl in 1973 and Hahnemann in 1974 further researched fetal chromosome analysis using transcervical biopsy before termination in early pregnancies. &lt;ref&gt;&lt;pubmed&gt;4766093&lt;/pubmed&gt;&lt;/ref&gt; In 1975 the first successful diagnostic use of chorionic villi was reported at the Tietung Hospital in China. &lt;ref&gt;&lt;pubmed&gt;811431&lt;/pubmed&gt;&lt;/ref&gt; This is where fetal sex was diagnosed for the purpose of sex pre-selection. They claimed to have 94% diagnosis success and only 4% miscarriage rate. Researchers in the United States were, however unable to duplicate the results and so the idea of CVS diagnosis was again abandoned for some time.<br /> <br /> <br /> '''1980-1983 -- Change from endoscopic examination to ultrasound to guide CVS'''<br /> <br /> With the invention of the ultrasound and advancement in molecular genetics, an earlier prenatal diagnosis was now sought after. So Kazy et al. in 1980, began using both the endoscope and the ultrasound for fetal sexing on chorion biopsies. This was the first report of using ultrasound guidance during chorion sampling. After Kazy et.al. began using the ultrasound for guidance, many others followed. Niazi et al., Ward and the Brombati group all started using ultrasound guided CVS. Techniques quickly improved and success rate of obtaining chorionic material rose from 75% to 96% &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> '''1984-1986 -- The introduction of transabdominal CVS'''<br /> <br /> In 1984, Smidt-Jensen and Hahnemann in Copenhagen introduced transabdominal CVS using ultrasound guidance. &lt;ref&gt;&lt;pubmed&gt;6463023&lt;/pubmed&gt;&lt;/ref&gt; With less chance of infective complications the procedure has become more popular than the transcervical method in many prenatal diagnostic centers. Other ultrasonic techniques and modifications were explored by the Brambati and Simoni group and the Golbus group in 1985. &lt;ref&gt;&lt;pubmed&gt;4088973&lt;/pubmed&gt;&lt;/ref&gt; The Golbus group reported in 1986 a miscarriage rate of 3.8%. &lt;ref&gt;&lt;pubmed&gt;3717235&lt;/pubmed&gt;&lt;/ref&gt; Subsequently, many other centres reported a much lower miscarriage rate of 1.5% which made the procedure safe for routine use.<br /> <br /> ==Table Comparing Prenatal Diagnosis Techniques==<br /> <br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ This table shows invasiveness and timeframe for some prenatal diagnostic techniques<br /> ! Invasiveness !! Diagnostic technique !! Comments !! Time that procedure can be performed !! Diagram<br /> |-<br /> |Non Invasive<br /> |[[2010_Group_Project_1|Ultrasound]]<br /> |'''Tests for:''' neural tube defects, chromosomal abnormalities and congenital heart abnormalities<br /> <br /> '''Risks:''' No risks currently indicated for ultrasound use in prenatal diagnosis. <br /> <br /> This test uses high frequency sound waves through a transmitting device, which construct a picture of the fetus when the waves are reflected and received back by the transmitter. Due to no known risks, ultrasound use is used routinely in pregnancies and is the first port of call for prenatal diagnosis. If a potential abnormality is found or the parents are high risk, then a more invasive diagnostic technique may be recommended. The type of diagnostic technique used depends on the potential abnormality found. &lt;ref&gt;Kremkali, F.W. (2006) Diagnostic Ultrasound Principles and Instruments (7th ed.) St Louis: Saunders Elsevier. pp3-5&lt;/ref&gt;[[2010_Group_Project_1|More about Ultrasound]]<br /> |Weeks 18-20<br /> |[[File:ZConvex_Array_Transducer.jpg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> |'''Tests for:''' chromosomal abnormalities and genetic abnormalities <br /> <br /> '''Risks:''' Miscarriage (1%), some of the side effects include dizziness, abdominal discomfort, cramping, haemorrhage, infection, ruptured amniotic sac, increased risk of limb defects if the test was performed at nine weeks’ gestation or earlier &lt;ref&gt;Alfirevic, Z., K. Sundberg, et al. 2008. &quot;Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review).&quot; Cochrane Database of Systematic Reviews 4: 1-134.&lt;/ref&gt;<br /> <br /> With the guidance of Ultrasound, a needle is inserted in to the abdomen or through the cervix and a small sample of chorionic villi from the placenta are obtained. This sample is sent to a cytogenetics laboratory where the cells are cultured and stained, and photographed to view chromosomes <br /> |Weeks 10-12<br /> |[[File:Transabdominal_CVS.jpg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_3|Amniocentesis ]] <br /> |'''Tests for:''' chromosomal abnormalities, fetal infections, and genetic abnormalities<br /> <br /> '''Risks:''' Miscarriage &lt;1%, stillbirths 3%, and small risk of infection. &lt;ref&gt;&lt;pubmed&gt;PMC2464303&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> A needle is inserted in to the uterus where a sample of the amniotic fluid surrounding the fetus is taken. This procedure is usually done with the guidance of ultrasound so the physician can see where the needle is being inserted. The amniotic fluid is analysed for abnormalities. [[2010_Group_Project_3|More about Amniocentesis ]]<br /> |Weeks 15-16<br /> |[[File:Process_of_amniocentesis.jpeg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_4|Percutaneous Umbilical Cord Blood Sampling]]<br /> |'''Tests for:'''chromosomal abnormalities, blood disorders, some metabolic disorders, fetal infections, and some causes of structural problems.<br /> <br /> '''Risks:'''Miscarriage &lt;2%, Preterm labour, fetal bradycardia, bleeding of the umbilical cord. &lt;ref&gt;&lt;pubmed&gt;16530195&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> A small needle is inserted in to the abdomen of the mother and a sample of blood is taken from the umbilical vein in the umbilical cord. This technique is often used when other diagnostic techniques are inconclusive, but should be used with caution as carries higher risk rates. The benefit of Percutaneous Umbilical Cord Blood Sampling is that the results are available much faster, within 72 hours of testing. CVS and amniocentesis tests need culturing and therefore take up to 11 days for a result. [[2010_Group_Project_4|More about Percutaneous Umbilical Cord Blood Sampling]]<br /> |Weeks 18-22<br /> |[[File:Placenta_Anterior.jpg|right|150 px]]<br /> |-<br /> |Less Invasive<br /> |[[2010_Group_Project_5|Fetal Fibronectin]]<br /> |'''Tests for:'''determines the likelihood of premature birth in women of high risk<br /> <br /> '''Risks:'''No known risks for the testing of Fetal Fibronectin, as is it less invasive than other techniques.<br /> <br /> Fetal Fibronectin is only found in the uterus until the onset of labour when is secretes in through the cervix. In this procedure, a sample of the cervico-vaginal secretions are taken and sent to the lab for testing. If the test comes out positive for Fetal Fibronectin in the vagina, the mother has a chance of going into premature labour. [[2010_Group_Project_5|More about Fetal Fibronectin]]<br /> |Weeks 24-34<br /> |[[File:FetalFN.jpg|right|150 px]]<br /> |-<br /> |Non Invasive<br /> |[[2010_Group_Project_6|Maternal serum alpha-fetoprotein]]<br /> |'''Tests for:'''AFP is a type of screening test and do not diagnose problems, but signal whether further testing is needed. Normal AFP levels are increased in Neural Tube Defects and Omphalocoele &amp; decreased in Down Syndrome.<br /> <br /> '''Risks:'''No known risks as Maternal serum alpha-fetoprotein is non invasive<br /> <br /> A blood sample is taken from the mother and alpha-fetoprotein levels are measured in the lab. These measurements can determine the risk level of certain abnormalities in the fetus. The advantage is that it is non invasive, but the disadvantage is that it has a very high false positive rate, so many mothers have gone on to have amniocentesis or chorionic villus sampling to find nothing is wrong with the baby. This can be overcome by having another alpha-fetoprotein test before getting amniocentesis or chorionic villus sampling. [[2010_Group_Project_6|More about Maternal serum alpha-fetoprotein]]<br /> |Weeks 15-20<br /> |[[File:Enzyme_immunoassay.jpg|right|150 px]]<br /> |-<br /> |}<br /> <br /> =Description of technique=<br /> [[File:Gray37.png|right|thumb|280px|Sample is taken from the chorionic villi]]<br /> [[File:transabdominal_CVS.jpg|right|thumb|280px|Transabdominal Technique]]<br /> [[File:transcervicalCVS.jpg|right|thumb|280px|Transcervical Technique]]<br /> <br /> The CVS procedure involves taking a sample of the chorion frondosum — the part of the chorionic membrane containing the villi. Between 10-12 weeks of pregnancy, the developing gestational sac is composed of a thick, outer chorionic membrane surrounding the amniotic cavity, a thin amniotic membrane and the chorionic cavity. The chorionic villi have now degenerated over most of the outer membrane, forming the chorion laeve, and the remaining villi fuses and embeds loosely into the decidua basalis. This forms the chorion frondosum, which will ultimately become the placenta. At this stage, the villi float freely in the blood of the intervillus space. Each villi is branched, and is composed of an outer syncytiotrophoblast and an inner cytotrophoblast layer. Within the centre of each villus is a mesenchymal core which contain capillaries carrying fetal blood. In CVS, usually samples of both cells lines (cytotrophoblasts and mesenchymal cells) are obtained. Chromosomal analysis of these cell lines can be performed by means of direct preparations, short-term cultures (cytotrophoblasts), or long-term cultures (mesenchymal cells) of the chorionic villi.&lt;ref&gt;Jenkins, T.M, Wapner, R.J, 1999. First trimester prenatal diagnosis: Chorionic villus sampling. Seminars in Perinatology. pp403-413.&lt;/ref&gt; <br /> <br /> CVS can be performed in two ways, through the cervix (transcervical) or through the abdomen (transabdominal). Both techniques are equally safe when performed by an experienced technician, however miscarriage rates are somewhat higher when done through the cervix. Prior to the procedure, an abdominal ultrasound can be performed to locate the position of the uterus, and the placenta. A full bladder is not required. Depending on the type of method performed, the vulva, vagina, cervix or abdomen are cleaned with antiseptic. The procedure normally takes only 1-2 minutes to perform and the patient is able to leave the clinic within the hour after the fetus is checked.&lt;ref&gt;Melbourne Ultrasound for Women. Chorionic Villus Sampling. Accessed 5 September 2010. http://www.nevdgp.org.au/info/melb_us/cvs_melb.htm&lt;/ref&gt; <br /> <br /> ===Transabdominal Procedure===<br /> <br /> # A local anaesthetic is first applied to the abdomen.&lt;br&gt;<br /> # A thin hollow needle is then inserted through the abdomen into the uterus and into the edge of the placenta where the chorion is located. An ultrasound transducer is commonly used to guide the needle during the procedure. &lt;br&gt;<br /> # A finer syringe needle is then passed through the outer needle, and the tissue is then drawn.&lt;br&gt;<br /> # The sample is taken to the laboratory for testing. <br /> <br /> ===Transcervical Procedure===<br /> # A speculum is inserted in the vagina and the area is cleaned with antiseptic.&lt;br&gt;<br /> # With the help of ultrasound imaging, a thin cannula is then inserted through the cervix and uterus and into the placenta.&lt;br&gt;<br /> #The tissue sample is then taken up through the cannula.&lt;br&gt;<br /> &lt;ref&gt;&lt;pubmed&gt;20154617&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> After the sample is taken to the laboratory, the cells are grown until there are enough cells for chromosome testing. The results normally take up to 2 weeks to complete.<br /> <br /> ===Complications===<br /> <br /> Some of the side effects and complications after a CVS procedure can include:<br /> <br /> * Dizziness <br /> * Abdominal discomfort<br /> * Cramping<br /> * Haemorrhage<br /> * Infection<br /> * Ruptured amniotic sac<br /> * Increased risk of limb defects if the test was performed at nine weeks’ gestation or earlier<br /> * Premature delivery<br /> &lt;ref&gt;Alfirevic, Z., K. Sundberg, et al. 2008. &quot;Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review).&quot; Cochrane Database of Systematic Reviews 4: 1-134.&lt;/ref&gt;<br /> <br /> Additional complications can involve technical errors such as failure of the specimen to grow sufficiently in the laboratory and uncertain laboratory results. If this occurs, amniocentesis is still an option after 15 weeks.<br /> <br /> ===Results and Accuracy===<br /> <br /> The accuracy of CVS to detect chromosome abnormalities is quite high, at around 98-99% &lt;ref&gt;Hall, Judith G. &quot;Chromosomal Clinical Abnormalities.&quot; In Nelson Textbook of Pediatrics. Edited by Richard E. Behrman et al. Philadelphia: Saunders, 2004.&lt;/ref&gt;. Although it has a high accuracy rate to diagnose most major chromosomal problems, CVS does have some limitations. Having a negative result for an abnormality does not rule out ALL genetic defects the baby may have. Comparatively to amniocentesis, CVS does NOT detect neural tube defects such as spina bifida, or anencephaly. <br /> The type of chromosome abnormalities detected by CVS will be further discussed in detail below.<br /> <br /> ===Limitations===<br /> [[file:Double_tetrasomy_18_mosaicism.jpg‎|thumb|250 px|Example of a child with double tetrasomy 18+ mosaicism.]]<br /> <br /> '''Maternal contamination'''<br /> <br /> Since the villus sample also involves maternal cells, there is a possibility that they may take over the laboratory culture instead, consequently leading to the mother's cells being tested instead of the fetus's cells. The risk of this happening is low however and is decreased when the sample contains an adequate amount of fetal cells.<br /> <br /> <br /> '''Mosaicism'''<br /> <br /> &quot;Mosaicism&quot; occurs when both abnormal and normal cells are found in the chorionic villi. Mosaicism can involve both the fetus (true fetal mosaicism) and the placental tissues or the placental tissues alone. When this happens, cells that multiply from these abnormal cells may develop a chromosome anomaly.<br /> What can result is that in certain body organs the fetus has a combination of cells that are abnormal and normal in genetic structure. <br /> The rate of the placental type occuring is found in 1-2% of pregnancies detected by CVS.&lt;ref&gt;&lt;pubmed&gt;9316125&lt;/pubmed&gt;&lt;/ref&gt; When mosaicism is detected by CVS, the limitation lies in the inability to conclude that the baby itself and not just the placental tissues will share the mosaicism. Even if the baby is affected, it will be unclear as to what percentage of the fetal cells and the type of organs that will be affected.&lt;ref&gt;Trofatter. K.F. 2008. Chromosomal Mosaicism Detected at the Time of Chorionic Villus Sampling. Accessed on 15 September 2010. http://www.healthline.com/blogs/pregnancy_childbirth/2008/03/chromosomal-mosaicism-detected-at-time.html&lt;/ref&gt;<br /> <br /> =Risks=<br /> <br /> <br /> When Chorionic Villus Sampling is performed, a small sample of the placenta is removed for analysis. The placenta contains fetal material, therefore can reveal genetic defects which may lead to problems or abnormalities. &lt;ref&gt;&lt;pubmed&gt;20664398&lt;/pubmed&gt;&lt;/ref&gt; This prenatal test can be performed as early as 11 weeks into the pregnancy, this is earlier than many prenatal diagnosis tests, which is why many parents choose CVS as they can have solid information earlier in the pregnancy. Some common risks which are not under current research include: Cramping, light blood spotting, pain, fever and chills, leakage (which can be a major concern as it can lower amniotic fluid to a dangerous level for the infant), and potential for missing fingers and toes in the newborn. For this reason, the procedure is only recommended for women who are at least 11 weeks pregnant. &lt;ref&gt;&lt;pubmed&gt;20051662&lt;/pubmed&gt;&lt;/ref&gt; The other major risks that are currently being researched are outlined below<br /> <br /> ====Transabdominal vs Transcervical CVS. Comparison of risks====<br /> <br /> <br /> [[File:CVS_Table.jpg|left|thumb|280px|Transabdominal vs Transcervical risks]]<br /> <br /> This table shows the symptoms of women approximately 3 days after sampling. Women who had transcervical sampling had higher occurrence of fluid leakage and spotting. When a tenaculum is not used, the occurrence of vaginal spotting and bleeding continued. &lt;ref&gt;Jackson, L.G., Zachary, J.M., Fowler, S.E., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Mahoney, M.J., Pergament, E., Simpson, J.L., Black, S. &amp; Wapner, R.J. 1992, &quot;A Randomized Comparison of Transcervical and Transabdominal Chorionic-Villus Sampling&quot;, New England Journal of Medicine, vol. 327, no. 9, pp. 594-598.&lt;/ref&gt;<br /> <br /> ====Miscarriage====<br /> <br /> One of the biggest risks of Chorionic Villus Sampling is miscarriage. In one to 100 or 200 cases, the procedure is linked with miscarriage. &lt;ref&gt;&lt;pubmed&gt;19155918&lt;/pubmed&gt;&lt;/ref&gt; In an experienced clinic, this rate may go down to one in 300 to 400. To lower the risk of miscarriage with Chorionic Villus Sampling, it is recommended the procedure be performed by an experienced clinician<br /> <br /> <br /> ====Oligohydramnios====<br /> <br /> Oligohydramnios is a condition due to low amniotic fluid level, which is caused by amniotic fluid leakage. Amniotic fluid leakage is typically caused by fetal urinary tract abnormalities such as Potter's syndrome, polycystic kidneys, or genitourinary obstruction. But leakage can sometimes be caused by sampling of the chorionic villi due to insertion of the needle. If the resulting oligohydramnios is not treated and the amniotic fluid continues to leak it can result in the baby developing hypoplastic lungs (underdeveloped lungs). &lt;ref&gt;&lt;pubmed&gt;17694578&lt;/pubmed&gt;&lt;/ref&gt;&lt;br&gt;&lt;br&gt;<br /> <br /> <br /> <br /> <br /> <br /> <br /> '''Why would you use CVS over other techniques?'''<br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ Advantages and Disadvantages of Chorionic Villus Sampling<br /> ! Advantages !! Disadvantages <br /> |-<br /> |Can be performed earlier in pregnancy than amniocentesis (at around ten weeks).<br /> <br /> Results are available faster<br /> <br /> Cells obtained are mitotically active<br /> <br /> Amount of tissue obtained is preferable for DNA analysis.<br /> <br /> It is almost 100% reliable in detecting chromosomal and genetic defects.<br /> |It carries a slightly higher risk of miscarriage (1%-2%) than does amniocentesis<br /> <br /> It's less commonly available than amniocentesis, and fewer doctors are experienced in the procedure.<br /> <br /> It entails a greater risk of distorted results than does amniocentesis due to presence of mother's cells in the sample and discrepancies between chorionic villi and fetal genes.<br /> <br /> Metabolic disorders are difficult to diagnose and must be confirmed with amniocentesis.<br /> <br /> Because of the early gestational age at which the test is performed, fetal anatomy cannot be seen as well as it can at the time amniocentesis is performed.<br /> |-<br /> |}<br /> &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt;<br /> <br /> =Abnormalities found by CVS prenatal diagnostic technique=<br /> <br /> [[File:Down-normal.gif|right|thumb|280px|Normal]]<br /> <br /> [[File:Down-extra.gif|right|thumb|280px|third copy of chromosome 21]]<br /> <br /> The cells collected by CVS are sent to a cytogenetics laboratory. There the cells are cultured (stimulated to grow and divide) for 10-14 days. After enough cells are obtained, a banded karyotype is performed. This means that the fetal chromosomes in the cultured cells are stained and subsequently photographed. The photographed chromosomes are then ordered by number, counted and checked for structural abnormalities. There should be 46 chromosomes, 23 pairs. A boy's karyotype is described as 46,XY and a girl's karyotype is described as 46,XX.&lt;ref&gt;Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., de, l.C., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Lubs, H.A., Mahoney, M.J., Pergament, E., Simpson, J.L., Carpenter, R.J., Elias, S., Ginsberg, N.A., Goldberg, J.D., Hobbins, J.C., Lynch, L., Shiono, P.H., Wapner, R.J. &amp; Zachary, J.M. 1989, &quot;The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities&quot;, New England Journal of Medicine, vol. 320, no. 10, pp. 609-617. &lt;/ref&gt;<br /> <br /> <br /> <br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ This table shows what disorders CVS detects, the cause, frequency and any comments<br /> ! Disorder !! Cause !! Comments !! Frequency !! Picture <br /> |-<br /> |[[ Trisomy 21 | Down Syndrome ]]<br /> |A third copy of chromosome 21<br /> <br /> Normally, there are only two copies of this chromosome<br /> |The average IQ of children with Down syndrome is around 50, compared to normal children with an IQ of 100. Complications for people with down syndrome include: congenital heart defects, gastroesophageal reflux disease, recurrent ear infections, obstructive sleep apnea, and thyroid dysfunctions. &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt; The picture shows a newborn infant with Down Syndrome (Trisome 21)<br /> |Approximately 1 in 1,000 births &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt;<br /> |[[File:Trisomy_21_newborn.jpg|right|200 px]]<br /> |-<br /> |[[ Trisomy 13 | Trisomy 13 ]]<br /> |A third copy of chromosome 13<br /> <br /> Normally, there are only two copies of this chromosome<br /> |Also called Patau syndrome. This abnormality causes mental and motor abnormalities, polydactyly (extra digits), kidney defects, abnormal genitalia and heart defects, among many others. &lt;ref&gt;Driscoll, D.A. &amp; Gross, S. 2009, &quot;Prenatal Screening for Aneuploidy&quot;, New England Journal of Medicine, vol. 360, no. 24, pp. 2556-2562. &lt;/ref&gt; The picture shows an infant with polydactyly, a potential complication of Trisome 13<br /> |Less than 1% <br /> |[[File:220px-Patauhand.PNG|right|200 px]]<br /> |-<br /> |[[ Trisomy 18 | Trisomy 18 ]]<br /> |A third copy of chromosome 18<br /> <br /> Normally, there are only two copies of this chromosome<br /> |Also known as Edwards syndrome. It has a very low survival rate, due to: kidney and heart defects, intestines protruding outside the body, mental abnormalities, growth disorders, feeding and breathing difficulties. &lt;ref&gt;Driscoll, D.A. &amp; Gross, S. 2009, &quot;Prenatal Screening for Aneuploidy&quot;, New England Journal of Medicine, vol. 360, no. 24, pp. 2556-2562. &lt;/ref&gt; The picture shows a clenched hand and overlapping fingers: index finger overlaps third finger and fifth finger overlaps fourth finger, characteristically seen in Trisomy 18.<br /> |1 in 3,000 conceptions and approximately 1 in 6,000 live births <br /> |[[File:200px-Overlapping_fingers.JPG|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Cystic_fibrosis Cystic Fibrosis]<br /> |A mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR) in chromosome 7.<br /> |An autosomal recessive disease that causes excessive sticky mucous to form on mucosal surfaces effecting the digestive and respiratory organs. &lt;ref&gt;Levison, J.H., Barbieri, R.L., Katz, J.T. &amp; Loscalzo, J. 2010, &quot;Hard to Conceive&quot;, New England Journal of Medicine, vol. 363, no. 10, pp. 965-970. &lt;/ref&gt; The picture shows clubbing of the fingers in a person with cystic fibrosis<br /> |Approx 1 in 3,000 <br /> |[[File:220px-ClubbingCF.JPG|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Hemoglobinopathy Hemoglobinopathy]<br /> |Structural abnormalities in the globin proteins <br /> |Multiple types of abnormal haemoglobins exist including Haemoglobin S, C E and D that alter the structure of these proteins. A common defect is sickle cell disease.&lt;ref&gt;Abboud, M.R. 2009, &quot;Hematopoietic Stem-Cell Transplantation for Adults with Sickle Cell Disease&quot;, New England Journal of Medicine, vol. 361, no. 24, pp. 2380-2381. &lt;/ref&gt;<br /> |Hemoglobinopathies are a genetic defect and therefore an inherited disorder, frequency depends on which particular hemoglobinopathy is being discussed, eg. in the case of Sickle cell disease, it is estimated that 7% of worlds population are carriers<br /> |[[File:Series_10-09.jpg|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease Tay Sachs Disease]<br /> |mutations on chromosome 15 in the HEXA gene <br /> |It is a rare autosomal recessive defect inherited from parents that are carriers for the disease. Affected individuals suffer from premature nerve cells death in the brain. &lt;ref&gt;&lt;pubmed&gt;20100466&lt;/pubmed&gt;&lt;/ref&gt;<br /> |Approx 1 in 300 are carriers<br /> |[[File:220px-Autorecessive.svg.png|right|200 px]]<br /> |-<br /> |}<br /> <br /> =Outcomes=<br /> <br /> Since CVS is able to detect a variety of chromosome abnormalities, there is a chance that the baby may be affected with a defect. If the test results are normal however, this does not exclude other congenital defects and neural tube defects that can occur that can be detected by other prenatal diagnosis methods. IF the test result is positive and a defect is detected by CVS, the mother has several options available. One is to terminate the pregnancy and the other is to seek treatment after the baby is born. If the mother chooses to terminate the pregnancy, doctors have a responsibility to educate the mother and offer counseling.<br /> <br /> Doctors should:<br /> <br /> *Give parents information about the defect so that they can be prepared.<br /> *Talk to parents about the baby's predicted quality of life.<br /> *Should explain any procedures that will be done to the baby after he is born.<br /> *Doctors should do their best to tell parents what the problem is and how serious it is.<br /> <br /> Abortion is the termination of pregnancy, with the removal of the fetus and placenta from the uterus. In Australia, abortion laws vary by state and usually allow this up to a range of about 12 - 20 weeks into the pregnancy, on the grounds of fetal abnormalities, endangerment of the mother and other socio-economic factors.&lt;ref&gt;Cica. N., 1998. Abortion Law in Australia. Parliament of Australia, Parliamentary Library. Accessed September 29. 2010. &lt;http://www.aph.gov.au/library/pubs/rp/1998-99/99rp01.htm&gt;&lt;/ref&gt; If the mother chooses to terminate the pregnancy, counselling is usually done to make sure the parents understand the issues and ethics surrounding abortion.<br /> There are currently two ways to perform an abortion:<br /> <br /> '''Surgical abortion -''' Also called suction aspiration, or suction currette, this is the most common procedure used for first trimester abortion(up to 12 weeks) The cervix is dilated, and a tube is inserted through the cervix and a suction removes the fetus and the placenta. A curette is then used to scrape the wall of the uterus to ensure any remains are not left inside. If later in pregnancy, other surgical techniques are used. <br /> <br /> '''Medical abortion -''' ''(Note: Not applicable in this case due to CVS being performed at 10-12 weeks.)''This involves administration of a drug called mifepristone (RU486). Available for abortions earlier than 2-9 weeks, it is a low-risk and effective method instead of the surgical method earlier in pregnancy. Usage of the drug is available in many countries but is currently restricted in Australia.<br /> <br /> ===Treatment===<br /> <br /> If the mother decides to continue on with the pregnancy, treatment options are necessary for the baby after birth to maintain the health and symptoms associated with a defect. Some of these management options for some of the defects will be discussed below. <br /> <br /> '''Down Syndrome'''<br /> <br /> Treatment and therapies for Down syndrome available include the physical, medical and cognitive problems associated with Down Syndrome. Medical treatment such as surgery or medications, while early intervention programs and therapies help babies and children achieve better quality of life. For example, children with Down Syndrome have a higher risk for having many conditions such as congenital heart defects, problems with the thyroid, muscles, joint, vision and hearing problems. Medications can be used to treat these different problems, such as if the thyroid is affected, a child will benefit from taking thyroid replacement hormones. Medications aim to control the symptoms and reduce the impact the condition will have on the baby. There is no medication that can cure chromosome abnormalities. Some individuals affected with cardiac and gastrointestinal problems may also need surgery soon after birth. Regular screening for vision problems, hearing, hypothyroidism, and other medical conditions should be performed.<br /> <br /> Cognitive development can be assisted with physiotherapy and speech therapy for example. Since children with Down Syndrome can have speech problems due to their relatively small mouths and large tongue, speech therapy can help the child to communicate properly. Physical therapy is often needed since individuals with Down Syndrome have hypotonia (low muscle tone)which needs to be improved by developing motor skills.<br /> <br /> '''Trisomy 13'''<br /> <br /> Since Trisomy 13 causes a range of serious complications like congenital heart disease and brain and spinal cord abnormalities, the survival rate is low, with a median survival time of 2.5 days. &lt;ref&gt;&lt;pubmed&gt;11310997&lt;/pubmed&gt;&lt;/ref&gt; Treatment is usually directed towards the specific symptoms that are present in the affected child, which differs to each individual. In some cases, treatment may include surgical procedures to correct cleft lip and palate, or surgery to correct heart defects. This will depend upon the severity and nature of the abnormalities and symptoms.&lt;Ref&gt;Stewart, K. B., 2007. Trisomy 13 - Patau Syndrome. [Fact sheet] Centre for Genetics Education. Accessed 29 September, 2010. &lt;http://www.genetics.com.au/pdf/factsheets/fs29.pdf&gt;&lt;/ref&gt;<br /> <br /> '''Cystic fibrosis'''<br /> <br /> There is currently no cure for cystic fibrosis, but various treatment methods can manage the symptoms of lung and digestive problems, liver and gallbladder diseases and infertility. Digestive problems can be corrected by having a diet that is low in fat and high in protein, with vitamin supplements. Regular antibiotics are prescribed to prevent and to treat lung infections, and mucolytics are needed to make the mucous less sticky. Other methods to dislodge and remove mucous is manual chest physiotherapy, where it consists of bronchial drainage done manually or mechanically. Manual drainage can be done by performing controlled breathing techniques or the chest is vibrated or clapped to dislodge the mucous out of the airways. &lt;ref&gt;&lt;pubmed&gt;18079549&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> '''Tay-sachs disease'''<br /> <br /> The prognosis for babies with the condition is usually poor, with children living to the age of 4-5.&lt;ref&gt;National Institute of Neurological Disorders and Stroke. 2007. Tay-Sachs Disease Information Page. Accessed September 29, 2010. &lt;http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm&gt;&lt;/ref&gt; Therefore treatment for Tay-sachs disease is usually to help alleviate symptoms associated with the disease. Spasticity and siezures can be helped by administering anticonvulsants, while other supportive methods include respiratory care to keep the airway open and proper nutrition and hydration.<br /> <br /> =Ethical concerns=<br /> <br /> =Current associated research=<br /> <br /> Chorionic Villus Sampling (CVS) is one of many prenatal diagnostic tools for expectant mothers, it is popular since it can be used to identify potential problems with a fetus at a very early stage. However, the procedure does carry some risks, as does any invasive diagnostic procedure. As chorionic villus sampling is a relatively new technique, made available for safe routine use only 20 years ago, the current associated research is mainly associated with risks associated with the procedure, and ways to overcome these risks. The next section in this page will discuss the current research on CVS and the risks involved in the procedure, and not what the test results may find. <br /> <br /> ====Hypertensive disorders of pregnancy====<br /> <br /> Hypertension, or high blood pressure, is a condition where systemic arterial blood presssure is elevated. Hypertension is one of the most common medical problem during pregnancy, affecting about 2-3% of pregnancies.&lt;ref&gt;Gibson, P., Carson, M.P, 2010. Hypertension and Pregnancy. Accessed 29 September, 2010. &lt;http://emedicine.medscape.com/article/261435-overview&gt;&lt;/ref&gt;<br /> Pregnancy induced hypertension is a condition that can occur during and after the 20th week of pregnancy. The types of hypertensive disorders can include:<br /> <br /> [[File:Enamel_Hypoplasia_Due_to_Maternal_Toxemia.jpg|thumb|200px|right|Enamel hypoplasia due to maternal toxemia]]<br /> <br /> *Pre-eclampsia or toxemia – Characterised as high blood pressure above 140/90 with proteinuria (protein in the urine that is above 300mg)<br /> * Eclampsia - Developed in a pregnant woman who has had pre-eclampsia and is characterised by seizures <br /> * Gestational hypertension – arterial hypertension that occurs after the 20th week of gestation <br /> <br /> If untreated, the condition may develop into HELLP syndrome which is a serious complication noted by hemolytic aneamia, elevated liver enzymes and a low platelet count. <br /> <br /> <br /> There has been conflicting evidence in literature that suggests that CVS is associated with hypertensive disorders in pregnancy such as pre-clampsia and gestational hypertension. In several studies, such as data from the National Institute of Health that compared late CVS procedures with early amniocentesis, showed a higher rite of gestational hypertension and preeclampsia in pregnant mothers.&lt;ref&gt;&lt;pubmed&gt;15738029&lt;/pubmed&gt;&lt;/ref&gt; (5.4% for mothers who had CVS and 3.5% that had amniocentesis.) It was hypothesized that disruption and disturbance of the placenta at 13-14 weeks may increase the risk of maternal hypertension. In addition, another recent study in 2006 also reported that there was an increase in the rate of pre-clampsia in first-time expectant mothers who have had CVS.&lt;ref&gt;&lt;pubmed&gt;19455602&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> However, in a very recent data investigation of among 9098 women that were pregnant between 1990 and 2006, the overall incidence of hypertensive disorders with women who have had CVS was 2.7% compared to the control group that did not have the procedure done which was 7.1%.&lt;ref&gt;&lt;pubmed&gt;19918960&lt;/pubmed&gt;&lt;/ref&gt; Similarly, in a study conducted by The American College of Obstetricians and Gynecologists,&lt;ref&gt;&lt;pubmed&gt;20664398&lt;/pubmed&gt;&lt;/ref&gt; 31, 138 women were that were included in the investigation showed that 2.2% developed preeclampsia and 2.8% developed gestation hypertension. Only 7.8% of those individuals had previously had CVS procedure performed. <br /> <br /> Although it can be said that some woman may develop hypertensive disorders during pregnancy that have also had the CVS procedure done in the past, there is no conclusive evidence so far that definitively associates CVS with hypertensive disorders such as pre-clampsia and gestation hypertension.<br /> <br /> ====Malformations====<br /> [[File:Craniosynostosis_.jpg|right|250 px]]<br /> <br /> <br /> Many malformations were thought to be a result of more invasive prenatal diagnostic techniques such as chorionic villus sampling. These malformations include, but are not limited to, cardiac malformations, hypospadias, craniosynostosis, pyloric stenosis, inguinal hernia, polydactyly, syndactyly, hydrocephalus and cleft lip and palate. Although these studies have now confirmed no known relationship with CVS, we will mention some below. &lt;ref&gt;&lt;pubmed&gt;7937577&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> '''Craniosynostosis''' is a condition where one of the sutures of the skull prematurely fuses, this causes the other sutures to compensate in growth for the fused suture. In normal development of the skull, the sutures allow for brain growth, so if one suture fuses prematurely, the brain can not grow normally, and the other sutures over expand in compensation. In the shown image, pictures a1 and a2 show the normal development and fusing of the infant skull. b2 shows how a suture is prematurely fused and b1 shows how the abnormality shows in an infant child.<br /> Craniosyntosis may result in increased pressure on the brain and developmental delays. Treatment of craniosynostosis usually consists of surgery to the skull where a zigzag incision is made to make the hair look more natural than the scar left by a straight incision. The surgery separates the sutures that have joined together to allow the head to develop normally.<br /> <br /> &lt;ref&gt;Silver, R.K., Macgregor, S.N., Muhlbach, L.H., Knutel, T.A. &amp; Kambich, M.P. 1994, &quot;Congenital malformations subsequent to chorionic villus sampling: Outcome analysis of 1048 consecutive procedures&quot;, Prenatal diagnosis, vol. 14, no. 6, pp. 421-427. &lt;/ref&gt;<br /> <br /> [[File:Polydactyly.jpg|left|200 px]]<br /> '''Polydactyly''' is a congenital condition where an extra digit is formed. Mostly it occurs on only one hand or foot, but sometimes can occur on all limbs. The extra digit is mostly a small non-function appendage of skin, less often it is an extension of the adjacent digit, and rarely it is a fully functioning finger that arises from the wrist or ankle joint like the other digits. Polydactyly can be described as: <br /> <br /> ● postaxial polydactyly (arising from the little finger)<br /> <br /> ● preaxial polydactyly (arising from the thumb) or<br /> <br /> ● central polydactyly (arising from anywhere between the other digits)<br /> <br /> Polydactyly is seen in 1 in every 500 births, but the extra digit is usually surgically removed shortly after birth<br /> &lt;ref&gt;&lt;pubmed&gt;20661588&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> [[File:Syndactyly2.JPG|left|200 px]]<br /> '''Syndactyly''' is also a congenital condition, but is seen when digits are fused together. Syndactyly can be described as:<br /> <br /> ● simple syndactyly (where only skin is fused to the adjacent finger)<br /> <br /> ● complex syndactyly (where the bone is fused together)<br /> <br /> ● incomplete syndactyly (where fusion is only part of the way up the digit), and,<br /> <br /> ● complete syndactyly (where fusion is to the tip of the digit)<br /> <br /> The picture on the left shows an example of polysyndactyly, where the digits are both fused, and there is an extra digit.<br /> &lt;ref&gt;&lt;pubmed&gt;20811188&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> <br /> <br /> <br /> <br /> ====Hemangiomas====<br /> <br /> [[File:Capillary_haemangioma.jpg|thumb|200px|right|Hemangioma]]<br /> <br /> A hemangioma is a benign tumour growth of endothelial cells that can occur in newborns and infants. Hemangiomas can occur anywhere in the body but are often localised on the skin of the face and neck, and are characterised by a red to reddish purple raised lesion on the skin, similarly to a &quot;strawberry&quot; like appearance. Its red appearance is due to the newly formed blood vessels, which result from the malformation of angioblastic tissues of fetal life.&lt;ref&gt;&lt;pubmed&gt;7063565&lt;/pubmed&gt;&lt;/ref&gt; <br /> Most hemangiomas do not cause any serious complications, and regress later on in life, where 90% of hemangiomas in children would disappear by the age of 9. <br /> <br /> Recently, research has linked the increase in the incidence of hemangiomas in infants following CVS. It has been postulated that the mechanism of hemangioma formation is associated with the embolisation of angioblasts or endothelial cells from the placenta to the fetal skin.&lt;ref&gt;&lt;pubmed&gt;19218861&lt;/pubmed&gt;&lt;/ref&gt; Although this may link hemangiomas to placental origin, it is unclear how, or whether CVS directly interferes or enhances the formation of these lesions. However, a recent study that compared the effects of CVS and amniocentesis on the prevalence of hemangiomas in infants showed that 27% of the study group had hemangiomas with CVS compared to 9.4% in children with hemangiomas and amniocentesis. &lt;ref&gt;&lt;pubmed&gt;20824891&lt;/pubmed&gt;&lt;/ref&gt; Furthermore, in an previous study conducted in 1995, there was a threefold increase in incidence after trancervical procedure was done, compared to amniocentesis.&lt;ref&gt;Lo, K., Mihm, M. &amp; Fay, A. 2009, &quot;Current Theories on the Pathogenesis of Infantile Hemangioma&quot;, Seminars in ophthalmology, vol. 24, no. 3, pp. 172-177. &lt;/ref&gt;&lt;ref&gt;&lt;pubmed&gt;7784377&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> =Future of Chorionic Villus Sampling and Prenatal diagnosis techniques=<br /> <br /> [[File:FISH_(technique).gif‎|thumb|250 px|FISH technique]]<br /> <br /> [[File:Comparative_Genomics.jpg|thumb|250 px|Comparative Genomics]]<br /> <br /> Prenatal diagnosis has been used to detect chromosomal abnormalities, especially Down’s syndrome, for over 30 years. As we have discussed on this page, the most common forms of prenatal diagnosis are amniocentesis, CVS and ultrasound. The type of test used depends on the history of the parents, any abnormalities detected in the initial ultrasound examination, and preferences of the parents. Testing for chromosomal abnormalities using amniocentesis and CVS is invasive and somewhat time consuming. Some recent advancements in this field include the use of fluorescence in situ hybridisation (FISH), quantitative fluorescence-PCR techniques, and comparative genomics. Although these techniques are currently still invasive, the waiting time for these tests is usually only 1 to 2 days for chromosomal abnormalities. &lt;ref&gt;&lt;pubmed&gt;20014413&lt;/pubmed&gt;&lt;/ref&gt; This waiting time would mean a much less stressful waiting period for the parents. The future of prenatal diagnosis certainly lies in the field of non invasive techniques, and research in the field of prenatal diagnosis is looking toward making detection of abnormalities non invasive, using the fetal cells from maternal circulation. &lt;ref&gt;&lt;pubmed&gt;20014413&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> '''Fluorescence in situ hybridisation (FISH):''' FISH is a cytogenetic technique, involving analysing the number and shape of the chromosomes of cells. FISH detects the addition or deletion of specific DNA sequences on chromosomes using florescent probes that bind to a similar sequence of chromosomes. Once the florescence probes are attached, fluorescence microscopy is used to view the chromosomes and detect the abnormality. In prenatal diagnosis, FISH is useful for detecting trisomy and monosomy conditions.[http://en.wikipedia.org/wiki/Fluorescent_in_situ_hybridization More about FISH]<br /> <br /> <br /> '''Comparative genomics:''' Comparative Genomics is a very new research field where the genome sequence of different organisms are compared. This comparison between organisms shows where a species genomes have been conserved (stabilising selection) and where differences occur (positive selection). Many species share the same genes, and comparative genomics can show what species share genes and which genes are different among species. This information can help us understand the function of different genes and identify and control diseases. The purpose is to gain a better understanding of how species have evolved and to determine the function of genes. In prenatal diagnosis, fetal cells can be viewed and compared against both parents genome, any change that deviates from the normal pattern due to too much or too little DNA can be seen, this deviation of the normal pattern means a certain chromosome has either been copied or deleted, causing disease. [http://www.ornl.gov/sci/techresources/Human_Genome/faq/compgen.shtml More about Comparative Genomics]<br /> <br /> =Useful links=<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Wikipedia'''[http://en.wikipedia.org/wiki/Chorionic_villus_sampling Chorionic villus sampling]<br /> <br /> '''Fact sheets''' [http://www.thewomens.org.au/ChorionicVillusSamplingCVS Chorionic villus sampling]<br /> <br /> '''Images''' [http://www.google.com.au/images?q=chorionic+villus+sampling&amp;oe=utf-8&amp;rls=org.mozilla:en-US:official&amp;client=firefox-a&amp;um=1&amp;ie=UTF-8&amp;source=univ&amp;ei=yCWcTKT-NsircY-nzNEJ&amp;sa=X&amp;oi=image_result_group&amp;ct=title&amp;resnum=4&amp;ved=0CD4QsAQwAw&amp;biw=1280&amp;bih=615 Chorionic villus sampling]<br /> <br /> '''You tube video of procedure''' [http://www.youtube.com/watch?v=0XUZsvTkEnw Chorionic villus sampling]<br /> <br /> =Glossary=<br /> <br /> '''Amniocentesis''' - A prenatal diagnostic test involving sampling of amniotic fluid by needle aspiration for genetic analysis.<br /> <br /> '''Amnion''' - An extraembryonic membrane ectoderm and extraembryonic mesoderm in origin and forms the innermost fetal membrane, produces amniotic fluid. This fluid-filled sac initially lies above the trilaminar embryo disc and with embryoic disc folding this sac is drawn ventrally to enclose (cover) the entire embryo, then fetus.<br /> <br /> '''Amniotic cavity''' - The fluid-filled (amniotic fluid) extraembryonic coelom (cavity) formed initially by epiblast and then ectoderm and surrounding extraembryonic mesoderm. In humans, it forms the innermost fetal membrane, produces amniotic fluid expanding to fuse with the chorionic membrane during week 8 of development.<br /> <br /> '''Amniotic fluid''' - The fluid that fills amniotic cavity totally encloses and cushions the embryo.<br /> <br /> '''Cannula''' - A flexible medical tube with a sharp-pointed part at one end that is inserted into a duct, vein, or cavity in order to drain away fluid or to administer drugs<br /> <br /> '''Chorion''' - The extraembryonic membrane generated from trophoblast and extraembryonic mesoderm that forms placenta. chorion and amnion are made by the somatopleure. The chorion becomes incorporated into placental development. The avian and reptilian chorion lies beside the egg shell and allows gas exchange.<br /> <br /> '''Chorionic villus sampling (CVS)''' - The taking a biopsy of the placenta, usually at the end of the second month of pregnancy, to test the fetus for genetic abnormalities.<br /> <br /> '''Chromosome''' - double stranded DNA coiled around histones. Condenses during mitosis and meiosis.<br /> <br /> '''Ectoderm''' - One of the initial 3 germ cell layers, which will form the nervous system from the neural tube and neural crest and also generates the entire epithelial layer of the skin covering the embryo.<br /> <br /> '''Endoscope''' - a long slender medical instrument for examining the interior of a bodily organ or performing minor surgery<br /> <br /> '''Endoderm''' - One of the initial 3 germ cell layers (ectoderm, mesoderm and endoderm) formed by the process of gastrulation. The endoderm forms as a cuboidal epithelium and contributes not only to the trilaminar embryo, but also lines the yolk sac. It will form the entire epithelial lining of the gastrointestinal tract (GIT), contribute to the accessory organs of GIT and also forms the epithelial lining of the respiratory tract.<br /> <br /> '''Fetus''' - In mammals, term describes the period of development following the embryonic period. In humans, the development week 9 to 36 is the fetal stage (second and third trimester). (see fetal period above). This term is also used non-scientifically to describe the human conceptus at both embryonic and fetal stages of development.<br /> <br /> '''Gene''' - A DNA sequence that is transcribed as a single unit and encodes a single polypeptide (protein) or a set of closely related polypeptides. There are approximately 20,000-25,000 protein encoding genes in the human genome. In each cell, DNA is found within the nucleus and also within mitochondria.<br /> <br /> '''Gestation''' - The period of time from conception to birth. A pregnancy with multiple fetuses is referred to as a multiple gestation.<br /> <br /> '''Mesoderm''' - The middle layer of the 3 germ cell layers of the trilaminar embryo.<br /> <br /> '''Miscarriage''' - A general clinical term for the loss of embryo or fetus by spontaneous abortion.<br /> <br /> '''Mitosis''' - The normal division of all cells, except germ cells, where chromosome number is maintained (diploid). <br /> <br /> '''Prenatal diagnosis''' - any of the diagnostic procedures used to determine whether a fetus has a genetic abnormality<br /> <br /> '''Tenaculum''' - instrument used to grasp the cervix and keep the uterus in place during gynecological procedures.<br /> <br /> '''Termination''' - The spontaneous or artificially induced expulsion of an embryo or fetus. As used in legal context, the term usually refers to induced abortion.<br /> <br /> '''Transabdominal''' - In the transabdominal CVS technique, the physician inserts a needle through the abdomen into the placenta. This is also done with ultrasound, to guide the physician<br /> <br /> '''Transcervical''' - In the transcervical CVS technique, the physician inserts a small tube through the cervix into the placenta. This is done while ultrasound guides the physician<br /> <br /> '''Ultrasound''' - A non-invasive technique for visualizing and prenatal diagnosis of several features of development including: follicles in the ovaries, the gestational sac, fetus in the uterus, fetal parameters, and the placenta. The technique uses high-frequency sound waves that are reflected off internal structures. These reflections can then be analysed and displayed by computer.<br /> <br /> '''Villi''' - Plural of villus, which is a thin projection from a surface. A term used to describe the many functional units together of the fetal placenta. <br /> <br /> '''Vitelline arteries and veins''' - The blood vessels which form in the extraembryonic mesoderm of the yolk sac and anastomose are called vitelline arteries (flow away from the embryo) and vitelline veins (flow toward the embryo).<br /> <br /> ==Prenatal Diagnosis Terms==<br /> <br /> '''false negative rate''' - The proportion of pregnancies that will test negative given that the congenital anomaly is present.<br /> <br /> '''false positive rate''' - The proportion of pregnancies that will test positive given that the congenital anomaly is absent.<br /> <br /> '''negative predictive value''' - The probability that a congenital anomaly is absent given that the prenatal screening test is negative.<br /> <br /> '''positive predictive value''' - The probability that a congenital anomaly is present given that the prenatal screening test is positive.<br /> <br /> '''pre-implantation genetic diagnosis''' - (PGD) a screening procedure for embryos produced through in vitro fertilisation (IVF) for genetic diseases that would generate developmental abnormalities or serious postnatal diseases.<br /> <br /> '''prenatal screening sensitivity''' - (detection rate) The probability of testing positive on a prenatal screening test if the congenital anomaly is present.<br /> <br /> '''prenatal screening specificity''' - The probability of testing negative on a prenatal screening test if the congenital anomaly is absent.<br /> <br /> <br /> ==Glossary Links==<br /> <br /> :[[A|A]] | [[B|B]] | [[C|C]] | [[D|D]] | [[E|E]] | [[F|F]] | [[G|G]] | [[H|H]] | [[I|I]] | [[J|J]] | [[K|K]] | [[L|L]] | [[M|M]] | [[N|N]] | [[O|O]] | [[P|P]] | [[Q|Q]] | [[R|R]] | [[S|S]] | [[T|T]] | [[U|U]] | [[V|V]] | [[W|W]] | [[X|X]] | [[Y|Y]] | [[Z|Z]] | [[Numbers|Numbers]]<br /> <br /> =References=<br /> &lt;references/&gt;<br /> <br /> == 2010 ANAT2341 Group Projects ==<br /> <br /> [[2010_Group_Project_1|Project 1 - Ultrasound]] | [[2010_Group_Project_2|Project 2 - Chorionic villus sampling]] | [[2010_Group_Project_3|Project 3 - Amniocentesis]] | [[2010_Group_Project_4|Group Project 4 - Percutaneous Umbilical Cord Blood Sampling]] | [[2010_Group_Project_5|Project 5 - Fetal Fibronectin]] | [[2010_Group_Project_6|Project 6 - Maternal serum alpha-fetoprotein]] | [[ANAT2341_2010_Students|Students Page]]<br /> <br /> <br /> {{Template:Footer}}<br /> [[Category:2010ANAT2341]] [[Category:Science-Undergraduate]]</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=2010_Group_Project_2&diff=39644 2010-10-06T06:11:52Z

<p>Z3265772: /* Transabdominal vs Transcervical CVS. Comparison of risks */</p> <hr /> <div>[[File:Embryo_11-14_weeks.jpg|right|400 px]]<br /> <br /> ='''Chorionic Villus Sampling (CVS)'''=<br /> <br /> =Introduction=<br /> <br /> [[Image:Gray31.png|thumb|350px|right|Grays]]<br /> <br /> <br /> Chorionic villus sampling or CVS is a type of prenatal diagnosis test performed in the first trimester to detect major fetal abnormalities such as down syndrome, cystic fibrosis and tay-sachs disease, among many others. In the procedure, tissue is withdrawn from small finger like projections on the placenta called chorionic villi and tested for chromosomal defects. It is commonly performed between 10 and 12 weeks of pregnancy. <br /> The advantage of CVS over other procedures is that the result is available approx 6 weeks earlier in the pregnancy, so if a termination is needed, it can be done earlier which is much safer, rather than later in the pregnancy, which can carry more risks. &lt;ref&gt;Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., de, l.C., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Lubs, H.A., Mahoney, M.J., Pergament, E., Simpson, J.L., Carpenter, R.J., Elias, S., Ginsberg, N.A., Goldberg, J.D., Hobbins, J.C., Lynch, L., Shiono, P.H., Wapner, R.J. &amp; Zachary, J.M. 1989, &quot;The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities&quot;, New England Journal of Medicine, vol. 320, no. 10, pp. 609-617.&lt;/ref&gt;<br /> <br /> ''Reasons for getting chorionic villus sampling can include:''<br /> <br /> -History of genetic disorders in the family<br /> <br /> -Parents have already had a child with a disorder such as down syndrome or cystic fibrosis<br /> <br /> -Abnormal ultrasound result<br /> <br /> -Maternal age of 35 or older, which increases the risk of chromosomal defects such as down syndrome<br /> <br /> <br /> =Historic background=<br /> <br /> <br /> '''Brief timeline of CVS use'''<br /> <br /> *1968 - Mohr in Scandinavia introduced the concept of prenatal diagnosis using chorionic villi sampling &lt;ref&gt;&lt;pubmed&gt;5691288&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1973 - Kullander and Sandahl and Hahnemann in 1974 showed further study into chromosomal analysis from CVS &lt;ref&gt;&lt;pubmed&gt;4766093&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1975 - from the Department of Obstetrics and Gynaecology at the Tietung Hospital in Anshan, China was successful in using CVS to determine sex of fetuses for sex pre selection. &lt;ref&gt;&lt;pubmed&gt;811431&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1980 - Kazy et al. were the first to use ultrasound guidance during chorionic villi sampling. &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1981 - Niazi et al. improved methods for culturing of fibroblasts from trophoblast villi. &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1983 - Ward performed transcervical CVS with 67% success rate. In the same year, the Brombati group demonstrated and 96% success rate with obtaining villi with the aid of ultrasound guidance &lt;ref&gt;&lt;pubmed&gt;6463023&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1984 - Smidt-Jensen and Hahnemann introduced transabdominal CVS under ultrasound guidance &lt;ref&gt;&lt;pubmed&gt;4088973&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1986 - The Golbus group had a 3.8% miscarriage rate, and subsequently many other clinics started reporting a much lower rate of miscarriage at 1.7% making the procedure safe for routine use &lt;ref&gt;&lt;pubmed&gt;3717235&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> ===Jan Mohr (1921-2009)===<br /> [[Image:Jan_Mohr.jpg|thumb|200px|left|Jan Mohr]]<br /> <br /> <br /> '''1968 -- Concept of CVS introduced'''<br /> <br /> In 1968 Jan Mohr introduced the concept of prenatal diagnosis using the CVS technique. &lt;ref&gt;&lt;pubmed&gt;5691288&lt;/pubmed&gt;&lt;/ref&gt; He used the transcervical method to get a biopsy of the chorion using an endoscope as the source of vision. The current technique differs by using mostly transabdominal access with ultrasound instead of an endoscope. He reported a 96% success rate in obtaining chorionic material but with a high incidence of bleeding and infection. The approach was abandoned as amniocentesis became more popular due to higher safety levels<br /> <br /> <br /> <br /> '''1973-1975 -- Further study into chromosomal analysis from CVS'''<br /> <br /> Kullander and Sandahl in 1973 and Hahnemann in 1974 further researched fetal chromosome analysis using transcervical biopsy before termination in early pregnancies. &lt;ref&gt;&lt;pubmed&gt;4766093&lt;/pubmed&gt;&lt;/ref&gt; In 1975 the first successful diagnostic use of chorionic villi was reported at the Tietung Hospital in China. &lt;ref&gt;&lt;pubmed&gt;811431&lt;/pubmed&gt;&lt;/ref&gt; This is where fetal sex was diagnosed for the purpose of sex pre-selection. They claimed to have 94% diagnosis success and only 4% miscarriage rate. Researchers in the United States were, however unable to duplicate the results and so the idea of CVS diagnosis was again abandoned for some time.<br /> <br /> <br /> '''1980-1983 -- Change from endoscopic examination to ultrasound to guide CVS'''<br /> <br /> With the invention of the ultrasound and advancement in molecular genetics, an earlier prenatal diagnosis was now sought after. So Kazy et al. in 1980, began using both the endoscope and the ultrasound for fetal sexing on chorion biopsies. This was the first report of using ultrasound guidance during chorion sampling. After Kazy et.al. began using the ultrasound for guidance, many others followed. Niazi et al., Ward and the Brombati group all started using ultrasound guided CVS. Techniques quickly improved and success rate of obtaining chorionic material rose from 75% to 96% &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> '''1984-1986 -- The introduction of transabdominal CVS'''<br /> <br /> In 1984, Smidt-Jensen and Hahnemann in Copenhagen introduced transabdominal CVS using ultrasound guidance. &lt;ref&gt;&lt;pubmed&gt;6463023&lt;/pubmed&gt;&lt;/ref&gt; With less chance of infective complications the procedure has become more popular than the transcervical method in many prenatal diagnostic centers. Other ultrasonic techniques and modifications were explored by the Brambati and Simoni group and the Golbus group in 1985. &lt;ref&gt;&lt;pubmed&gt;4088973&lt;/pubmed&gt;&lt;/ref&gt; The Golbus group reported in 1986 a miscarriage rate of 3.8%. &lt;ref&gt;&lt;pubmed&gt;3717235&lt;/pubmed&gt;&lt;/ref&gt; Subsequently, many other centres reported a much lower miscarriage rate of 1.5% which made the procedure safe for routine use.<br /> <br /> ==Table Comparing Prenatal Diagnosis Techniques==<br /> <br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ This table shows invasiveness and timeframe for some prenatal diagnostic techniques<br /> ! Invasiveness !! Diagnostic technique !! Comments !! Time that procedure can be performed !! Diagram<br /> |-<br /> |Non Invasive<br /> |[[2010_Group_Project_1|Ultrasound]]<br /> |'''Tests for:''' neural tube defects, chromosomal abnormalities and congenital heart abnormalities<br /> <br /> '''Risks:''' No risks currently indicated for ultrasound use in prenatal diagnosis. <br /> <br /> This test uses high frequency sound waves through a transmitting device, which construct a picture of the fetus when the waves are reflected and received back by the transmitter. Due to no known risks, ultrasound use is used routinely in pregnancies and is the first port of call for prenatal diagnosis. If a potential abnormality is found or the parents are high risk, then a more invasive diagnostic technique may be recommended. The type of diagnostic technique used depends on the potential abnormality found. &lt;ref&gt;Kremkali, F.W. (2006) Diagnostic Ultrasound Principles and Instruments (7th ed.) St Louis: Saunders Elsevier. pp3-5&lt;/ref&gt;[[2010_Group_Project_1|More about Ultrasound]]<br /> |Weeks 18-20<br /> |[[File:ZConvex_Array_Transducer.jpg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> |'''Tests for:''' chromosomal abnormalities and genetic abnormalities <br /> <br /> '''Risks:''' Miscarriage (1%), some of the side effects include dizziness, abdominal discomfort, cramping, haemorrhage, infection, ruptured amniotic sac, increased risk of limb defects if the test was performed at nine weeks’ gestation or earlier &lt;ref&gt;Alfirevic, Z., K. Sundberg, et al. 2008. &quot;Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review).&quot; Cochrane Database of Systematic Reviews 4: 1-134.&lt;/ref&gt;<br /> <br /> With the guidance of Ultrasound, a needle is inserted in to the abdomen or through the cervix and a small sample of chorionic villi from the placenta are obtained. This sample is sent to a cytogenetics laboratory where the cells are cultured and stained, and photographed to view chromosomes <br /> |Weeks 10-12<br /> |[[File:Transabdominal_CVS.jpg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_3|Amniocentesis ]] <br /> |'''Tests for:''' chromosomal abnormalities, fetal infections, and genetic abnormalities<br /> <br /> '''Risks:''' Miscarriage &lt;1%, stillbirths 3%, and small risk of infection. &lt;ref&gt;&lt;pubmed&gt;PMC2464303&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> A needle is inserted in to the uterus where a sample of the amniotic fluid surrounding the fetus is taken. This procedure is usually done with the guidance of ultrasound so the physician can see where the needle is being inserted. The amniotic fluid is analysed for abnormalities. [[2010_Group_Project_3|More about Amniocentesis ]]<br /> |Weeks 15-16<br /> |[[File:Process_of_amniocentesis.jpeg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_4|Percutaneous Umbilical Cord Blood Sampling]]<br /> |'''Tests for:'''chromosomal abnormalities, blood disorders, some metabolic disorders, fetal infections, and some causes of structural problems.<br /> <br /> '''Risks:'''Miscarriage &lt;2%, Preterm labour, fetal bradycardia, bleeding of the umbilical cord. &lt;ref&gt;&lt;pubmed&gt;16530195&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> A small needle is inserted in to the abdomen of the mother and a sample of blood is taken from the umbilical vein in the umbilical cord. This technique is often used when other diagnostic techniques are inconclusive, but should be used with caution as carries higher risk rates. The benefit of Percutaneous Umbilical Cord Blood Sampling is that the results are available much faster, within 72 hours of testing. CVS and amniocentesis tests need culturing and therefore take up to 11 days for a result. [[2010_Group_Project_4|More about Percutaneous Umbilical Cord Blood Sampling]]<br /> |Weeks 18-22<br /> |[[File:Placenta_Anterior.jpg|right|150 px]]<br /> |-<br /> |Less Invasive<br /> |[[2010_Group_Project_5|Fetal Fibronectin]]<br /> |'''Tests for:'''determines the likelihood of premature birth in women of high risk<br /> <br /> '''Risks:'''No known risks for the testing of Fetal Fibronectin, as is it less invasive than other techniques.<br /> <br /> Fetal Fibronectin is only found in the uterus until the onset of labour when is secretes in through the cervix. In this procedure, a sample of the cervico-vaginal secretions are taken and sent to the lab for testing. If the test comes out positive for Fetal Fibronectin in the vagina, the mother has a chance of going into premature labour. [[2010_Group_Project_5|More about Fetal Fibronectin]]<br /> |Weeks 24-34<br /> |[[File:FetalFN.jpg|right|150 px]]<br /> |-<br /> |Non Invasive<br /> |[[2010_Group_Project_6|Maternal serum alpha-fetoprotein]]<br /> |'''Tests for:'''AFP is a type of screening test and do not diagnose problems, but signal whether further testing is needed. Normal AFP levels are increased in Neural Tube Defects and Omphalocoele &amp; decreased in Down Syndrome.<br /> <br /> '''Risks:'''No known risks as Maternal serum alpha-fetoprotein is non invasive<br /> <br /> A blood sample is taken from the mother and alpha-fetoprotein levels are measured in the lab. These measurements can determine the risk level of certain abnormalities in the fetus. The advantage is that it is non invasive, but the disadvantage is that it has a very high false positive rate, so many mothers have gone on to have amniocentesis or chorionic villus sampling to find nothing is wrong with the baby. This can be overcome by having another alpha-fetoprotein test before getting amniocentesis or chorionic villus sampling. [[2010_Group_Project_6|More about Maternal serum alpha-fetoprotein]]<br /> |Weeks 15-20<br /> |[[File:Enzyme_immunoassay.jpg|right|150 px]]<br /> |-<br /> |}<br /> <br /> =Description of technique=<br /> [[File:Gray37.png|right|thumb|280px|Sample is taken from the chorionic villi]]<br /> [[File:transabdominal_CVS.jpg|right|thumb|280px|Transabdominal Technique]]<br /> [[File:transcervicalCVS.jpg|right|thumb|280px|Transcervical Technique]]<br /> <br /> The CVS procedure involves taking a sample of the chorion frondosum — the part of the chorionic membrane containing the villi. Between 10-12 weeks of pregnancy, the developing gestational sac is composed of a thick, outer chorionic membrane surrounding the amniotic cavity, a thin amniotic membrane and the chorionic cavity. The chorionic villi have now degenerated over most of the outer membrane, forming the chorion laeve, and the remaining villi fuses and embeds loosely into the decidua basalis. This forms the chorion frondosum, which will ultimately become the placenta. At this stage, the villi float freely in the blood of the intervillus space. Each villi is branched, and is composed of an outer syncytiotrophoblast and an inner cytotrophoblast layer. Within the centre of each villus is a mesenchymal core which contain capillaries carrying fetal blood. In CVS, usually samples of both cells lines (cytotrophoblasts and mesenchymal cells) are obtained. Chromosomal analysis of these cell lines can be performed by means of direct preparations, short-term cultures (cytotrophoblasts), or long-term cultures (mesenchymal cells) of the chorionic villi.&lt;ref&gt;Jenkins, T.M, Wapner, R.J, 1999. First trimester prenatal diagnosis: Chorionic villus sampling. Seminars in Perinatology. pp403-413.&lt;/ref&gt; <br /> <br /> CVS can be performed in two ways, through the cervix (transcervical) or through the abdomen (transabdominal). Both techniques are equally safe when performed by an experienced technician, however miscarriage rates are somewhat higher when done through the cervix. Prior to the procedure, an abdominal ultrasound can be performed to locate the position of the uterus, and the placenta. A full bladder is not required. Depending on the type of method performed, the vulva, vagina, cervix or abdomen are cleaned with antiseptic. The procedure normally takes only 1-2 minutes to perform and the patient is able to leave the clinic within the hour after the fetus is checked.&lt;ref&gt;Melbourne Ultrasound for Women. Chorionic Villus Sampling. Accessed 5 September 2010. http://www.nevdgp.org.au/info/melb_us/cvs_melb.htm&lt;/ref&gt; <br /> <br /> ===Transabdominal Procedure===<br /> <br /> # A local anaesthetic is first applied to the abdomen.&lt;br&gt;<br /> # A thin hollow needle is then inserted through the abdomen into the uterus and into the edge of the placenta where the chorion is located. An ultrasound transducer is commonly used to guide the needle during the procedure. &lt;br&gt;<br /> # A finer syringe needle is then passed through the outer needle, and the tissue is then drawn.&lt;br&gt;<br /> # The sample is taken to the laboratory for testing. <br /> <br /> ===Transcervical Procedure===<br /> # A speculum is inserted in the vagina and the area is cleaned with antiseptic.&lt;br&gt;<br /> # With the help of ultrasound imaging, a thin cannula is then inserted through the cervix and uterus and into the placenta.&lt;br&gt;<br /> #The tissue sample is then taken up through the cannula.&lt;br&gt;<br /> &lt;ref&gt;&lt;pubmed&gt;20154617&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> After the sample is taken to the laboratory, the cells are grown until there are enough cells for chromosome testing. The results normally take up to 2 weeks to complete.<br /> <br /> ===Complications===<br /> <br /> Some of the side effects and complications after a CVS procedure can include:<br /> <br /> * Dizziness <br /> * Abdominal discomfort<br /> * Cramping<br /> * Haemorrhage<br /> * Infection<br /> * Ruptured amniotic sac<br /> * Increased risk of limb defects if the test was performed at nine weeks’ gestation or earlier<br /> * Premature delivery<br /> &lt;ref&gt;Alfirevic, Z., K. Sundberg, et al. 2008. &quot;Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review).&quot; Cochrane Database of Systematic Reviews 4: 1-134.&lt;/ref&gt;<br /> <br /> Additional complications can involve technical errors such as failure of the specimen to grow sufficiently in the laboratory and uncertain laboratory results. If this occurs, amniocentesis is still an option after 15 weeks.<br /> <br /> ===Results and Accuracy===<br /> <br /> The accuracy of CVS to detect chromosome abnormalities is quite high, at around 98-99% &lt;ref&gt;Hall, Judith G. &quot;Chromosomal Clinical Abnormalities.&quot; In Nelson Textbook of Pediatrics. Edited by Richard E. Behrman et al. Philadelphia: Saunders, 2004.&lt;/ref&gt;. Although it has a high accuracy rate to diagnose most major chromosomal problems, CVS does have some limitations. Having a negative result for an abnormality does not rule out ALL genetic defects the baby may have. Comparatively to amniocentesis, CVS does NOT detect neural tube defects such as spina bifida, or anencephaly. <br /> The type of chromosome abnormalities detected by CVS will be further discussed in detail below.<br /> <br /> ===Limitations===<br /> [[file:Double_tetrasomy_18_mosaicism.jpg‎|thumb|250 px|Example of a child with double tetrasomy 18+ mosaicism.]]<br /> <br /> '''Maternal contamination'''<br /> <br /> Since the villus sample also involves maternal cells, there is a possibility that they may take over the laboratory culture instead, consequently leading to the mother's cells being tested instead of the fetus's cells. The risk of this happening is low however and is decreased when the sample contains an adequate amount of fetal cells.<br /> <br /> <br /> '''Mosaicism'''<br /> <br /> &quot;Mosaicism&quot; occurs when both abnormal and normal cells are found in the chorionic villi. Mosaicism can involve both the fetus (true fetal mosaicism) and the placental tissues or the placental tissues alone. When this happens, cells that multiply from these abnormal cells may develop a chromosome anomaly.<br /> What can result is that in certain body organs the fetus has a combination of cells that are abnormal and normal in genetic structure. <br /> The rate of the placental type occuring is found in 1-2% of pregnancies detected by CVS.&lt;ref&gt;&lt;pubmed&gt;9316125&lt;/pubmed&gt;&lt;/ref&gt; When mosaicism is detected by CVS, the limitation lies in the inability to conclude that the baby itself and not just the placental tissues will share the mosaicism. Even if the baby is affected, it will be unclear as to what percentage of the fetal cells and the type of organs that will be affected.&lt;ref&gt;Trofatter. K.F. 2008. Chromosomal Mosaicism Detected at the Time of Chorionic Villus Sampling. Accessed on 15 September 2010. http://www.healthline.com/blogs/pregnancy_childbirth/2008/03/chromosomal-mosaicism-detected-at-time.html&lt;/ref&gt;<br /> <br /> =Risks=<br /> <br /> <br /> When Chorionic Villus Sampling is performed, a small sample of the placenta is removed for analysis. The placenta contains fetal material, therefore can reveal genetic defects which may lead to problems or abnormalities. &lt;ref&gt;&lt;pubmed&gt;20664398&lt;/pubmed&gt;&lt;/ref&gt; This prenatal test can be performed as early as 11 weeks into the pregnancy, this is earlier than many prenatal diagnosis tests, which is why many parents choose CVS as they can have solid information earlier in the pregnancy. Some common risks which are not under current research include: Cramping, light blood spotting, pain, fever and chills, leakage (which can be a major concern as it can lower amniotic fluid to a dangerous level for the infant), and potential for missing fingers and toes in the newborn. For this reason, the procedure is only recommended for women who are at least 11 weeks pregnant. &lt;ref&gt;&lt;pubmed&gt;20051662&lt;/pubmed&gt;&lt;/ref&gt; The other major risks that are currently being researched are outlined below<br /> <br /> ====Transabdominal vs Transcervical CVS. Comparison of risks====<br /> <br /> <br /> [[File:CVS_Table.jpg|left|thumb|280px|Transabdominal vs Transcervical risks]]<br /> <br /> This table shows the symptoms of women approximately 3 days after sampling. Women who had transcervical sampling had higher occurrence of fluid leakage and spotting. When a tenaculum is not used, the occurrence of vaginal spotting and bleeding continued. &lt;ref&gt;Jackson, L.G., Zachary, J.M., Fowler, S.E., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Mahoney, M.J., Pergament, E., Simpson, J.L., Black, S. &amp; Wapner, R.J. 1992, &quot;A Randomized Comparison of Transcervical and Transabdominal Chorionic-Villus Sampling&quot;, New England Journal of Medicine, vol. 327, no. 9, pp. 594-598.&lt;/ref&gt;<br /> <br /> ====Miscarriage====<br /> <br /> One of the biggest risks of Chorionic Villus Sampling is miscarriage. In one to 100 or 200 cases, the procedure is linked with miscarriage. &lt;ref&gt;&lt;pubmed&gt;19155918&lt;/pubmed&gt;&lt;/ref&gt; In an experienced clinic, this rate may go down to one in 300 to 400. To lower the risk of miscarriage with Chorionic Villus Sampling, it is recommended the procedure be performed by an experienced clinician<br /> <br /> <br /> ====Oligohydramnios====<br /> <br /> Oligohydramnios is a condition due to low amniotic fluid level, which is caused by amniotic fluid leakage. Amniotic fluid leakage is typically caused by fetal urinary tract abnormalities such as Potter's syndrome, polycystic kidneys, or genitourinary obstruction. But leakage can sometimes be caused by sampling of the chorionic villi due to insertion of the needle. If the resulting oligohydramnios is not treated and the amniotic fluid continues to leak it can result in the baby developing hypoplastic lungs (underdeveloped lungs). &lt;ref&gt;&lt;pubmed&gt;17694578&lt;/pubmed&gt;&lt;/ref&gt;&lt;br&gt;&lt;br&gt;<br /> <br /> <br /> '''Why would you use CVS over other techniques?'''<br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ Advantages and Disadvantages of Chorionic Villus Sampling<br /> ! Advantages !! Disadvantages <br /> |-<br /> |Can be performed earlier in pregnancy than amniocentesis (at around ten weeks).<br /> <br /> Results are available faster<br /> <br /> Cells obtained are mitotically active<br /> <br /> Amount of tissue obtained is preferable for DNA analysis.<br /> <br /> It is almost 100% reliable in detecting chromosomal and genetic defects.<br /> |It carries a slightly higher risk of miscarriage (1%-2%) than does amniocentesis<br /> <br /> It's less commonly available than amniocentesis, and fewer doctors are experienced in the procedure.<br /> <br /> It entails a greater risk of distorted results than does amniocentesis due to presence of mother's cells in the sample and discrepancies between chorionic villi and fetal genes.<br /> <br /> Metabolic disorders are difficult to diagnose and must be confirmed with amniocentesis.<br /> <br /> Because of the early gestational age at which the test is performed, fetal anatomy cannot be seen as well as it can at the time amniocentesis is performed.<br /> |-<br /> |}<br /> &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt;<br /> <br /> =Abnormalities found by CVS prenatal diagnostic technique=<br /> <br /> [[File:Down-normal.gif|right|thumb|280px|Normal]]<br /> <br /> [[File:Down-extra.gif|right|thumb|280px|third copy of chromosome 21]]<br /> <br /> The cells collected by CVS are sent to a cytogenetics laboratory. There the cells are cultured (stimulated to grow and divide) for 10-14 days. After enough cells are obtained, a banded karyotype is performed. This means that the fetal chromosomes in the cultured cells are stained and subsequently photographed. The photographed chromosomes are then ordered by number, counted and checked for structural abnormalities. There should be 46 chromosomes, 23 pairs. A boy's karyotype is described as 46,XY and a girl's karyotype is described as 46,XX.&lt;ref&gt;Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., de, l.C., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Lubs, H.A., Mahoney, M.J., Pergament, E., Simpson, J.L., Carpenter, R.J., Elias, S., Ginsberg, N.A., Goldberg, J.D., Hobbins, J.C., Lynch, L., Shiono, P.H., Wapner, R.J. &amp; Zachary, J.M. 1989, &quot;The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities&quot;, New England Journal of Medicine, vol. 320, no. 10, pp. 609-617. &lt;/ref&gt;<br /> <br /> <br /> <br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ This table shows what disorders CVS detects, the cause, frequency and any comments<br /> ! Disorder !! Cause !! Comments !! Frequency !! Picture <br /> |-<br /> |[[ Trisomy 21 | Down Syndrome ]]<br /> |A third copy of chromosome 21<br /> <br /> Normally, there are only two copies of this chromosome<br /> |The average IQ of children with Down syndrome is around 50, compared to normal children with an IQ of 100. Complications for people with down syndrome include: congenital heart defects, gastroesophageal reflux disease, recurrent ear infections, obstructive sleep apnea, and thyroid dysfunctions. &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt; The picture shows a newborn infant with Down Syndrome (Trisome 21)<br /> |Approximately 1 in 1,000 births &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt;<br /> |[[File:Trisomy_21_newborn.jpg|right|200 px]]<br /> |-<br /> |[[ Trisomy 13 | Trisomy 13 ]]<br /> |A third copy of chromosome 13<br /> <br /> Normally, there are only two copies of this chromosome<br /> |Also called Patau syndrome. This abnormality causes mental and motor abnormalities, polydactyly (extra digits), kidney defects, abnormal genitalia and heart defects, among many others. &lt;ref&gt;Driscoll, D.A. &amp; Gross, S. 2009, &quot;Prenatal Screening for Aneuploidy&quot;, New England Journal of Medicine, vol. 360, no. 24, pp. 2556-2562. &lt;/ref&gt; The picture shows an infant with polydactyly, a potential complication of Trisome 13<br /> |Less than 1% <br /> |[[File:220px-Patauhand.PNG|right|200 px]]<br /> |-<br /> |[[ Trisomy 18 | Trisomy 18 ]]<br /> |A third copy of chromosome 18<br /> <br /> Normally, there are only two copies of this chromosome<br /> |Also known as Edwards syndrome. It has a very low survival rate, due to: kidney and heart defects, intestines protruding outside the body, mental abnormalities, growth disorders, feeding and breathing difficulties. &lt;ref&gt;Driscoll, D.A. &amp; Gross, S. 2009, &quot;Prenatal Screening for Aneuploidy&quot;, New England Journal of Medicine, vol. 360, no. 24, pp. 2556-2562. &lt;/ref&gt; The picture shows a clenched hand and overlapping fingers: index finger overlaps third finger and fifth finger overlaps fourth finger, characteristically seen in Trisomy 18.<br /> |1 in 3,000 conceptions and approximately 1 in 6,000 live births <br /> |[[File:200px-Overlapping_fingers.JPG|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Cystic_fibrosis Cystic Fibrosis]<br /> |A mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR) in chromosome 7.<br /> |An autosomal recessive disease that causes excessive sticky mucous to form on mucosal surfaces effecting the digestive and respiratory organs. &lt;ref&gt;Levison, J.H., Barbieri, R.L., Katz, J.T. &amp; Loscalzo, J. 2010, &quot;Hard to Conceive&quot;, New England Journal of Medicine, vol. 363, no. 10, pp. 965-970. &lt;/ref&gt; The picture shows clubbing of the fingers in a person with cystic fibrosis<br /> |Approx 1 in 3,000 <br /> |[[File:220px-ClubbingCF.JPG|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Hemoglobinopathy Hemoglobinopathy]<br /> |Structural abnormalities in the globin proteins <br /> |Multiple types of abnormal haemoglobins exist including Haemoglobin S, C E and D that alter the structure of these proteins. A common defect is sickle cell disease.&lt;ref&gt;Abboud, M.R. 2009, &quot;Hematopoietic Stem-Cell Transplantation for Adults with Sickle Cell Disease&quot;, New England Journal of Medicine, vol. 361, no. 24, pp. 2380-2381. &lt;/ref&gt;<br /> |Hemoglobinopathies are a genetic defect and therefore an inherited disorder, frequency depends on which particular hemoglobinopathy is being discussed, eg. in the case of Sickle cell disease, it is estimated that 7% of worlds population are carriers<br /> |[[File:Series_10-09.jpg|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease Tay Sachs Disease]<br /> |mutations on chromosome 15 in the HEXA gene <br /> |It is a rare autosomal recessive defect inherited from parents that are carriers for the disease. Affected individuals suffer from premature nerve cells death in the brain. &lt;ref&gt;&lt;pubmed&gt;20100466&lt;/pubmed&gt;&lt;/ref&gt;<br /> |Approx 1 in 300 are carriers<br /> |[[File:220px-Autorecessive.svg.png|right|200 px]]<br /> |-<br /> |}<br /> <br /> =Outcomes=<br /> <br /> Since CVS is able to detect a variety of chromosome abnormalities, there is a chance that the baby may be affected with a defect. If the test results are normal however, this does not exclude other congenital defects and neural tube defects that can occur that can be detected by other prenatal diagnosis methods. IF the test result is positive and a defect is detected by CVS, the mother has several options available. One is to terminate the pregnancy and the other is to seek treatment after the baby is born. If the mother chooses to terminate the pregnancy, doctors have a responsibility to educate the mother and offer counseling.<br /> <br /> Doctors should:<br /> <br /> *Give parents information about the defect so that they can be prepared.<br /> *Talk to parents about the baby's predicted quality of life.<br /> *Should explain any procedures that will be done to the baby after he is born.<br /> *Doctors should do their best to tell parents what the problem is and how serious it is.<br /> <br /> Abortion is the termination of pregnancy, with the removal of the fetus and placenta from the uterus. In Australia, abortion laws vary by state and usually allow this up to a range of about 12 - 20 weeks into the pregnancy, on the grounds of fetal abnormalities, endangerment of the mother and other socio-economic factors.&lt;ref&gt;Cica. N., 1998. Abortion Law in Australia. Parliament of Australia, Parliamentary Library. Accessed September 29. 2010. &lt;http://www.aph.gov.au/library/pubs/rp/1998-99/99rp01.htm&gt;&lt;/ref&gt; If the mother chooses to terminate the pregnancy, counselling is usually done to make sure the parents understand the issues and ethics surrounding abortion.<br /> There are currently two ways to perform an abortion:<br /> <br /> '''Surgical abortion -''' Also called suction aspiration, or suction currette, this is the most common procedure used for first trimester abortion(up to 12 weeks) The cervix is dilated, and a tube is inserted through the cervix and a suction removes the fetus and the placenta. A curette is then used to scrape the wall of the uterus to ensure any remains are not left inside. If later in pregnancy, other surgical techniques are used. <br /> <br /> '''Medical abortion -''' ''(Note: Not applicable in this case due to CVS being performed at 10-12 weeks.)''This involves administration of a drug called mifepristone (RU486). Available for abortions earlier than 2-9 weeks, it is a low-risk and effective method instead of the surgical method earlier in pregnancy. Usage of the drug is available in many countries but is currently restricted in Australia.<br /> <br /> ===Treatment===<br /> <br /> If the mother decides to continue on with the pregnancy, treatment options are necessary for the baby after birth to maintain the health and symptoms associated with a defect. Some of these management options for some of the defects will be discussed below. <br /> <br /> '''Down Syndrome'''<br /> <br /> Treatment and therapies for Down syndrome available include the physical, medical and cognitive problems associated with Down Syndrome. Medical treatment such as surgery or medications, while early intervention programs and therapies help babies and children achieve better quality of life. For example, children with Down Syndrome have a higher risk for having many conditions such as congenital heart defects, problems with the thyroid, muscles, joint, vision and hearing problems. Medications can be used to treat these different problems, such as if the thyroid is affected, a child will benefit from taking thyroid replacement hormones. Medications aim to control the symptoms and reduce the impact the condition will have on the baby. There is no medication that can cure chromosome abnormalities. Some individuals affected with cardiac and gastrointestinal problems may also need surgery soon after birth. Regular screening for vision problems, hearing, hypothyroidism, and other medical conditions should be performed.<br /> <br /> Cognitive development can be assisted with physiotherapy and speech therapy for example. Since children with Down Syndrome can have speech problems due to their relatively small mouths and large tongue, speech therapy can help the child to communicate properly. Physical therapy is often needed since individuals with Down Syndrome have hypotonia (low muscle tone)which needs to be improved by developing motor skills.<br /> <br /> '''Trisomy 13'''<br /> <br /> Since Trisomy 13 causes a range of serious complications like congenital heart disease and brain and spinal cord abnormalities, the survival rate is low, with a median survival time of 2.5 days. &lt;ref&gt;&lt;pubmed&gt;11310997&lt;/pubmed&gt;&lt;/ref&gt; Treatment is usually directed towards the specific symptoms that are present in the affected child, which differs to each individual. In some cases, treatment may include surgical procedures to correct cleft lip and palate, or surgery to correct heart defects. This will depend upon the severity and nature of the abnormalities and symptoms.&lt;Ref&gt;Stewart, K. B., 2007. Trisomy 13 - Patau Syndrome. [Fact sheet] Centre for Genetics Education. Accessed 29 September, 2010. &lt;http://www.genetics.com.au/pdf/factsheets/fs29.pdf&gt;&lt;/ref&gt;<br /> <br /> '''Cystic fibrosis'''<br /> <br /> There is currently no cure for cystic fibrosis, but various treatment methods can manage the symptoms of lung and digestive problems, liver and gallbladder diseases and infertility. Digestive problems can be corrected by having a diet that is low in fat and high in protein, with vitamin supplements. Regular antibiotics are prescribed to prevent and to treat lung infections, and mucolytics are needed to make the mucous less sticky. Other methods to dislodge and remove mucous is manual chest physiotherapy, where it consists of bronchial drainage done manually or mechanically. Manual drainage can be done by performing controlled breathing techniques or the chest is vibrated or clapped to dislodge the mucous out of the airways. &lt;ref&gt;&lt;pubmed&gt;18079549&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> '''Tay-sachs disease'''<br /> <br /> The prognosis for babies with the condition is usually poor, with children living to the age of 4-5.&lt;ref&gt;National Institute of Neurological Disorders and Stroke. 2007. Tay-Sachs Disease Information Page. Accessed September 29, 2010. &lt;http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm&gt;&lt;/ref&gt; Therefore treatment for Tay-sachs disease is usually to help alleviate symptoms associated with the disease. Spasticity and siezures can be helped by administering anticonvulsants, while other supportive methods include respiratory care to keep the airway open and proper nutrition and hydration.<br /> <br /> =Ethical concerns=<br /> <br /> =Current associated research=<br /> <br /> Chorionic Villus Sampling (CVS) is one of many prenatal diagnostic tools for expectant mothers, it is popular since it can be used to identify potential problems with a fetus at a very early stage. However, the procedure does carry some risks, as does any invasive diagnostic procedure. As chorionic villus sampling is a relatively new technique, made available for safe routine use only 20 years ago, the current associated research is mainly associated with risks associated with the procedure, and ways to overcome these risks. The next section in this page will discuss the current research on CVS and the risks involved in the procedure, and not what the test results may find. <br /> <br /> ====Hypertensive disorders of pregnancy====<br /> <br /> Hypertension, or high blood pressure, is a condition where systemic arterial blood presssure is elevated. Hypertension is one of the most common medical problem during pregnancy, affecting about 2-3% of pregnancies.&lt;ref&gt;Gibson, P., Carson, M.P, 2010. Hypertension and Pregnancy. Accessed 29 September, 2010. &lt;http://emedicine.medscape.com/article/261435-overview&gt;&lt;/ref&gt;<br /> Pregnancy induced hypertension is a condition that can occur during and after the 20th week of pregnancy. The types of hypertensive disorders can include:<br /> <br /> [[File:Enamel_Hypoplasia_Due_to_Maternal_Toxemia.jpg|thumb|200px|right|Enamel hypoplasia due to maternal toxemia]]<br /> <br /> *Pre-eclampsia or toxemia – Characterised as high blood pressure above 140/90 with proteinuria (protein in the urine that is above 300mg)<br /> * Eclampsia - Developed in a pregnant woman who has had pre-eclampsia and is characterised by seizures <br /> * Gestational hypertension – arterial hypertension that occurs after the 20th week of gestation <br /> <br /> If untreated, the condition may develop into HELLP syndrome which is a serious complication noted by hemolytic aneamia, elevated liver enzymes and a low platelet count. <br /> <br /> <br /> There has been conflicting evidence in literature that suggests that CVS is associated with hypertensive disorders in pregnancy such as pre-clampsia and gestational hypertension. In several studies, such as data from the National Institute of Health that compared late CVS procedures with early amniocentesis, showed a higher rite of gestational hypertension and preeclampsia in pregnant mothers.&lt;ref&gt;&lt;pubmed&gt;15738029&lt;/pubmed&gt;&lt;/ref&gt; (5.4% for mothers who had CVS and 3.5% that had amniocentesis.) It was hypothesized that disruption and disturbance of the placenta at 13-14 weeks may increase the risk of maternal hypertension. In addition, another recent study in 2006 also reported that there was an increase in the rate of pre-clampsia in first-time expectant mothers who have had CVS.&lt;ref&gt;&lt;pubmed&gt;19455602&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> However, in a very recent data investigation of among 9098 women that were pregnant between 1990 and 2006, the overall incidence of hypertensive disorders with women who have had CVS was 2.7% compared to the control group that did not have the procedure done which was 7.1%.&lt;ref&gt;&lt;pubmed&gt;19918960&lt;/pubmed&gt;&lt;/ref&gt; Similarly, in a study conducted by The American College of Obstetricians and Gynecologists,&lt;ref&gt;&lt;pubmed&gt;20664398&lt;/pubmed&gt;&lt;/ref&gt; 31, 138 women were that were included in the investigation showed that 2.2% developed preeclampsia and 2.8% developed gestation hypertension. Only 7.8% of those individuals had previously had CVS procedure performed. <br /> <br /> Although it can be said that some woman may develop hypertensive disorders during pregnancy that have also had the CVS procedure done in the past, there is no conclusive evidence so far that definitively associates CVS with hypertensive disorders such as pre-clampsia and gestation hypertension.<br /> <br /> ====Malformations====<br /> [[File:Craniosynostosis_.jpg|right|250 px]]<br /> <br /> <br /> Many malformations were thought to be a result of more invasive prenatal diagnostic techniques such as chorionic villus sampling. These malformations include, but are not limited to, cardiac malformations, hypospadias, craniosynostosis, pyloric stenosis, inguinal hernia, polydactyly, syndactyly, hydrocephalus and cleft lip and palate. Although these studies have now confirmed no known relationship with CVS, we will mention some below. &lt;ref&gt;&lt;pubmed&gt;7937577&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> '''Craniosynostosis''' is a condition where one of the sutures of the skull prematurely fuses, this causes the other sutures to compensate in growth for the fused suture. In normal development of the skull, the sutures allow for brain growth, so if one suture fuses prematurely, the brain can not grow normally, and the other sutures over expand in compensation. In the shown image, pictures a1 and a2 show the normal development and fusing of the infant skull. b2 shows how a suture is prematurely fused and b1 shows how the abnormality shows in an infant child.<br /> Craniosyntosis may result in increased pressure on the brain and developmental delays. Treatment of craniosynostosis usually consists of surgery to the skull where a zigzag incision is made to make the hair look more natural than the scar left by a straight incision. The surgery separates the sutures that have joined together to allow the head to develop normally.<br /> <br /> &lt;ref&gt;Silver, R.K., Macgregor, S.N., Muhlbach, L.H., Knutel, T.A. &amp; Kambich, M.P. 1994, &quot;Congenital malformations subsequent to chorionic villus sampling: Outcome analysis of 1048 consecutive procedures&quot;, Prenatal diagnosis, vol. 14, no. 6, pp. 421-427. &lt;/ref&gt;<br /> <br /> [[File:Polydactyly.jpg|left|200 px]]<br /> '''Polydactyly''' is a congenital condition where an extra digit is formed. Mostly it occurs on only one hand or foot, but sometimes can occur on all limbs. The extra digit is mostly a small non-function appendage of skin, less often it is an extension of the adjacent digit, and rarely it is a fully functioning finger that arises from the wrist or ankle joint like the other digits. Polydactyly can be described as: <br /> <br /> ● postaxial polydactyly (arising from the little finger)<br /> <br /> ● preaxial polydactyly (arising from the thumb) or<br /> <br /> ● central polydactyly (arising from anywhere between the other digits)<br /> <br /> Polydactyly is seen in 1 in every 500 births, but the extra digit is usually surgically removed shortly after birth<br /> &lt;ref&gt;&lt;pubmed&gt;20661588&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> [[File:Syndactyly2.JPG|left|200 px]]<br /> '''Syndactyly''' is also a congenital condition, but is seen when digits are fused together. Syndactyly can be described as:<br /> <br /> ● simple syndactyly (where only skin is fused to the adjacent finger)<br /> <br /> ● complex syndactyly (where the bone is fused together)<br /> <br /> ● incomplete syndactyly (where fusion is only part of the way up the digit), and,<br /> <br /> ● complete syndactyly (where fusion is to the tip of the digit)<br /> <br /> The picture on the left shows an example of polysyndactyly, where the digits are both fused, and there is an extra digit.<br /> &lt;ref&gt;&lt;pubmed&gt;20811188&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> <br /> <br /> <br /> <br /> ====Hemangiomas====<br /> <br /> [[File:Capillary_haemangioma.jpg|thumb|200px|right|Hemangioma]]<br /> <br /> A hemangioma is a benign tumour growth of endothelial cells that can occur in newborns and infants. Hemangiomas can occur anywhere in the body but are often localised on the skin of the face and neck, and are characterised by a red to reddish purple raised lesion on the skin, similarly to a &quot;strawberry&quot; like appearance. Its red appearance is due to the newly formed blood vessels, which result from the malformation of angioblastic tissues of fetal life.&lt;ref&gt;&lt;pubmed&gt;7063565&lt;/pubmed&gt;&lt;/ref&gt; <br /> Most hemangiomas do not cause any serious complications, and regress later on in life, where 90% of hemangiomas in children would disappear by the age of 9. <br /> <br /> Recently, research has linked the increase in the incidence of hemangiomas in infants following CVS. It has been postulated that the mechanism of hemangioma formation is associated with the embolisation of angioblasts or endothelial cells from the placenta to the fetal skin.&lt;ref&gt;&lt;pubmed&gt;19218861&lt;/pubmed&gt;&lt;/ref&gt; Although this may link hemangiomas to placental origin, it is unclear how, or whether CVS directly interferes or enhances the formation of these lesions. However, a recent study that compared the effects of CVS and amniocentesis on the prevalence of hemangiomas in infants showed that 27% of the study group had hemangiomas with CVS compared to 9.4% in children with hemangiomas and amniocentesis. &lt;ref&gt;&lt;pubmed&gt;20824891&lt;/pubmed&gt;&lt;/ref&gt; Furthermore, in an previous study conducted in 1995, there was a threefold increase in incidence after trancervical procedure was done, compared to amniocentesis.&lt;ref&gt;Lo, K., Mihm, M. &amp; Fay, A. 2009, &quot;Current Theories on the Pathogenesis of Infantile Hemangioma&quot;, Seminars in ophthalmology, vol. 24, no. 3, pp. 172-177. &lt;/ref&gt;&lt;ref&gt;&lt;pubmed&gt;7784377&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> =Future of Chorionic Villus Sampling and Prenatal diagnosis techniques=<br /> <br /> [[File:FISH_(technique).gif‎|thumb|250 px|FISH technique]]<br /> <br /> [[File:Comparative_Genomics.jpg|thumb|250 px|Comparative Genomics]]<br /> <br /> Prenatal diagnosis has been used to detect chromosomal abnormalities, especially Down’s syndrome, for over 30 years. As we have discussed on this page, the most common forms of prenatal diagnosis are amniocentesis, CVS and ultrasound. The type of test used depends on the history of the parents, any abnormalities detected in the initial ultrasound examination, and preferences of the parents. Testing for chromosomal abnormalities using amniocentesis and CVS is invasive and somewhat time consuming. Some recent advancements in this field include the use of fluorescence in situ hybridisation (FISH), quantitative fluorescence-PCR techniques, and comparative genomics. Although these techniques are currently still invasive, the waiting time for these tests is usually only 1 to 2 days for chromosomal abnormalities. &lt;ref&gt;&lt;pubmed&gt;20014413&lt;/pubmed&gt;&lt;/ref&gt; This waiting time would mean a much less stressful waiting period for the parents. The future of prenatal diagnosis certainly lies in the field of non invasive techniques, and research in the field of prenatal diagnosis is looking toward making detection of abnormalities non invasive, using the fetal cells from maternal circulation. &lt;ref&gt;&lt;pubmed&gt;20014413&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> '''Fluorescence in situ hybridisation (FISH):''' FISH is a cytogenetic technique, involving analysing the number and shape of the chromosomes of cells. FISH detects the addition or deletion of specific DNA sequences on chromosomes using florescent probes that bind to a similar sequence of chromosomes. Once the florescence probes are attached, fluorescence microscopy is used to view the chromosomes and detect the abnormality. In prenatal diagnosis, FISH is useful for detecting trisomy and monosomy conditions.[http://en.wikipedia.org/wiki/Fluorescent_in_situ_hybridization More about FISH]<br /> <br /> <br /> '''Comparative genomics:''' Comparative Genomics is a very new research field where the genome sequence of different organisms are compared. This comparison between organisms shows where a species genomes have been conserved (stabilising selection) and where differences occur (positive selection). Many species share the same genes, and comparative genomics can show what species share genes and which genes are different among species. This information can help us understand the function of different genes and identify and control diseases. The purpose is to gain a better understanding of how species have evolved and to determine the function of genes. In prenatal diagnosis, fetal cells can be viewed and compared against both parents genome, any change that deviates from the normal pattern due to too much or too little DNA can be seen, this deviation of the normal pattern means a certain chromosome has either been copied or deleted, causing disease. [http://www.ornl.gov/sci/techresources/Human_Genome/faq/compgen.shtml More about Comparative Genomics]<br /> <br /> =Useful links=<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Wikipedia'''[http://en.wikipedia.org/wiki/Chorionic_villus_sampling Chorionic villus sampling]<br /> <br /> '''Fact sheets''' [http://www.thewomens.org.au/ChorionicVillusSamplingCVS Chorionic villus sampling]<br /> <br /> '''Images''' [http://www.google.com.au/images?q=chorionic+villus+sampling&amp;oe=utf-8&amp;rls=org.mozilla:en-US:official&amp;client=firefox-a&amp;um=1&amp;ie=UTF-8&amp;source=univ&amp;ei=yCWcTKT-NsircY-nzNEJ&amp;sa=X&amp;oi=image_result_group&amp;ct=title&amp;resnum=4&amp;ved=0CD4QsAQwAw&amp;biw=1280&amp;bih=615 Chorionic villus sampling]<br /> <br /> '''You tube video of procedure''' [http://www.youtube.com/watch?v=0XUZsvTkEnw Chorionic villus sampling]<br /> <br /> =Glossary=<br /> <br /> '''Amniocentesis''' - A prenatal diagnostic test involving sampling of amniotic fluid by needle aspiration for genetic analysis.<br /> <br /> '''Amnion''' - An extraembryonic membrane ectoderm and extraembryonic mesoderm in origin and forms the innermost fetal membrane, produces amniotic fluid. This fluid-filled sac initially lies above the trilaminar embryo disc and with embryoic disc folding this sac is drawn ventrally to enclose (cover) the entire embryo, then fetus.<br /> <br /> '''Amniotic cavity''' - The fluid-filled (amniotic fluid) extraembryonic coelom (cavity) formed initially by epiblast and then ectoderm and surrounding extraembryonic mesoderm. In humans, it forms the innermost fetal membrane, produces amniotic fluid expanding to fuse with the chorionic membrane during week 8 of development.<br /> <br /> '''Amniotic fluid''' - The fluid that fills amniotic cavity totally encloses and cushions the embryo.<br /> <br /> '''Cannula''' - A flexible medical tube with a sharp-pointed part at one end that is inserted into a duct, vein, or cavity in order to drain away fluid or to administer drugs<br /> <br /> '''Chorion''' - The extraembryonic membrane generated from trophoblast and extraembryonic mesoderm that forms placenta. chorion and amnion are made by the somatopleure. The chorion becomes incorporated into placental development. The avian and reptilian chorion lies beside the egg shell and allows gas exchange.<br /> <br /> '''Chorionic villus sampling (CVS)''' - The taking a biopsy of the placenta, usually at the end of the second month of pregnancy, to test the fetus for genetic abnormalities.<br /> <br /> '''Chromosome''' - double stranded DNA coiled around histones. Condenses during mitosis and meiosis.<br /> <br /> '''Ectoderm''' - One of the initial 3 germ cell layers, which will form the nervous system from the neural tube and neural crest and also generates the entire epithelial layer of the skin covering the embryo.<br /> <br /> '''Endoscope''' - a long slender medical instrument for examining the interior of a bodily organ or performing minor surgery<br /> <br /> '''Endoderm''' - One of the initial 3 germ cell layers (ectoderm, mesoderm and endoderm) formed by the process of gastrulation. The endoderm forms as a cuboidal epithelium and contributes not only to the trilaminar embryo, but also lines the yolk sac. It will form the entire epithelial lining of the gastrointestinal tract (GIT), contribute to the accessory organs of GIT and also forms the epithelial lining of the respiratory tract.<br /> <br /> '''Fetus''' - In mammals, term describes the period of development following the embryonic period. In humans, the development week 9 to 36 is the fetal stage (second and third trimester). (see fetal period above). This term is also used non-scientifically to describe the human conceptus at both embryonic and fetal stages of development.<br /> <br /> '''Gene''' - A DNA sequence that is transcribed as a single unit and encodes a single polypeptide (protein) or a set of closely related polypeptides. There are approximately 20,000-25,000 protein encoding genes in the human genome. In each cell, DNA is found within the nucleus and also within mitochondria.<br /> <br /> '''Gestation''' - The period of time from conception to birth. A pregnancy with multiple fetuses is referred to as a multiple gestation.<br /> <br /> '''Mesoderm''' - The middle layer of the 3 germ cell layers of the trilaminar embryo.<br /> <br /> '''Miscarriage''' - A general clinical term for the loss of embryo or fetus by spontaneous abortion.<br /> <br /> '''Mitosis''' - The normal division of all cells, except germ cells, where chromosome number is maintained (diploid). <br /> <br /> '''Prenatal diagnosis''' - any of the diagnostic procedures used to determine whether a fetus has a genetic abnormality<br /> <br /> '''Tenaculum''' - instrument used to grasp the cervix and keep the uterus in place during gynecological procedures.<br /> <br /> '''Termination''' - The spontaneous or artificially induced expulsion of an embryo or fetus. As used in legal context, the term usually refers to induced abortion.<br /> <br /> '''Transabdominal''' - In the transabdominal CVS technique, the physician inserts a needle through the abdomen into the placenta. This is also done with ultrasound, to guide the physician<br /> <br /> '''Transcervical''' - In the transcervical CVS technique, the physician inserts a small tube through the cervix into the placenta. This is done while ultrasound guides the physician<br /> <br /> '''Ultrasound''' - A non-invasive technique for visualizing and prenatal diagnosis of several features of development including: follicles in the ovaries, the gestational sac, fetus in the uterus, fetal parameters, and the placenta. The technique uses high-frequency sound waves that are reflected off internal structures. These reflections can then be analysed and displayed by computer.<br /> <br /> '''Villi''' - Plural of villus, which is a thin projection from a surface. A term used to describe the many functional units together of the fetal placenta. <br /> <br /> '''Vitelline arteries and veins''' - The blood vessels which form in the extraembryonic mesoderm of the yolk sac and anastomose are called vitelline arteries (flow away from the embryo) and vitelline veins (flow toward the embryo).<br /> <br /> ==Prenatal Diagnosis Terms==<br /> <br /> '''false negative rate''' - The proportion of pregnancies that will test negative given that the congenital anomaly is present.<br /> <br /> '''false positive rate''' - The proportion of pregnancies that will test positive given that the congenital anomaly is absent.<br /> <br /> '''negative predictive value''' - The probability that a congenital anomaly is absent given that the prenatal screening test is negative.<br /> <br /> '''positive predictive value''' - The probability that a congenital anomaly is present given that the prenatal screening test is positive.<br /> <br /> '''pre-implantation genetic diagnosis''' - (PGD) a screening procedure for embryos produced through in vitro fertilisation (IVF) for genetic diseases that would generate developmental abnormalities or serious postnatal diseases.<br /> <br /> '''prenatal screening sensitivity''' - (detection rate) The probability of testing positive on a prenatal screening test if the congenital anomaly is present.<br /> <br /> '''prenatal screening specificity''' - The probability of testing negative on a prenatal screening test if the congenital anomaly is absent.<br /> <br /> <br /> ==Glossary Links==<br /> <br /> :[[A|A]] | [[B|B]] | [[C|C]] | [[D|D]] | [[E|E]] | [[F|F]] | [[G|G]] | [[H|H]] | [[I|I]] | [[J|J]] | [[K|K]] | [[L|L]] | [[M|M]] | [[N|N]] | [[O|O]] | [[P|P]] | [[Q|Q]] | [[R|R]] | [[S|S]] | [[T|T]] | [[U|U]] | [[V|V]] | [[W|W]] | [[X|X]] | [[Y|Y]] | [[Z|Z]] | [[Numbers|Numbers]]<br /> <br /> =References=<br /> &lt;references/&gt;<br /> <br /> == 2010 ANAT2341 Group Projects ==<br /> <br /> [[2010_Group_Project_1|Project 1 - Ultrasound]] | [[2010_Group_Project_2|Project 2 - Chorionic villus sampling]] | [[2010_Group_Project_3|Project 3 - Amniocentesis]] | [[2010_Group_Project_4|Group Project 4 - Percutaneous Umbilical Cord Blood Sampling]] | [[2010_Group_Project_5|Project 5 - Fetal Fibronectin]] | [[2010_Group_Project_6|Project 6 - Maternal serum alpha-fetoprotein]] | [[ANAT2341_2010_Students|Students Page]]<br /> <br /> <br /> {{Template:Footer}}<br /> [[Category:2010ANAT2341]] [[Category:Science-Undergraduate]]</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=Talk:2010_Group_Project_5&diff=39612 2010-10-06T05:06:49Z

<p>Z3265772: </p> <hr /> <div>Hey, i know im not supposed to be helping rival groups (hehe) but i was just having a general look through all the pages, and i noticed your new picture (which is awesome by the way). i thought i would let you know that the cervical canal is labeled in the wrong spot :/ hope you have time to fix it. kind regards - --[[User:Z3265772|z3265772]] 04:57, 6 October 2010 (UTC) also, if you decide to fix it, at the same time you might want to change the label speculum to cotton swab (or something similar), and if you dont want to change it, you might want to delete this post so mark doesnt read it :P hehe<br /> <br /> Hi Guys! I was just wondering if i could please get your permission to use your student drawn diagram, if you see our [[2010_Group_Project_2|page]] im making a table with all our diagrams in it, and, of course, i need your permission to use it :) Thanks! Jill - group 2 --[[User:Z3265772|z3265772]] 02:54, 23 September 2010 (UTC)<br /> <br /> <br /> ==Peer review==<br /> <br /> <br /> Group 5: I found your page to be very concise and to the point and your information seems to cover all concepts without rambling on. This is a good thing because it makes reading the text straightforward and simpler to understand but at the same time i think you could still have used with some background information, perhaps in a history section, and maybe even a discussion about limitations. More pictures would also greatly improve not only the look of your page but also compliment the information and engage your reader. In terms of structure, i think that improvements could be made here to allow the information to flow better. Perhaps the 'preventions' section could be merged with &quot;what next?' because the content is related so it would be natural progression and even put into a table to aid understanding? But overall its looking good and the research is evident. good job<br /> --[[User:Z3293029|z3293029]] 21:59, 22 September 2010 (UTC)<br /> <br /> <br /> <br /> <br /> Group 5 - in terms of content, it is informative. Well done. In terms of the page aesthetics, images of fetal fibronectin itself would be useful at the start, and images especially in the Procedure section. The information is there however the use of images throughout the page and tabulating some of your information would make it more engaging and easier to understand. Remember to add a Historical background on the procedure even if it's short seeing as it is still a relatively 'new' procedure. The current research section could be rephrased more to fit into the flow of your page as a whole. Judging by the last sentence, it seems as though it has been put together by simply copy and pasting snippets from different journals. It would be more beneficial if the information given in the journals was analysed, interpreted and then presented while still referencing. This goes for the procedure also. Try to find information, understand it yourself and then 'explain' it to your audience. You will find that the page will be more cohesive as a result. Another point would be to expand the subheadings so that they clearly identify the subject matter being covered under that section as at the moment they are quite vague. Some points which could also be addressed: future of the procedure? The glossary could also be expanded. Good effort. --z3241780 14:14, 22 September 2010 (UTC)<br /> <br /> <br /> '''GROUP 5: Fetal Fibronectin'''<br /> <br /> Group 5 the first thing I have to say about your project page that I think will really help you guy out is that you need put more pictures. If I’m not mistaken the hand drawn picture at the very top is the only picture on the whole page. Pictures help captivate the audience and makes your intended audience want to read on to find out or relate the picture to the information present. They also help break up the page and allow the reader some processing time while reading the information of Fetal fibronectin. The Information you have presented is pretty much flawless being the perfect amount of scientific language, by this I mean that your assignment is assessable for pretty much anyone but more importantly the information was informative. The Dot points you have used many of the section also help us understand the project better. Last but not least you have missed out on history of the pre-natal diagnostic technique which Mark Hill said was part of his marking scheme, and after reading what other people have posted on your discussion page I notice that I’m not the only one to make this comment. Apart from that nice work!!!!<br /> <br /> --[[User:Z3252635|z3252635]] 13:23, 22 September 2010 (UTC)<br /> <br /> <br /> <br /> You have a nice and simple page, concise and to the point. Nice drawn image at the beginning of the page to draw attention I thought it was very well done. I found that the current research was good, showed some good effort with good references to backup your info about the case studies and statistics. Ways that could be improved is the use of images, so people could understand the topic better, and some tables may help to make the information more interesting. I guess more detail and elaborate more on the history. Also i wasn't sure if there were any risks involved and how common this test is done. References were good, with a nice glossary. nice effort!<br /> --[[User:Z3224500|z3224500]] 13:12, 22 September 2010 (UTC)<br /> <br /> <br /> <br /> Good content, needs a bit of colour and dynamics,,pictures, to engage the viewer,<br /> The explanation of the results that can be obtained is succinct and to the point, it is a good section. There a few typos about, I was interseted in how accurate the test was for predicting pre term births and this was dealt with well in clinical research section. This had good scientific content. A table summarising your projects views on the validity of conducting this procedure, may reinforce the topic as, as you have explained in sentences, that it is a pretty crucial diagnostic tool. With a few little things like that this is a good web page.<br /> --[[User:Z3129413]] 17:12, 22 September 2010 (UTC)<br /> <br /> <br /> <br /> Simple, good organisation and what I like about it is that they referenced a lot of their text to backup their information which i thought was very scientific. The drawn picture was nice, but overall the page needed more images and pictures to understand the topic better. A table may have been a good choice to convey some information to make it more interesting, but it is still simple so not a very big deal there. So overall, more images, and I think more longer information under some headings would provide more extensive knowledge on the topic. References are very good, with an alright glossary. <br /> Hi guys!<br /> <br /> I’m guessing that the fetal fibronectin diagram at the top of the page is your student drawn diagram. Nice job on it. You might want to more clearly indicate that it is student drawn, though, and you should probably include the copyright statement. Also, you might want to think about adding some more pictures to your page to break up the text a little bit and make the page more eye-catching and easy to look at. I have to say that I really liked the way that you’ve set out the section on the test results. It was very easy to read. If I had another suggestion, it would be to move your glossary up to before the references – I almost didn’t notice you had a glossary hidden there. If someone wasn’t really looking, they might not spot it. Other than that, nice job!--[[User:Z3252833|z3252833]] 12:45, 22 September 2010 (UTC)<br /> <br /> --Group 4 Fetal Fibronectin <br /> <br /> Although this page had not as much detail put into it compared to previous pages, I found it much easier to read and absorb information. We must take into account that they have used a variety of sources so I am speculating that this is the more important information after researching this topic. So taking this into account I believe that this page is informative on the topic using a variety of sources, but hasn’t gone too in depth. The only advice I can give is to add some pictures or diagrams, even reproduce the information in a table to make it more interesting. Thanks guys you have done a great job. <br /> <br /> --[[User:Z3290040|3290040]] 10:19, 22 September 2010 (UTC)<br /> <br /> <br /> Group 5<br /> <br /> Group 5, the set out of your page is really good, its broken up into sections and there's lots of point form throughout which makes it really clear and easy to understand, except for current research. <br /> <br /> What could be improved: More pictures would help break it up and make it more interesting, maybe a picture of the actual procedure would be good. Some more detail could be added to give it a more scientific aspect like for example in the procedure section, and maybe a section on the historic background, I think thats part of the marking criteria. Overall i think you've done a great job but just maybe add some more detail to give it a more scientific feel.<br /> <br /> --[[User:Z3292208|z3292208]] 08:21, 22 September 2010 (UTC)<br /> <br /> <br /> Fetal Fibronectin<br /> <br /> Hey guys good work with this assignment. The first thing I notice was there are not as many pictures as there are in other pages. However, what was there was relevant and easily readable.I think some more detail could be given in a few sections would help convey a more technical side of this subject matter. <br /> <br /> --[[User:Z3254753|z3254753]] 17:20, 21 September 2010 (UTC)<br /> <br /> Group 5 = I really like how all the parts are broken down into points which made it easy to follow except for the &quot;current research&quot; . It is very structured and the picture looks great.<br /> <br /> What could be improved is adding more pictures and break down the current research into bullet points but other than that its great --[[User:Z3305561|Navneet Ahuja]] 12:26, 21 September 2010 (UTC)<br /> <br /> Group 5: Foetal fibronectin <br /> What I found good about this assignment was that all the information was presented in a clear and organized manner, and did appear to have a teaching element to the project. There was a great amount of research and referencing done although it did lack a bit of a “scientific feel”.<br /> <br /> What could be improved?<br /> Some extra pictures or tables could be added and also the glossary could probably be placed above the references so that it is easier to refer to it instead of having to scroll all the way down. <br /> <br /> --[[User:Z3254433|z3254433]] 07:20, 20 September 2010 (UTC)<br /> <br /> Hi Group 5, I liked the fact that everything is referenced, it made me feel like you have really researched what you are putting on here. Your page is very informative and i learnt alot about fetal fibronectin. i liked your student drawn diagram!<br /> <br /> improvements: definitely extra pictures. If you cant find any that you can use, start emailing the companies, this is how i got most of our permissions, as i couldnt find any with permissions. as a last resort try wiki, all of their pictures arent copyright protected. Also, probably best to go through the criteria for the page, youve missed the history altogether. Here it is for you:<br /> project outline:<br /> <br /> 1. Intro<br /> <br /> 2. historic background<br /> <br /> 3. current associated research<br /> <br /> 4. simplified description of technique<br /> <br /> 5. student drawn figure or animation<br /> <br /> 6. reference list<br /> <br /> 7. glossary<br /> <br /> 8. external links <br /> <br /> --[[User:Z3265772|z3265772]] 03:46, 21 September 2010 (UTC)<br /> <br /> Reading through the information is quite easy, the headings and sub-headings makes it very clear to follow. Having questions as sub-headings makes it very user friendly to read and understand the fetal fibronectin test. However the history and development of the test is lacking. Also is the test specific for pre-mature birth detection only? please specify. The introduction also is a bit confusing where it say &quot;Fetal fibronectin is a protein based plasma that acts as a form of glue attaching the amniotic sac to the uterine wall. Fetal fibronectin is commonly present between 22 to 35 weeks of pregnancy. It is released into the upper vagina towards the onset of labour. If the test finds fFN between this period, the woman will have a chance of going into labour&quot; - what period are u talking about? when I read it, it seems to be prefering to 22-35 weeks of pregnancy as it state before, but it was mention that it was commonly to find fFN during that time, does that mean that it is common for women to have pre-mature births?<br /> <br /> What could be improve would be providing a brief history of this test and fix up the introduction so it won't be confusing to the reader.<br /> <br /> --[[User:Z3216889|3216889]] 13:53, 22 September 2010 (UTC)<br /> <br /> <br /> ----<br /> <br /> <br /> {{Template:Projects10MHtalk}}<br /> <br /> --[[User:S8600021|Mark Hill]] 00:55, 31 August 2010 (UTC) There is no content on your project page and you are not making appropriate progress. I expect you all at this weeks lab and an explanation as to why no one is adding content to your project page.<br /> <br /> ===You need to have this updated before this weeks lab when I will be reviewing all projects.===<br /> <br /> <br /> --[[User:S8600021|Mark Hill]] 04:44, 23 August 2010 (UTC) This is no where not good enough, I will need to talk to you in this weeks lab. Your group has not searched the scientific literature, found information about fibronectin or related images. Unless everyone here gets going on this project you will not be completed in time.<br /> <br /> <br /> Dez--[[User:Z3318446|Seow Liew]] 09:10, 9 August 2010 (UTC)<br /> <br /> Hi,members,i have split the work up to 3 different constituent parts and each of us will get to pick 1<br /> <br /> and do it.In addition,i have also roughly split the work up to 3 stages, which is:<br /> <br /> a)collecting the information from different sources,<br /> <br /> b)grouping the information,and<br /> <br /> c)put what we get on group page.<br /> <br /> Note:<br /> <br /> -you just need to put your name next to the capitalised heading,(e.g PART C-Dez)to indicate you are up to that part.<br /> <br /> -PART C is picked by me, so,options left are PART A and B only.<br /> <br /> -You can always add in additional info, but i think it`s better we discuss it first when we figure or find it out(the ones you cant decide if they`re your part),so that we can discussion whose part it belongs to and who should do it, to kinda maintain the flow of the content.<br /> <br /> -i`m aware that PART B is relatively short,i was outta ideas.Well, the point of PART B i make it mainly emphasizes on info related to how this test is carried out and 3rd party`s voices on this test.<br /> <br /> The 3 different parts that i have split up are as following:<br /> <br /> PART A - Jade<br /> <br /> Introduction:<br /> <br /> -what does this technique rely on?(fibronectin)<br /> <br /> -Stuff about fn ,fibronectin,like the time or stage it forms during pregnancy.<br /> <br /> -what does fn do in mom`s tummy during pregnancy.<br /> <br /> -what kind of other abnormalities can this test predict? (mainly used for the prediction of preterm birth as far as i know)<br /> <br /> <br /> <br /> -signs and events of preterm birth in mom`s tummy if there`s a high possibility the mom`s having a <br /> <br /> preterm birth,like,cervix dilation , fn leaks outta vagina,etc.<br /> <br /> -the relationship of fn and prediction of preterm birth.<br /> <br /> (like comparison of fn between pregnant woman who are not at risk of preterm birth and those who are,etc)<br /> <br /> <br /> PART B-Mary<br /> <br /> -how does the test work? like,steps and procedures involve.<br /> <br /> 3rd party`s voices:<br /> <br /> -what do the public doctors , pregnant woman say about this technique?-interview thing, vids( how this<br /> <br /> test is carried out)<br /> <br /> -related images.<br /> <br /> <br /> <br /> PART C-Dez<br /> <br /> -who should take the test?<br /> <br /> -What will the results tell about risk of delivering early?<br /> <br /> -diagnostic accuracy.<br /> <br /> -side effects.<br /> <br /> -advantages of knowing the prediction.<br /> <br /> -treatments for those who tested with positive result.<br /> <br /> <br /> <br /> One last thing,<br /> <br /> i think our primary source would be pubmed,of course there`re others too, but then the info isnt as<br /> <br /> extensive and specific as pubmed,so go to it,look for the related journals and extract only details that<br /> <br /> you need.<br /> <br /> It`d be great if we could find more images and videos related to the info we get,by doing so,we could<br /> <br /> make the page less lengthy and readers understand it better.<br /> <br /> Looking forward to your comments,because i could be wrong.<br /> <br /> <br /> <br /> --[[User:Z3291079|z3291079]] 12:21, 16 August 2010 (UTC)<br /> We should probably add something about the history of fetal f. Fit it in with part B?<br /> <br /> heey , sorry for the late reply.Yea, it fits in with part B , sounds reasonable.<br /> Do you have any idea what it could be? and post some links on here , if you have some with you.<br /> --[[User:Z3318446|Seow Liew]] 06:57, 19 August 2010 (UTC)<br /> <br /> <br /> <br /> Hey guys I found a really good article about that defines what fetal fibronectin is and how it is used to determine preterm labour. I Don't know if I can copy paste because of the copyright and I forgot how to make a link so the website is http://www.ranzcog.edu.au/publications/statements/C-obs26.pdf , It's got bits and pieces of everyones parts if You guys want to look through it and pick out what would be of help to you. Also I found a video. It's that doctor that goes onto the Dr Phil show but it's pretty good. It was one of few that I could find soo look at it and tell me what you think. Its website is http://www.5min.com/Video/Learn-about-Fetal-Fibronectin-Test-114223707. If you can find any videos just post them up because I don't think there are many around. Also I've found articles that question the tests ability to undermine the occurrence of the pre-term birth. I don't know if this is significant enough to add in as we are essentially talking about it's role in identifying whether or not the mother is going to have a pre-term birth or not instead of whether the doctor can stop it. Tell me what you think. should I add it in or not? You can find the article at http://journals.lww.com/greenjournal/Abstract/1996/05000/The_Preterm_Prediction_Study__Fetal_Fibronectin.1.aspx. --[[User:Z3252083|Mary Nicolas]] 10:09, 18 August 2010 (UTC)<br /> <br /> I think it is significant enough as it is an issue around this technique.I`d say add it in.<br /> --[[User:Z3318446|Seow Liew]] 07:12, 19 August 2010 (UTC)<br /> <br /> Yeah add this in cos you can say how it is a good technique but is not the best etc., etc. This could cover the topic of the reliability of this technique which we can look through. Some additional info i guess. --[[User:Z3291079|Jade Seenandan]] 03:02, 24 August 2010 (UTC)<br /> <br /> Mary, you have one more part to do , which is the history of fetal fibronectin.( Like what inspired the Doc came up with this technique and is this technique a modified version of some technique, and of course it`d be great if you could find stuff like when the first time this technique was put to use, how was it and talk a little bit about the following tests,and important people involved.)<br /> --[[User:Z3318446|Seow Liew]] 06:57, 19 August 2010 (UTC)<br /> <br /> <br /> Hey guys, I've found an article that is a good reference describing the test...it's a good outline of what we need to know. I've found a site about fFN that may help, nothing major though. it also has a few references of articles on there that we could research. I'm going to post the subheadings up on the main page of what i think, let me know what you think but you guys can go ahead and change it :) - Jade<br /> <br /> http://www.marchofdimes.com/professionals/14332_1149.asp<br /> <br /> http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2582650/?tool=pubmed --[[User:Z3291079|Jade Seenandan]] 03:18, 24 August 2010 (UTC)<br /> <br /> Oh and if we can find anything about further research about fFN, about improving it or something then we should add that in --[[User:Z3291079|Jade Seenandan]] 03:33, 24 August 2010 (UTC)<br /> <br /> I will do a drawing of fetal fibronectin in the womb, there's a great picture on the video that mary posted, so i will use that as a guide --[[User:Z3291079|Jade Seenandan]] 11:17, 1 September 2010 (UTC)<br /> <br /> http://www.southernhealth.org.au/icms_docs/1197_Fetal_fibronectin_Quikcheck_in_threatened_peterm_labour.pdf Just some more info to help --[[User:Z3291079|Jade Seenandan]] 13:55, 1 September 2010 (UTC)<br /> <br /> Hey guys, kinda getting worried, we should really get a move on with this assignment lol. I'm going to draw a picture today and put it up. And hopefully finish my part of this assignment. Any feedback? --[[User:Z3291079|Jade Seenandan]] 00:16, 7 September 2010 (UTC)<br /> <br /> Another helpful site guys - http://www.ffntest.com/index.html --[[User:Z3291079|Jade Seenandan]] 02:13, 8 September 2010 (UTC)<br /> <br /> hey guys don't worry about me I'm doing my work I just want to do it all before I put it up. The test results and procedure have been really easy to put together but the history is quite difficult as there is not demarcating date or person that used it first up... if that makes sense. I'll do it but I dont think I'm going to come up with a timeline like some of the other groups. --[[User:Z3252083|Mary Nicolas]] 04:06, 13 September 2010 (UTC)<br /> <br /> @Mary:it`s alright ,Mary.Put up what you think is makes sense,we can then discuss on it and edit in the remaining days.<br /> @Jade:i realise you didn`t reference your work.So, i reckon you reference your work as soon as you can.--[[User:Z3318446|Seow Liew]] 10:27, 13 September 2010 (UTC)<br /> <br /> We also need more images. It's hard to find non-copyrighted pictures for fFN. i'll draw another picture if really needed. --[[User:Z3291079|Jade Seenandan]] 12:38, 13 September 2010 (UTC)<br /> <br /> <br /> ===Improvements===<br /> <br /> Include a table on the deformities that result from pre-term births<br /> <br /> History; refer back to the outline - I'm finding it extremely hard to find stuff about the history ay--[[User:Z3291079|Jade Seenandan]] 11:49, 5 October 2010 (UTC)<br /> <br /> Pictures<br /> <br /> Images for the Procedure - I added another drawing for the procedure --[[User:Z3291079|Jade Seenandan]] 11:49, 5 October 2010 (UTC)<br /> <br /> Glossary above the references - DONE --[[User:Z3291079|Jade Seenandan]] 11:49, 5 October 2010 (UTC)<br /> <br /> Make Introduction clearer - DONE --[[User:Z3291079|Jade Seenandan]] 11:49, 5 October 2010 (UTC)<br /> <br /> Break up Current research into dot points<br /> <br /> --[[User:Z3252083|Mary Nicolas]] 00:25, 23 September 2010 (UTC)<br /> <br /> <br /> ''So we don't forget; '''the project guidelines'''''.<br /> <br /> 1. The key points relating to the topic that your group allocated are clearly described.<br /> <br /> 2. The choice of content, headings and sub-headings, diagrams, tables, graphs show a good understanding of the topic area.<br /> <br /> 3. Content is correctly cited and referenced.<br /> <br /> 4. The wiki has an element of teaching at a peer level using the student's own innovative diagrams, tables or figures and/or using interesting examples or explanations.<br /> <br /> 5. Evidence of significant research relating to basic and applied sciences that goes beyond the formal teaching activities.<br /> <br /> 6. Relates the topic and content of the Wiki entry to learning aims of embryology.<br /> <br /> 7. Clearly reflects on editing/feedback from group peers and articulates how the Wiki could be improved (or not) based on peer comments/feedback. Demonstrates an ability to review own work when criticised in an open edited wiki format. Reflects on what was learned from the process of editing a peer's wiki.<br /> <br /> 8. Evaluates own performance and that of group peers to give a rounded summary of this wiki process in terms of group effort and achievement.<br /> <br /> 9. The content of the wiki should demonstrate to the reader that your group has researched adequately on this topic and covered the key areas necessary to inform your peers in their learning.<br /> <br /> 10. Develops and edits the wiki entries in accordance with the above guidelines. --[[User:Z3252083|Mary Nicolas]] 00:49, 23 September 2010 (UTC)<br /> <br /> <br /> Hi Guys! I was just wondering if i could please get your permission to use your student drawn diagram, if you see our [[2010_Group_Project_2|page]] im making a table with all our diagrams in it, and, of course, i need your permission to use it :) Thanks! Jill - group 2 --[[User:Z3265772|z3265772]] 02:55, 23 September 2010 (UTC)</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=Talk:2010_Group_Project_5&diff=39609 2010-10-06T05:03:04Z

<p>Z3265772: </p> <hr /> <div>Hey, i was just having a general look through all the pages, and i noticed your new picture (which is awesome by the way). i thought i would let you know that the cervical canal is labeled in the wrong spot :/ hope you have time to fix it. kind regards - --[[User:Z3265772|z3265772]] 04:57, 6 October 2010 (UTC) also, if you decide to fix it, at the same time you might want to change the label speculum to cotton swab (or something similar), and if you dont want to change it, you might want to delete this post so mark doesnt read it :P hehe<br /> <br /> Hi Guys! I was just wondering if i could please get your permission to use your student drawn diagram, if you see our [[2010_Group_Project_2|page]] im making a table with all our diagrams in it, and, of course, i need your permission to use it :) Thanks! Jill - group 2 --[[User:Z3265772|z3265772]] 02:54, 23 September 2010 (UTC)<br /> <br /> <br /> ==Peer review==<br /> <br /> <br /> Group 5: I found your page to be very concise and to the point and your information seems to cover all concepts without rambling on. This is a good thing because it makes reading the text straightforward and simpler to understand but at the same time i think you could still have used with some background information, perhaps in a history section, and maybe even a discussion about limitations. More pictures would also greatly improve not only the look of your page but also compliment the information and engage your reader. In terms of structure, i think that improvements could be made here to allow the information to flow better. Perhaps the 'preventions' section could be merged with &quot;what next?' because the content is related so it would be natural progression and even put into a table to aid understanding? But overall its looking good and the research is evident. good job<br /> --[[User:Z3293029|z3293029]] 21:59, 22 September 2010 (UTC)<br /> <br /> <br /> <br /> <br /> Group 5 - in terms of content, it is informative. Well done. In terms of the page aesthetics, images of fetal fibronectin itself would be useful at the start, and images especially in the Procedure section. The information is there however the use of images throughout the page and tabulating some of your information would make it more engaging and easier to understand. Remember to add a Historical background on the procedure even if it's short seeing as it is still a relatively 'new' procedure. The current research section could be rephrased more to fit into the flow of your page as a whole. Judging by the last sentence, it seems as though it has been put together by simply copy and pasting snippets from different journals. It would be more beneficial if the information given in the journals was analysed, interpreted and then presented while still referencing. This goes for the procedure also. Try to find information, understand it yourself and then 'explain' it to your audience. You will find that the page will be more cohesive as a result. Another point would be to expand the subheadings so that they clearly identify the subject matter being covered under that section as at the moment they are quite vague. Some points which could also be addressed: future of the procedure? The glossary could also be expanded. Good effort. --z3241780 14:14, 22 September 2010 (UTC)<br /> <br /> <br /> '''GROUP 5: Fetal Fibronectin'''<br /> <br /> Group 5 the first thing I have to say about your project page that I think will really help you guy out is that you need put more pictures. If I’m not mistaken the hand drawn picture at the very top is the only picture on the whole page. Pictures help captivate the audience and makes your intended audience want to read on to find out or relate the picture to the information present. They also help break up the page and allow the reader some processing time while reading the information of Fetal fibronectin. The Information you have presented is pretty much flawless being the perfect amount of scientific language, by this I mean that your assignment is assessable for pretty much anyone but more importantly the information was informative. The Dot points you have used many of the section also help us understand the project better. Last but not least you have missed out on history of the pre-natal diagnostic technique which Mark Hill said was part of his marking scheme, and after reading what other people have posted on your discussion page I notice that I’m not the only one to make this comment. Apart from that nice work!!!!<br /> <br /> --[[User:Z3252635|z3252635]] 13:23, 22 September 2010 (UTC)<br /> <br /> <br /> <br /> You have a nice and simple page, concise and to the point. Nice drawn image at the beginning of the page to draw attention I thought it was very well done. I found that the current research was good, showed some good effort with good references to backup your info about the case studies and statistics. Ways that could be improved is the use of images, so people could understand the topic better, and some tables may help to make the information more interesting. I guess more detail and elaborate more on the history. Also i wasn't sure if there were any risks involved and how common this test is done. References were good, with a nice glossary. nice effort!<br /> --[[User:Z3224500|z3224500]] 13:12, 22 September 2010 (UTC)<br /> <br /> <br /> <br /> Good content, needs a bit of colour and dynamics,,pictures, to engage the viewer,<br /> The explanation of the results that can be obtained is succinct and to the point, it is a good section. There a few typos about, I was interseted in how accurate the test was for predicting pre term births and this was dealt with well in clinical research section. This had good scientific content. A table summarising your projects views on the validity of conducting this procedure, may reinforce the topic as, as you have explained in sentences, that it is a pretty crucial diagnostic tool. With a few little things like that this is a good web page.<br /> --[[User:Z3129413]] 17:12, 22 September 2010 (UTC)<br /> <br /> <br /> <br /> Simple, good organisation and what I like about it is that they referenced a lot of their text to backup their information which i thought was very scientific. The drawn picture was nice, but overall the page needed more images and pictures to understand the topic better. A table may have been a good choice to convey some information to make it more interesting, but it is still simple so not a very big deal there. So overall, more images, and I think more longer information under some headings would provide more extensive knowledge on the topic. References are very good, with an alright glossary. <br /> Hi guys!<br /> <br /> I’m guessing that the fetal fibronectin diagram at the top of the page is your student drawn diagram. Nice job on it. You might want to more clearly indicate that it is student drawn, though, and you should probably include the copyright statement. Also, you might want to think about adding some more pictures to your page to break up the text a little bit and make the page more eye-catching and easy to look at. I have to say that I really liked the way that you’ve set out the section on the test results. It was very easy to read. If I had another suggestion, it would be to move your glossary up to before the references – I almost didn’t notice you had a glossary hidden there. If someone wasn’t really looking, they might not spot it. Other than that, nice job!--[[User:Z3252833|z3252833]] 12:45, 22 September 2010 (UTC)<br /> <br /> --Group 4 Fetal Fibronectin <br /> <br /> Although this page had not as much detail put into it compared to previous pages, I found it much easier to read and absorb information. We must take into account that they have used a variety of sources so I am speculating that this is the more important information after researching this topic. So taking this into account I believe that this page is informative on the topic using a variety of sources, but hasn’t gone too in depth. The only advice I can give is to add some pictures or diagrams, even reproduce the information in a table to make it more interesting. Thanks guys you have done a great job. <br /> <br /> --[[User:Z3290040|3290040]] 10:19, 22 September 2010 (UTC)<br /> <br /> <br /> Group 5<br /> <br /> Group 5, the set out of your page is really good, its broken up into sections and there's lots of point form throughout which makes it really clear and easy to understand, except for current research. <br /> <br /> What could be improved: More pictures would help break it up and make it more interesting, maybe a picture of the actual procedure would be good. Some more detail could be added to give it a more scientific aspect like for example in the procedure section, and maybe a section on the historic background, I think thats part of the marking criteria. Overall i think you've done a great job but just maybe add some more detail to give it a more scientific feel.<br /> <br /> --[[User:Z3292208|z3292208]] 08:21, 22 September 2010 (UTC)<br /> <br /> <br /> Fetal Fibronectin<br /> <br /> Hey guys good work with this assignment. The first thing I notice was there are not as many pictures as there are in other pages. However, what was there was relevant and easily readable.I think some more detail could be given in a few sections would help convey a more technical side of this subject matter. <br /> <br /> --[[User:Z3254753|z3254753]] 17:20, 21 September 2010 (UTC)<br /> <br /> Group 5 = I really like how all the parts are broken down into points which made it easy to follow except for the &quot;current research&quot; . It is very structured and the picture looks great.<br /> <br /> What could be improved is adding more pictures and break down the current research into bullet points but other than that its great --[[User:Z3305561|Navneet Ahuja]] 12:26, 21 September 2010 (UTC)<br /> <br /> Group 5: Foetal fibronectin <br /> What I found good about this assignment was that all the information was presented in a clear and organized manner, and did appear to have a teaching element to the project. There was a great amount of research and referencing done although it did lack a bit of a “scientific feel”.<br /> <br /> What could be improved?<br /> Some extra pictures or tables could be added and also the glossary could probably be placed above the references so that it is easier to refer to it instead of having to scroll all the way down. <br /> <br /> --[[User:Z3254433|z3254433]] 07:20, 20 September 2010 (UTC)<br /> <br /> Hi Group 5, I liked the fact that everything is referenced, it made me feel like you have really researched what you are putting on here. Your page is very informative and i learnt alot about fetal fibronectin. i liked your student drawn diagram!<br /> <br /> improvements: definitely extra pictures. If you cant find any that you can use, start emailing the companies, this is how i got most of our permissions, as i couldnt find any with permissions. as a last resort try wiki, all of their pictures arent copyright protected. Also, probably best to go through the criteria for the page, youve missed the history altogether. Here it is for you:<br /> project outline:<br /> <br /> 1. Intro<br /> <br /> 2. historic background<br /> <br /> 3. current associated research<br /> <br /> 4. simplified description of technique<br /> <br /> 5. student drawn figure or animation<br /> <br /> 6. reference list<br /> <br /> 7. glossary<br /> <br /> 8. external links <br /> <br /> --[[User:Z3265772|z3265772]] 03:46, 21 September 2010 (UTC)<br /> <br /> Reading through the information is quite easy, the headings and sub-headings makes it very clear to follow. Having questions as sub-headings makes it very user friendly to read and understand the fetal fibronectin test. However the history and development of the test is lacking. Also is the test specific for pre-mature birth detection only? please specify. The introduction also is a bit confusing where it say &quot;Fetal fibronectin is a protein based plasma that acts as a form of glue attaching the amniotic sac to the uterine wall. Fetal fibronectin is commonly present between 22 to 35 weeks of pregnancy. It is released into the upper vagina towards the onset of labour. If the test finds fFN between this period, the woman will have a chance of going into labour&quot; - what period are u talking about? when I read it, it seems to be prefering to 22-35 weeks of pregnancy as it state before, but it was mention that it was commonly to find fFN during that time, does that mean that it is common for women to have pre-mature births?<br /> <br /> What could be improve would be providing a brief history of this test and fix up the introduction so it won't be confusing to the reader.<br /> <br /> --[[User:Z3216889|3216889]] 13:53, 22 September 2010 (UTC)<br /> <br /> <br /> ----<br /> <br /> <br /> {{Template:Projects10MHtalk}}<br /> <br /> --[[User:S8600021|Mark Hill]] 00:55, 31 August 2010 (UTC) There is no content on your project page and you are not making appropriate progress. I expect you all at this weeks lab and an explanation as to why no one is adding content to your project page.<br /> <br /> ===You need to have this updated before this weeks lab when I will be reviewing all projects.===<br /> <br /> <br /> --[[User:S8600021|Mark Hill]] 04:44, 23 August 2010 (UTC) This is no where not good enough, I will need to talk to you in this weeks lab. Your group has not searched the scientific literature, found information about fibronectin or related images. Unless everyone here gets going on this project you will not be completed in time.<br /> <br /> <br /> Dez--[[User:Z3318446|Seow Liew]] 09:10, 9 August 2010 (UTC)<br /> <br /> Hi,members,i have split the work up to 3 different constituent parts and each of us will get to pick 1<br /> <br /> and do it.In addition,i have also roughly split the work up to 3 stages, which is:<br /> <br /> a)collecting the information from different sources,<br /> <br /> b)grouping the information,and<br /> <br /> c)put what we get on group page.<br /> <br /> Note:<br /> <br /> -you just need to put your name next to the capitalised heading,(e.g PART C-Dez)to indicate you are up to that part.<br /> <br /> -PART C is picked by me, so,options left are PART A and B only.<br /> <br /> -You can always add in additional info, but i think it`s better we discuss it first when we figure or find it out(the ones you cant decide if they`re your part),so that we can discussion whose part it belongs to and who should do it, to kinda maintain the flow of the content.<br /> <br /> -i`m aware that PART B is relatively short,i was outta ideas.Well, the point of PART B i make it mainly emphasizes on info related to how this test is carried out and 3rd party`s voices on this test.<br /> <br /> The 3 different parts that i have split up are as following:<br /> <br /> PART A - Jade<br /> <br /> Introduction:<br /> <br /> -what does this technique rely on?(fibronectin)<br /> <br /> -Stuff about fn ,fibronectin,like the time or stage it forms during pregnancy.<br /> <br /> -what does fn do in mom`s tummy during pregnancy.<br /> <br /> -what kind of other abnormalities can this test predict? (mainly used for the prediction of preterm birth as far as i know)<br /> <br /> <br /> <br /> -signs and events of preterm birth in mom`s tummy if there`s a high possibility the mom`s having a <br /> <br /> preterm birth,like,cervix dilation , fn leaks outta vagina,etc.<br /> <br /> -the relationship of fn and prediction of preterm birth.<br /> <br /> (like comparison of fn between pregnant woman who are not at risk of preterm birth and those who are,etc)<br /> <br /> <br /> PART B-Mary<br /> <br /> -how does the test work? like,steps and procedures involve.<br /> <br /> 3rd party`s voices:<br /> <br /> -what do the public doctors , pregnant woman say about this technique?-interview thing, vids( how this<br /> <br /> test is carried out)<br /> <br /> -related images.<br /> <br /> <br /> <br /> PART C-Dez<br /> <br /> -who should take the test?<br /> <br /> -What will the results tell about risk of delivering early?<br /> <br /> -diagnostic accuracy.<br /> <br /> -side effects.<br /> <br /> -advantages of knowing the prediction.<br /> <br /> -treatments for those who tested with positive result.<br /> <br /> <br /> <br /> One last thing,<br /> <br /> i think our primary source would be pubmed,of course there`re others too, but then the info isnt as<br /> <br /> extensive and specific as pubmed,so go to it,look for the related journals and extract only details that<br /> <br /> you need.<br /> <br /> It`d be great if we could find more images and videos related to the info we get,by doing so,we could<br /> <br /> make the page less lengthy and readers understand it better.<br /> <br /> Looking forward to your comments,because i could be wrong.<br /> <br /> <br /> <br /> --[[User:Z3291079|z3291079]] 12:21, 16 August 2010 (UTC)<br /> We should probably add something about the history of fetal f. Fit it in with part B?<br /> <br /> heey , sorry for the late reply.Yea, it fits in with part B , sounds reasonable.<br /> Do you have any idea what it could be? and post some links on here , if you have some with you.<br /> --[[User:Z3318446|Seow Liew]] 06:57, 19 August 2010 (UTC)<br /> <br /> <br /> <br /> Hey guys I found a really good article about that defines what fetal fibronectin is and how it is used to determine preterm labour. I Don't know if I can copy paste because of the copyright and I forgot how to make a link so the website is http://www.ranzcog.edu.au/publications/statements/C-obs26.pdf , It's got bits and pieces of everyones parts if You guys want to look through it and pick out what would be of help to you. Also I found a video. It's that doctor that goes onto the Dr Phil show but it's pretty good. It was one of few that I could find soo look at it and tell me what you think. Its website is http://www.5min.com/Video/Learn-about-Fetal-Fibronectin-Test-114223707. If you can find any videos just post them up because I don't think there are many around. Also I've found articles that question the tests ability to undermine the occurrence of the pre-term birth. I don't know if this is significant enough to add in as we are essentially talking about it's role in identifying whether or not the mother is going to have a pre-term birth or not instead of whether the doctor can stop it. Tell me what you think. should I add it in or not? You can find the article at http://journals.lww.com/greenjournal/Abstract/1996/05000/The_Preterm_Prediction_Study__Fetal_Fibronectin.1.aspx. --[[User:Z3252083|Mary Nicolas]] 10:09, 18 August 2010 (UTC)<br /> <br /> I think it is significant enough as it is an issue around this technique.I`d say add it in.<br /> --[[User:Z3318446|Seow Liew]] 07:12, 19 August 2010 (UTC)<br /> <br /> Yeah add this in cos you can say how it is a good technique but is not the best etc., etc. This could cover the topic of the reliability of this technique which we can look through. Some additional info i guess. --[[User:Z3291079|Jade Seenandan]] 03:02, 24 August 2010 (UTC)<br /> <br /> Mary, you have one more part to do , which is the history of fetal fibronectin.( Like what inspired the Doc came up with this technique and is this technique a modified version of some technique, and of course it`d be great if you could find stuff like when the first time this technique was put to use, how was it and talk a little bit about the following tests,and important people involved.)<br /> --[[User:Z3318446|Seow Liew]] 06:57, 19 August 2010 (UTC)<br /> <br /> <br /> Hey guys, I've found an article that is a good reference describing the test...it's a good outline of what we need to know. I've found a site about fFN that may help, nothing major though. it also has a few references of articles on there that we could research. I'm going to post the subheadings up on the main page of what i think, let me know what you think but you guys can go ahead and change it :) - Jade<br /> <br /> http://www.marchofdimes.com/professionals/14332_1149.asp<br /> <br /> http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2582650/?tool=pubmed --[[User:Z3291079|Jade Seenandan]] 03:18, 24 August 2010 (UTC)<br /> <br /> Oh and if we can find anything about further research about fFN, about improving it or something then we should add that in --[[User:Z3291079|Jade Seenandan]] 03:33, 24 August 2010 (UTC)<br /> <br /> I will do a drawing of fetal fibronectin in the womb, there's a great picture on the video that mary posted, so i will use that as a guide --[[User:Z3291079|Jade Seenandan]] 11:17, 1 September 2010 (UTC)<br /> <br /> http://www.southernhealth.org.au/icms_docs/1197_Fetal_fibronectin_Quikcheck_in_threatened_peterm_labour.pdf Just some more info to help --[[User:Z3291079|Jade Seenandan]] 13:55, 1 September 2010 (UTC)<br /> <br /> Hey guys, kinda getting worried, we should really get a move on with this assignment lol. I'm going to draw a picture today and put it up. And hopefully finish my part of this assignment. Any feedback? --[[User:Z3291079|Jade Seenandan]] 00:16, 7 September 2010 (UTC)<br /> <br /> Another helpful site guys - http://www.ffntest.com/index.html --[[User:Z3291079|Jade Seenandan]] 02:13, 8 September 2010 (UTC)<br /> <br /> hey guys don't worry about me I'm doing my work I just want to do it all before I put it up. The test results and procedure have been really easy to put together but the history is quite difficult as there is not demarcating date or person that used it first up... if that makes sense. I'll do it but I dont think I'm going to come up with a timeline like some of the other groups. --[[User:Z3252083|Mary Nicolas]] 04:06, 13 September 2010 (UTC)<br /> <br /> @Mary:it`s alright ,Mary.Put up what you think is makes sense,we can then discuss on it and edit in the remaining days.<br /> @Jade:i realise you didn`t reference your work.So, i reckon you reference your work as soon as you can.--[[User:Z3318446|Seow Liew]] 10:27, 13 September 2010 (UTC)<br /> <br /> We also need more images. It's hard to find non-copyrighted pictures for fFN. i'll draw another picture if really needed. --[[User:Z3291079|Jade Seenandan]] 12:38, 13 September 2010 (UTC)<br /> <br /> <br /> ===Improvements===<br /> <br /> Include a table on the deformities that result from pre-term births<br /> <br /> History; refer back to the outline - I'm finding it extremely hard to find stuff about the history ay--[[User:Z3291079|Jade Seenandan]] 11:49, 5 October 2010 (UTC)<br /> <br /> Pictures<br /> <br /> Images for the Procedure - I added another drawing for the procedure --[[User:Z3291079|Jade Seenandan]] 11:49, 5 October 2010 (UTC)<br /> <br /> Glossary above the references - DONE --[[User:Z3291079|Jade Seenandan]] 11:49, 5 October 2010 (UTC)<br /> <br /> Make Introduction clearer - DONE --[[User:Z3291079|Jade Seenandan]] 11:49, 5 October 2010 (UTC)<br /> <br /> Break up Current research into dot points<br /> <br /> --[[User:Z3252083|Mary Nicolas]] 00:25, 23 September 2010 (UTC)<br /> <br /> <br /> ''So we don't forget; '''the project guidelines'''''.<br /> <br /> 1. The key points relating to the topic that your group allocated are clearly described.<br /> <br /> 2. The choice of content, headings and sub-headings, diagrams, tables, graphs show a good understanding of the topic area.<br /> <br /> 3. Content is correctly cited and referenced.<br /> <br /> 4. The wiki has an element of teaching at a peer level using the student's own innovative diagrams, tables or figures and/or using interesting examples or explanations.<br /> <br /> 5. Evidence of significant research relating to basic and applied sciences that goes beyond the formal teaching activities.<br /> <br /> 6. Relates the topic and content of the Wiki entry to learning aims of embryology.<br /> <br /> 7. Clearly reflects on editing/feedback from group peers and articulates how the Wiki could be improved (or not) based on peer comments/feedback. Demonstrates an ability to review own work when criticised in an open edited wiki format. Reflects on what was learned from the process of editing a peer's wiki.<br /> <br /> 8. Evaluates own performance and that of group peers to give a rounded summary of this wiki process in terms of group effort and achievement.<br /> <br /> 9. The content of the wiki should demonstrate to the reader that your group has researched adequately on this topic and covered the key areas necessary to inform your peers in their learning.<br /> <br /> 10. Develops and edits the wiki entries in accordance with the above guidelines. --[[User:Z3252083|Mary Nicolas]] 00:49, 23 September 2010 (UTC)<br /> <br /> <br /> Hi Guys! I was just wondering if i could please get your permission to use your student drawn diagram, if you see our [[2010_Group_Project_2|page]] im making a table with all our diagrams in it, and, of course, i need your permission to use it :) Thanks! Jill - group 2 --[[User:Z3265772|z3265772]] 02:55, 23 September 2010 (UTC)</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=Talk:2010_Group_Project_5&diff=39603 2010-10-06T04:57:28Z

<p>Z3265772: </p> <hr /> <div>Hey, i was just having a general look through all the pages, and i noticed your new picture (which is awesome by the way). i thought i would let you know that the cervical canal is labeled in the wrong spot :/ hope you have time to fix it. kind regards - --[[User:Z3265772|z3265772]] 04:57, 6 October 2010 (UTC)<br /> <br /> Hi Guys! I was just wondering if i could please get your permission to use your student drawn diagram, if you see our [[2010_Group_Project_2|page]] im making a table with all our diagrams in it, and, of course, i need your permission to use it :) Thanks! Jill - group 2 --[[User:Z3265772|z3265772]] 02:54, 23 September 2010 (UTC)<br /> <br /> <br /> ==Peer review==<br /> <br /> <br /> Group 5: I found your page to be very concise and to the point and your information seems to cover all concepts without rambling on. This is a good thing because it makes reading the text straightforward and simpler to understand but at the same time i think you could still have used with some background information, perhaps in a history section, and maybe even a discussion about limitations. More pictures would also greatly improve not only the look of your page but also compliment the information and engage your reader. In terms of structure, i think that improvements could be made here to allow the information to flow better. Perhaps the 'preventions' section could be merged with &quot;what next?' because the content is related so it would be natural progression and even put into a table to aid understanding? But overall its looking good and the research is evident. good job<br /> --[[User:Z3293029|z3293029]] 21:59, 22 September 2010 (UTC)<br /> <br /> <br /> <br /> <br /> Group 5 - in terms of content, it is informative. Well done. In terms of the page aesthetics, images of fetal fibronectin itself would be useful at the start, and images especially in the Procedure section. The information is there however the use of images throughout the page and tabulating some of your information would make it more engaging and easier to understand. Remember to add a Historical background on the procedure even if it's short seeing as it is still a relatively 'new' procedure. The current research section could be rephrased more to fit into the flow of your page as a whole. Judging by the last sentence, it seems as though it has been put together by simply copy and pasting snippets from different journals. It would be more beneficial if the information given in the journals was analysed, interpreted and then presented while still referencing. This goes for the procedure also. Try to find information, understand it yourself and then 'explain' it to your audience. You will find that the page will be more cohesive as a result. Another point would be to expand the subheadings so that they clearly identify the subject matter being covered under that section as at the moment they are quite vague. Some points which could also be addressed: future of the procedure? The glossary could also be expanded. Good effort. --z3241780 14:14, 22 September 2010 (UTC)<br /> <br /> <br /> '''GROUP 5: Fetal Fibronectin'''<br /> <br /> Group 5 the first thing I have to say about your project page that I think will really help you guy out is that you need put more pictures. If I’m not mistaken the hand drawn picture at the very top is the only picture on the whole page. Pictures help captivate the audience and makes your intended audience want to read on to find out or relate the picture to the information present. They also help break up the page and allow the reader some processing time while reading the information of Fetal fibronectin. The Information you have presented is pretty much flawless being the perfect amount of scientific language, by this I mean that your assignment is assessable for pretty much anyone but more importantly the information was informative. The Dot points you have used many of the section also help us understand the project better. Last but not least you have missed out on history of the pre-natal diagnostic technique which Mark Hill said was part of his marking scheme, and after reading what other people have posted on your discussion page I notice that I’m not the only one to make this comment. Apart from that nice work!!!!<br /> <br /> --[[User:Z3252635|z3252635]] 13:23, 22 September 2010 (UTC)<br /> <br /> <br /> <br /> You have a nice and simple page, concise and to the point. Nice drawn image at the beginning of the page to draw attention I thought it was very well done. I found that the current research was good, showed some good effort with good references to backup your info about the case studies and statistics. Ways that could be improved is the use of images, so people could understand the topic better, and some tables may help to make the information more interesting. I guess more detail and elaborate more on the history. Also i wasn't sure if there were any risks involved and how common this test is done. References were good, with a nice glossary. nice effort!<br /> --[[User:Z3224500|z3224500]] 13:12, 22 September 2010 (UTC)<br /> <br /> <br /> <br /> Good content, needs a bit of colour and dynamics,,pictures, to engage the viewer,<br /> The explanation of the results that can be obtained is succinct and to the point, it is a good section. There a few typos about, I was interseted in how accurate the test was for predicting pre term births and this was dealt with well in clinical research section. This had good scientific content. A table summarising your projects views on the validity of conducting this procedure, may reinforce the topic as, as you have explained in sentences, that it is a pretty crucial diagnostic tool. With a few little things like that this is a good web page.<br /> --[[User:Z3129413]] 17:12, 22 September 2010 (UTC)<br /> <br /> <br /> <br /> Simple, good organisation and what I like about it is that they referenced a lot of their text to backup their information which i thought was very scientific. The drawn picture was nice, but overall the page needed more images and pictures to understand the topic better. A table may have been a good choice to convey some information to make it more interesting, but it is still simple so not a very big deal there. So overall, more images, and I think more longer information under some headings would provide more extensive knowledge on the topic. References are very good, with an alright glossary. <br /> Hi guys!<br /> <br /> I’m guessing that the fetal fibronectin diagram at the top of the page is your student drawn diagram. Nice job on it. You might want to more clearly indicate that it is student drawn, though, and you should probably include the copyright statement. Also, you might want to think about adding some more pictures to your page to break up the text a little bit and make the page more eye-catching and easy to look at. I have to say that I really liked the way that you’ve set out the section on the test results. It was very easy to read. If I had another suggestion, it would be to move your glossary up to before the references – I almost didn’t notice you had a glossary hidden there. If someone wasn’t really looking, they might not spot it. Other than that, nice job!--[[User:Z3252833|z3252833]] 12:45, 22 September 2010 (UTC)<br /> <br /> --Group 4 Fetal Fibronectin <br /> <br /> Although this page had not as much detail put into it compared to previous pages, I found it much easier to read and absorb information. We must take into account that they have used a variety of sources so I am speculating that this is the more important information after researching this topic. So taking this into account I believe that this page is informative on the topic using a variety of sources, but hasn’t gone too in depth. The only advice I can give is to add some pictures or diagrams, even reproduce the information in a table to make it more interesting. Thanks guys you have done a great job. <br /> <br /> --[[User:Z3290040|3290040]] 10:19, 22 September 2010 (UTC)<br /> <br /> <br /> Group 5<br /> <br /> Group 5, the set out of your page is really good, its broken up into sections and there's lots of point form throughout which makes it really clear and easy to understand, except for current research. <br /> <br /> What could be improved: More pictures would help break it up and make it more interesting, maybe a picture of the actual procedure would be good. Some more detail could be added to give it a more scientific aspect like for example in the procedure section, and maybe a section on the historic background, I think thats part of the marking criteria. Overall i think you've done a great job but just maybe add some more detail to give it a more scientific feel.<br /> <br /> --[[User:Z3292208|z3292208]] 08:21, 22 September 2010 (UTC)<br /> <br /> <br /> Fetal Fibronectin<br /> <br /> Hey guys good work with this assignment. The first thing I notice was there are not as many pictures as there are in other pages. However, what was there was relevant and easily readable.I think some more detail could be given in a few sections would help convey a more technical side of this subject matter. <br /> <br /> --[[User:Z3254753|z3254753]] 17:20, 21 September 2010 (UTC)<br /> <br /> Group 5 = I really like how all the parts are broken down into points which made it easy to follow except for the &quot;current research&quot; . It is very structured and the picture looks great.<br /> <br /> What could be improved is adding more pictures and break down the current research into bullet points but other than that its great --[[User:Z3305561|Navneet Ahuja]] 12:26, 21 September 2010 (UTC)<br /> <br /> Group 5: Foetal fibronectin <br /> What I found good about this assignment was that all the information was presented in a clear and organized manner, and did appear to have a teaching element to the project. There was a great amount of research and referencing done although it did lack a bit of a “scientific feel”.<br /> <br /> What could be improved?<br /> Some extra pictures or tables could be added and also the glossary could probably be placed above the references so that it is easier to refer to it instead of having to scroll all the way down. <br /> <br /> --[[User:Z3254433|z3254433]] 07:20, 20 September 2010 (UTC)<br /> <br /> Hi Group 5, I liked the fact that everything is referenced, it made me feel like you have really researched what you are putting on here. Your page is very informative and i learnt alot about fetal fibronectin. i liked your student drawn diagram!<br /> <br /> improvements: definitely extra pictures. If you cant find any that you can use, start emailing the companies, this is how i got most of our permissions, as i couldnt find any with permissions. as a last resort try wiki, all of their pictures arent copyright protected. Also, probably best to go through the criteria for the page, youve missed the history altogether. Here it is for you:<br /> project outline:<br /> <br /> 1. Intro<br /> <br /> 2. historic background<br /> <br /> 3. current associated research<br /> <br /> 4. simplified description of technique<br /> <br /> 5. student drawn figure or animation<br /> <br /> 6. reference list<br /> <br /> 7. glossary<br /> <br /> 8. external links <br /> <br /> --[[User:Z3265772|z3265772]] 03:46, 21 September 2010 (UTC)<br /> <br /> Reading through the information is quite easy, the headings and sub-headings makes it very clear to follow. Having questions as sub-headings makes it very user friendly to read and understand the fetal fibronectin test. However the history and development of the test is lacking. Also is the test specific for pre-mature birth detection only? please specify. The introduction also is a bit confusing where it say &quot;Fetal fibronectin is a protein based plasma that acts as a form of glue attaching the amniotic sac to the uterine wall. Fetal fibronectin is commonly present between 22 to 35 weeks of pregnancy. It is released into the upper vagina towards the onset of labour. If the test finds fFN between this period, the woman will have a chance of going into labour&quot; - what period are u talking about? when I read it, it seems to be prefering to 22-35 weeks of pregnancy as it state before, but it was mention that it was commonly to find fFN during that time, does that mean that it is common for women to have pre-mature births?<br /> <br /> What could be improve would be providing a brief history of this test and fix up the introduction so it won't be confusing to the reader.<br /> <br /> --[[User:Z3216889|3216889]] 13:53, 22 September 2010 (UTC)<br /> <br /> <br /> ----<br /> <br /> <br /> {{Template:Projects10MHtalk}}<br /> <br /> --[[User:S8600021|Mark Hill]] 00:55, 31 August 2010 (UTC) There is no content on your project page and you are not making appropriate progress. I expect you all at this weeks lab and an explanation as to why no one is adding content to your project page.<br /> <br /> ===You need to have this updated before this weeks lab when I will be reviewing all projects.===<br /> <br /> <br /> --[[User:S8600021|Mark Hill]] 04:44, 23 August 2010 (UTC) This is no where not good enough, I will need to talk to you in this weeks lab. Your group has not searched the scientific literature, found information about fibronectin or related images. Unless everyone here gets going on this project you will not be completed in time.<br /> <br /> <br /> Dez--[[User:Z3318446|Seow Liew]] 09:10, 9 August 2010 (UTC)<br /> <br /> Hi,members,i have split the work up to 3 different constituent parts and each of us will get to pick 1<br /> <br /> and do it.In addition,i have also roughly split the work up to 3 stages, which is:<br /> <br /> a)collecting the information from different sources,<br /> <br /> b)grouping the information,and<br /> <br /> c)put what we get on group page.<br /> <br /> Note:<br /> <br /> -you just need to put your name next to the capitalised heading,(e.g PART C-Dez)to indicate you are up to that part.<br /> <br /> -PART C is picked by me, so,options left are PART A and B only.<br /> <br /> -You can always add in additional info, but i think it`s better we discuss it first when we figure or find it out(the ones you cant decide if they`re your part),so that we can discussion whose part it belongs to and who should do it, to kinda maintain the flow of the content.<br /> <br /> -i`m aware that PART B is relatively short,i was outta ideas.Well, the point of PART B i make it mainly emphasizes on info related to how this test is carried out and 3rd party`s voices on this test.<br /> <br /> The 3 different parts that i have split up are as following:<br /> <br /> PART A - Jade<br /> <br /> Introduction:<br /> <br /> -what does this technique rely on?(fibronectin)<br /> <br /> -Stuff about fn ,fibronectin,like the time or stage it forms during pregnancy.<br /> <br /> -what does fn do in mom`s tummy during pregnancy.<br /> <br /> -what kind of other abnormalities can this test predict? (mainly used for the prediction of preterm birth as far as i know)<br /> <br /> <br /> <br /> -signs and events of preterm birth in mom`s tummy if there`s a high possibility the mom`s having a <br /> <br /> preterm birth,like,cervix dilation , fn leaks outta vagina,etc.<br /> <br /> -the relationship of fn and prediction of preterm birth.<br /> <br /> (like comparison of fn between pregnant woman who are not at risk of preterm birth and those who are,etc)<br /> <br /> <br /> PART B-Mary<br /> <br /> -how does the test work? like,steps and procedures involve.<br /> <br /> 3rd party`s voices:<br /> <br /> -what do the public doctors , pregnant woman say about this technique?-interview thing, vids( how this<br /> <br /> test is carried out)<br /> <br /> -related images.<br /> <br /> <br /> <br /> PART C-Dez<br /> <br /> -who should take the test?<br /> <br /> -What will the results tell about risk of delivering early?<br /> <br /> -diagnostic accuracy.<br /> <br /> -side effects.<br /> <br /> -advantages of knowing the prediction.<br /> <br /> -treatments for those who tested with positive result.<br /> <br /> <br /> <br /> One last thing,<br /> <br /> i think our primary source would be pubmed,of course there`re others too, but then the info isnt as<br /> <br /> extensive and specific as pubmed,so go to it,look for the related journals and extract only details that<br /> <br /> you need.<br /> <br /> It`d be great if we could find more images and videos related to the info we get,by doing so,we could<br /> <br /> make the page less lengthy and readers understand it better.<br /> <br /> Looking forward to your comments,because i could be wrong.<br /> <br /> <br /> <br /> --[[User:Z3291079|z3291079]] 12:21, 16 August 2010 (UTC)<br /> We should probably add something about the history of fetal f. Fit it in with part B?<br /> <br /> heey , sorry for the late reply.Yea, it fits in with part B , sounds reasonable.<br /> Do you have any idea what it could be? and post some links on here , if you have some with you.<br /> --[[User:Z3318446|Seow Liew]] 06:57, 19 August 2010 (UTC)<br /> <br /> <br /> <br /> Hey guys I found a really good article about that defines what fetal fibronectin is and how it is used to determine preterm labour. I Don't know if I can copy paste because of the copyright and I forgot how to make a link so the website is http://www.ranzcog.edu.au/publications/statements/C-obs26.pdf , It's got bits and pieces of everyones parts if You guys want to look through it and pick out what would be of help to you. Also I found a video. It's that doctor that goes onto the Dr Phil show but it's pretty good. It was one of few that I could find soo look at it and tell me what you think. Its website is http://www.5min.com/Video/Learn-about-Fetal-Fibronectin-Test-114223707. If you can find any videos just post them up because I don't think there are many around. Also I've found articles that question the tests ability to undermine the occurrence of the pre-term birth. I don't know if this is significant enough to add in as we are essentially talking about it's role in identifying whether or not the mother is going to have a pre-term birth or not instead of whether the doctor can stop it. Tell me what you think. should I add it in or not? You can find the article at http://journals.lww.com/greenjournal/Abstract/1996/05000/The_Preterm_Prediction_Study__Fetal_Fibronectin.1.aspx. --[[User:Z3252083|Mary Nicolas]] 10:09, 18 August 2010 (UTC)<br /> <br /> I think it is significant enough as it is an issue around this technique.I`d say add it in.<br /> --[[User:Z3318446|Seow Liew]] 07:12, 19 August 2010 (UTC)<br /> <br /> Yeah add this in cos you can say how it is a good technique but is not the best etc., etc. This could cover the topic of the reliability of this technique which we can look through. Some additional info i guess. --[[User:Z3291079|Jade Seenandan]] 03:02, 24 August 2010 (UTC)<br /> <br /> Mary, you have one more part to do , which is the history of fetal fibronectin.( Like what inspired the Doc came up with this technique and is this technique a modified version of some technique, and of course it`d be great if you could find stuff like when the first time this technique was put to use, how was it and talk a little bit about the following tests,and important people involved.)<br /> --[[User:Z3318446|Seow Liew]] 06:57, 19 August 2010 (UTC)<br /> <br /> <br /> Hey guys, I've found an article that is a good reference describing the test...it's a good outline of what we need to know. I've found a site about fFN that may help, nothing major though. it also has a few references of articles on there that we could research. I'm going to post the subheadings up on the main page of what i think, let me know what you think but you guys can go ahead and change it :) - Jade<br /> <br /> http://www.marchofdimes.com/professionals/14332_1149.asp<br /> <br /> http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2582650/?tool=pubmed --[[User:Z3291079|Jade Seenandan]] 03:18, 24 August 2010 (UTC)<br /> <br /> Oh and if we can find anything about further research about fFN, about improving it or something then we should add that in --[[User:Z3291079|Jade Seenandan]] 03:33, 24 August 2010 (UTC)<br /> <br /> I will do a drawing of fetal fibronectin in the womb, there's a great picture on the video that mary posted, so i will use that as a guide --[[User:Z3291079|Jade Seenandan]] 11:17, 1 September 2010 (UTC)<br /> <br /> http://www.southernhealth.org.au/icms_docs/1197_Fetal_fibronectin_Quikcheck_in_threatened_peterm_labour.pdf Just some more info to help --[[User:Z3291079|Jade Seenandan]] 13:55, 1 September 2010 (UTC)<br /> <br /> Hey guys, kinda getting worried, we should really get a move on with this assignment lol. I'm going to draw a picture today and put it up. And hopefully finish my part of this assignment. Any feedback? --[[User:Z3291079|Jade Seenandan]] 00:16, 7 September 2010 (UTC)<br /> <br /> Another helpful site guys - http://www.ffntest.com/index.html --[[User:Z3291079|Jade Seenandan]] 02:13, 8 September 2010 (UTC)<br /> <br /> hey guys don't worry about me I'm doing my work I just want to do it all before I put it up. The test results and procedure have been really easy to put together but the history is quite difficult as there is not demarcating date or person that used it first up... if that makes sense. I'll do it but I dont think I'm going to come up with a timeline like some of the other groups. --[[User:Z3252083|Mary Nicolas]] 04:06, 13 September 2010 (UTC)<br /> <br /> @Mary:it`s alright ,Mary.Put up what you think is makes sense,we can then discuss on it and edit in the remaining days.<br /> @Jade:i realise you didn`t reference your work.So, i reckon you reference your work as soon as you can.--[[User:Z3318446|Seow Liew]] 10:27, 13 September 2010 (UTC)<br /> <br /> We also need more images. It's hard to find non-copyrighted pictures for fFN. i'll draw another picture if really needed. --[[User:Z3291079|Jade Seenandan]] 12:38, 13 September 2010 (UTC)<br /> <br /> <br /> ===Improvements===<br /> <br /> Include a table on the deformities that result from pre-term births<br /> <br /> History; refer back to the outline - I'm finding it extremely hard to find stuff about the history ay--[[User:Z3291079|Jade Seenandan]] 11:49, 5 October 2010 (UTC)<br /> <br /> Pictures<br /> <br /> Images for the Procedure - I added another drawing for the procedure --[[User:Z3291079|Jade Seenandan]] 11:49, 5 October 2010 (UTC)<br /> <br /> Glossary above the references - DONE --[[User:Z3291079|Jade Seenandan]] 11:49, 5 October 2010 (UTC)<br /> <br /> Make Introduction clearer - DONE --[[User:Z3291079|Jade Seenandan]] 11:49, 5 October 2010 (UTC)<br /> <br /> Break up Current research into dot points<br /> <br /> --[[User:Z3252083|Mary Nicolas]] 00:25, 23 September 2010 (UTC)<br /> <br /> <br /> ''So we don't forget; '''the project guidelines'''''.<br /> <br /> 1. The key points relating to the topic that your group allocated are clearly described.<br /> <br /> 2. The choice of content, headings and sub-headings, diagrams, tables, graphs show a good understanding of the topic area.<br /> <br /> 3. Content is correctly cited and referenced.<br /> <br /> 4. The wiki has an element of teaching at a peer level using the student's own innovative diagrams, tables or figures and/or using interesting examples or explanations.<br /> <br /> 5. Evidence of significant research relating to basic and applied sciences that goes beyond the formal teaching activities.<br /> <br /> 6. Relates the topic and content of the Wiki entry to learning aims of embryology.<br /> <br /> 7. Clearly reflects on editing/feedback from group peers and articulates how the Wiki could be improved (or not) based on peer comments/feedback. Demonstrates an ability to review own work when criticised in an open edited wiki format. Reflects on what was learned from the process of editing a peer's wiki.<br /> <br /> 8. Evaluates own performance and that of group peers to give a rounded summary of this wiki process in terms of group effort and achievement.<br /> <br /> 9. The content of the wiki should demonstrate to the reader that your group has researched adequately on this topic and covered the key areas necessary to inform your peers in their learning.<br /> <br /> 10. Develops and edits the wiki entries in accordance with the above guidelines. --[[User:Z3252083|Mary Nicolas]] 00:49, 23 September 2010 (UTC)<br /> <br /> <br /> Hi Guys! I was just wondering if i could please get your permission to use your student drawn diagram, if you see our [[2010_Group_Project_2|page]] im making a table with all our diagrams in it, and, of course, i need your permission to use it :) Thanks! Jill - group 2 --[[User:Z3265772|z3265772]] 02:55, 23 September 2010 (UTC)</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=Talk:2010_Group_Project_2&diff=39601 2010-10-06T04:50:36Z

<p>Z3265772: </p> <hr /> <div>LOVE our page!!! looks awesome! i think we have done everything we can to get maximum marks, and i have learnt heaps doing it! Dont forget Mark is locking the page at some stage as its due tomorrow (i think he will prob lock them tomorrow morning or something). If you need help with any of your sections let me know, i have finished my bits :D yay!! --[[User:Z3265772|z3265772]] 04:50, 6 October 2010 (UTC)<br /> <br /> <br /> <br /> Umm.. I'm not sure about that, because the sources I found mosaicism on had it in their &quot;limitations&quot; heading... --[[User:Z3224500|Jenny Huang]] 22:11, 26 September 2010 (UTC)--[[User:Z3224500|Jenny Huang]] 22:11, 26 September 2010 (UTC)<br /> <br /> <br /> <br /> Hey Jenny, do you think Mosaicism should be in the abnormalities found by CVS section? a few people have commented that its a bit confusing what the test detects and the risks associated with testing. i think Mosaicism is more under the heading of what cvs detects --[[User:Z3265772|z3265772]] 04:16, 23 September 2010 (UTC)<br /> <br /> hey jill,<br /> group 6 here, you may use our picture<br /> <br /> --[[User:Z3254433|z3254433]] 09:07, 26 September 2010 (UTC)<br /> <br /> ===to fix===<br /> <br /> '''Begin''' by collating the comments.<br /> * What are the common criticisms?<br /> * What were the best aspects identified within your project?<br /> * What errors, typos, missing references were identified?<br /> * Were there contributions from individual group members that were identified as good or poor parts of the overall project?<br /> <br /> '''Then''' work on the changes.<br /> * Develop priorities.<br /> * Divide the changes and corrections between group members.<br /> * Are there additional changes that should be made that were not identified by peer assessment.<br /> <br /> <br /> '''Jill:'''<br /> <br /> DONE abnormalities, maybe just adjust the cells of the table a little so the spacing appears more even as some cells have very little content while others are completely filled. What about the future of CVS? Is it a procedure that is going to continue as simply diagnostic? Is it being superseded by another procedure? comparative genomics, Improvements?<br /> <br /> DONE future role of CVS in prenatal diagnosis or even the role of invasive procedures altogether<br /> <br /> DONE move glossary above references so you dont have to scroll all the way down to read them<br /> <br /> DONE table comparing other techniques<br /> <br /> DONE got confused between the risks of this test and what it predicted (this will be clear in the above table)<br /> <br /> DONE -it didn't state that the test was invasive in intro (table)<br /> <br /> DONE -All spelling amd grammar - some more editing of spelling is required<br /> <br /> DONE &quot;abnormalities found by CVS&quot; section towards the top of the page coz I got confused between the risks of this test and what it predicted<br /> <br /> DONE -link or a reference to the brief time line where you state the names of the authors <br /> <br /> DONE -The only advice I can give is to maybe separate the difference between normal and abnormal chromosomes and the adjacent table to allow the table more room and be easily viewed <br /> <br /> DONE -I just wonder where the files came from – I saw you put up the copyright notices, but I couldn’t find the file sources <br /> <br /> DONE -a little more reference in the &quot;result and accuracy&quot; section since it includes some percentage other than that fantastic work <br /> <br /> DONE - it would be that you put the advantages/disadvantages of CVS over other techniques in a table.<br /> <br /> <br /> <br /> <br /> '''Jenny:'''<br /> <br /> flowchart or more pictures of procedure <br /> <br /> DONE clarify what hypertension is in the hypertensive disorders of pregnancy section<br /> <br /> outcomes + ethics,<br /> <br /> DONE Are the transabdominal and the transcervical pictures the student-drawn ones? put up in discussion that you drew them and you give permission for re-use - Jenny, ive done this for you, all you need to do is edit and add your student number, -Jill<br /> <br /> DONE elaborate on procedure eg what cells are being taken etc and stages of chorionic villus in embryology<br /> <br /> DONE Spelling and grammar, - Jenny, ive gone through the page and edited the spelling mistakes i could find, could you please do the same incase ive missed any? and double check the sections you are about to write? Thanks :) - Jill --[[User:Z3265772|z3265772]] 00:33, 24 September 2010 (UTC)<br /> <br /> The current research section could be put more into point form to make it more inviting to read - not sure if you want to do this, i think its ok as it is, maybe just delete this suggestion? or add pictures of people researching? haha<br /> <br /> <br /> ----<br /> <br /> ==Peer Review==<br /> <br /> '''Please note!''' when posting your peer review, we only have two group members. the other one dropped out. Thanks :)<br /> <br /> --[[User:Z3129413]] 16:29, 22 September 2010 (UTC)<br /> I love those old timey pencil medical pictures and so for me this was really great, what instantly nailed the whole positive immediate impression was 'Reasons for getting chorionic villus sampling etc etc' right there at the beginning. Why would I get one? thanks very much. Perhaps a darker font would make it even better. Historical back ground is really good and technique pictures are of high standard. The table presentation of abnormalities found and ratios is such an effective way of portraying this information.<br /> <br /> A few Q's with the hypertension cvs topic, <br /> Is there a normally expected percent of women in a large population to develop hypertensive disorders, just for perspective? CVS would not lower incidences of such surely (9098 pop, 2.7% to 7.1% control). 138 study size seems a bit low, is result really much more significant? However I did understand that CVS was more risk prone than amniocentesis for pre eclampsia and gestational hypertension.<br /> This project is well on track.<br /> <br /> <br /> <br /> <br /> Group 2: Your project is very impressive in content as well as organisation. The most notable thing for me was the wide use of pictures which must have taken a lot of time and effort to source. They definitely create an engaging page especially in conjunction with the use of tables and clear subheadings. The structure you have used is very effective as it allows your information to be scientific and thorough but at the same time it is concise and easy to navigate. I felt like i got an extensive overview of CVS after having read your page and the use of pictures and subheadings kept it from being a chore. I felt the history and abnormalities sections were particularly interesting. I also appreciate how you have seemed to approach this topic from all angles and not just a one-sided, all current and positive viewpoint. To improve your page perhaps you could explore the future role of CVS in prenatal diagnosis or even the role of invasive procedures altogether. Either way your page is probably up to standard as it is and it is obvious that you have worked hard at it. Job well done.<br /> --[[User:Z3293029|z3293029]] 14:38, 22 September 2010 (UTC)<br /> <br /> <br /> <br /> <br /> <br /> <br /> Group 2: fantastic use of images, it definitely worked to your advantage in engaging your audience's attention. Over all the language used is relatively easy to follow yet informative. As someone has already mentioned, some more editing of spelling is required. The amount of attention to detail is evident in the references which are from a range of sources so well done. I particularly liked that the page covered accuracy and limitations of the diagnostic procedure. Something that lacked clarity in a few other groups. Good use of the table covering the abnormalities, maybe just adjust the cells of the table a little so the spacing appears more even as some cells have very little content while others are completely filled. What about the future of CVS? Is it a procedure that is going to continue as simply diagnostic? Is it being superseded by another procedure? Improvements?<br /> Just an idea. Well done overall. --z3241780 13:40, 22 September 2010 (UTC) <br /> <br /> <br /> '''GROUP 2: Chorionic Villi Sampling''' <br /> <br /> This page caught my attention as soon as I saw it and that made me want to read on and thus learn about Chorionic Villi Sampling. A lot of research has gone into this assignment and it’s evident in the information presented as its precise which also helps capture the readers. The amount of research is also evident in the long list of references. The webpage is actually extremely informative covering pretty much every aspect of the pre-natal diagnostic techniques. Your webpage has the most pictures and this helps it stand out as one of the best project pages. I really, really like the formatting and the tables. The images break up the information so you’re never overloaded with the amount of text. The only bit of criticism is spelling but this is extremely minor as you’ll pick up on the spelling mistakes when you go over the page. The language in is the right mixture of scientific language meaning that even people without a scientific background can understand the CVS. Great job guys you really can’t tell that only two people are in this group. It’s extremely good!!! I also really like the first picture you have, gives a page a really good feel to it.<br /> <br /> --[[User:Z3252635|z3252635]] 13:20, 22 September 2010 (UTC)<br /> <br /> <br /> <br /> Hi guys!<br /> <br /> You have found so many great pictures! Your page looks amazing. I just wonder where the files came from – I saw you put up the copyright notices, but I couldn’t find the file sources. Your timeline was great too; I really like how you put up the concise timeline and then expanded a bit on the major developments afterwards. Are the transabdominal and the transcervical pictures the student-drawn ones? If so, well done! They’re really clear and beautifully done, but you should probably label them as student drawn and put in the copyright statement. If I could suggest something, it would be that you put the advantages/disadvantages of CVS over other techniques in a table. Otherwise, your page is really easy to read, and again has brilliant visuals – great job!--[[User:Z3252833|z3252833]] 12:42, 22 September 2010 (UTC)<br /> <br /> <br /> CVS.<br /> <br /> Group 2, your project is looking great, the first thing i noticed when reading it is that there is lots of detail which shows a great depth of research has gone into it, which is supported by your reference list. Another thing is the amount of pictures which support the information and break it up to make it easier to take in so much information at once. The disorders table provides great detail and makes it interesting with the pictures.<br /> <br /> What could be improved: You could put the advantages/disadvantages into a table form to make it even easier to understand. The reasons to use this technique could be slotted into the procedure section instead of the introduction maybe as it shows who is eligible for the procedure. The current research section could be put more into point form to make it more inviting to read. But overall really great project.<br /> <br /> --[[User:Z3292208|z3292208]] 08:55, 22 September 2010 (UTC)<br /> <br /> <br /> This project is extremely well done. It seems a great effort has gone into proper referencing which also gives the impression of a thoughtful attempt. The balance of information mediums is great and the logical flow of ideas when reading through each section is perfect.<br /> Suggestion: possibly more pictures or a flowchart of the procedure itself? <br /> <br /> Well done :)<br /> <br /> --[[User:Z3254753|z3254753]] 16:55, 21 September 2010 (UTC)<br /> <br /> Group 2- This project had tons of photos which is super great because its much easier to follow... Most of the point made is supported with pictures ..definetly provided me a better understanding of CVS ..I agree with what others have mentioned its very informative and especially with just 2 team members .. fantastic work <br /> <br /> what could be improved = a little more reference in the &quot;result and accuracy&quot; section since it includes some percentage other than that fantastic work ..--[[User:Z3305561|Navneet Ahuja]] 12:53, 21 September 2010 (UTC)<br /> <br /> Group project 2: chorionic villus sampling <br /> <br /> This group had great images and the page layout was good too especially the tables which simplified the information and made it easier to read. The information presented was very informative, scientific, and all the key concepts were covered on the topic. The project had a very impressive reference list, and it did help in my understanding of this prenatal diagnostic technique.<br /> <br /> What could be improved?<br /> I did find a spelling mistake under the heading Results and Accuracy were you have written “maybe” instead of “baby”, so maybe proof read the assignment to pick up on any other possible spelling or grammatical errors, other than that well done.<br /> <br /> --[[User:Z3254433|z3254433]] 07:15, 20 September 2010 (UTC)<br /> <br /> This project was highly informative about CVS. It contained a lot of information in which it shows that a lot of research has gone into it. Everything has been covered like, what the test predicts and what risks are associated with this test. It was very scientific, yet easy to understand at a non-scientific level. I liked the external links how it directed me straight to a page of different articles about CVS. <br /> <br /> What could be improved is maybe placing the &quot;abnormalities found by CVS&quot; section towards the top of the page, because i was a bit unsure on what this test predicted in the first place. I got confused between the risks of this test and what it predicted. But I managed to understand it all once all read through. Also, a definition of a &quot;cannula&quot; may be helpful in the glossary too, i wasn't sure what that exactly was.<br /> <br /> --[[User:Z3291079|z3291079]] 02:48, 21 September 2010 (UTC)<br /> <br /> This project provides a clear understanding of the key information regarding CVS, such as how it is carried out, the risks and benfits of CVS, what it is used for as well as future research. I have find the pictures to be of a great help in explaining the procedure of CVS.<br /> <br /> One think I did notice was that, it didn't state that the test was invasive until you figure it out when you look at the pictures in the procedures. I think stating that in the introduction would make it clearer for readers to follow on with the information this projects provides having that knowledge in mind at the start.<br /> <br /> --[[User:Z3216889|3216889]] 12:13, 22 September 2010 (UTC)<br /> <br /> <br /> This web page is definitely one of my favorites. The information that you have provided is exceptional; the reference list is indicative of your extensive research. The table of deformities was a stand out for me as it was very well set out and was a effective break from the text. You also used excellent external links that were very well placed within the web page. A slight improvement would be to include a link or a reference to the brief time line where you state the names of the authors, and as previously mentioned, reference the statistics that you have included. Other than that, I applaud you for a job well done!--[[User:Z3252083|z3252083]] 12:22, 22 September 2010 (UTC)<br /> <br /> --Group 2 Chronic villus sampling<br /> This webpage shows that the group was very thorough in the research due to the amount of detail that has gone into it and its many links. The layout is very well set out which helps someone understand it if he/she has no previous knowledge of the concept. The use of pictures and diagrams were done well as it broke the page up making it very easy to read and take in the information. The only advice I can give is to maybe separate the difference between normal and abnormal chromosomes and the adjacent table to allow the table more room and be easily viewed. That’s all guys and well done considering you only had 2 people working on it. <br /> <br /> --[[User:Z3290040|3290040]] 10:19, 22 September 2010 (UTC)<br /> <br /> <br /> ----<br /> <br /> <br /> ----<br /> <br /> ===group discussion===<br /> <br /> <br /> I agree the page feels more &quot;in order&quot; now. yeh... its tough trying to find more information. I guess i'll expand on maybe on some of the abnormalities? I was thinking we can get pictures of the several diseases but it will probably be a little difficult due to copyright? hmm if i get new ideas from now until tommorrow i'll definately add more stuff in --[[User:Z3224500|Jenny Huang]] 06:38, 15 September 2010 (UTC)<br /> <br /> <br /> <br /> Hey Jenny, i changed the order of the page around, i think it makes more sense now, before it didnt really flow from one section to the next, i think its a bit better, i tried to do it on this order, Intro, history, procedure, results, risks, advantages. that order seems to be how most wiki pages are set up, and how mark sets up his pages. what do you think? -Jill --[[User:Z3265772|z3265772]] 02:14, 15 September 2010 (UTC)<br /> <br /> <br /> i think i searched prenatal diagnosis in the search box on the left, and mark has made a prenatal diagnosis page. the prenatal diagnosis terms were on that. ive been looking at last years pages, and they have so much content, but there just isnt that much information on CVS. theres only so much you can write about it. i guess we need to start thinking outside the box and adding general prenatal stuff on here too. thats why i thought maybe another table with a timeline of other techniques on it. ? ill just do it and see how it looks... -Jill --[[User:Z3265772|z3265772]] 01:47, 15 September 2010 (UTC)<br /> <br /> <br /> hmm good idea.. btw what article did you find the terms for the prenatal diagnosis? should i incorporate that in the results section? --[[User:Z3224500|Jenny Huang]] 15:19, 14 September 2010 (UTC)<br /> <br /> <br /> maybe we could also do ethical issues? -Jill --[[User:Z3265772|z3265772]] 12:35, 14 September 2010 (UTC)<br /> <br /> Just an idea if we wanted to add more to the page, we could do another table, with the different diagnostic techniques used - eg ultrasound, AFP, amniocentesis and CVS etc and do a timeline with when each technique can be used, what it can test for, and how invasive it is. i know its not directly CVS, but it will give a good overview of the advantages and disadvantages etc. and im running out of ideas of what else we can have on here. can you think of anything else? -Jill --[[User:Z3265772|z3265772]] 12:30, 14 September 2010 (UTC)<br /> <br /> <br /> Found out its due thurs, Sorry!! im doing malformations now, but we definitely need to add more content, last years pages had over 600 revisions, we only have 200. So add whatever you think we could do to improve the page. Thanks for your help over the weekend, i did feel alone in creating the page! Looks great now though! Maybe we could look at last years pages and see what we like about them, and maybe get some ideas on how to add to our page. im trying to put alot of effort in as its worth 20% of our final mark :) ive also added to the malformations part, ill keep doing that. Thanks!! -Jill --[[User:Z3265772|z3265772]] 02:24, 13 September 2010 (UTC)<br /> <br /> <br /> <br /> Hey can't make it to lecture today.. but if its due for peer assesment today/this week, what suggestions do you think we can improve on? hmm also whos doing the part on malformations? --[[User:Z3224500|Jenny Huang]] 23:07, 12 September 2010 (UTC)<br /> <br /> <br /> yeah good question.. ill see if i can find something more recent and let you know. i guess it would be. also, hope you dont mind, i put some of your references in, and added some pictures :) -Jill --[[User:Z3265772|z3265772]] 13:00, 12 September 2010 (UTC)<br /> <br /> <br /> Hey for the section on malformations in current research, would it be limb defects? the articles I found were mostly from the 1990s so I'm not sure if I should use..--[[User:Z3224500|Jenny Huang]] 12:49, 12 September 2010 (UTC)<br /> <br /> <br /> Yay it looks neat!!!glad you figured out how to fix the formatting.. It was rather confusing before haha. SOrry if it seems like you are doing most of the work :( I'll add to the current research to lighten off your load.i'll be working on it most of the weekend--[[User:Z3224500|Jenny Huang]] 16:39, 10 September 2010 (UTC)<br /> <br /> <br /> I made a table!! it took AGES but it looks good :) we probably need to spread everything out a bit, it looks a bit crowded, but getting there! i separated the risks from current research :)- Jill --[[User:Z3265772|z3265772]] 12:03, 10 September 2010 (UTC)<br /> <br /> <br /> <br /> Hmm it didn't take that long.. btw I've already done it but I haven't uploaded it yet but I'll do so now... hmm by the way should the heading &quot;risks&quot; be separate from the &quot;current assosciated research&quot; heading?--[[User:Z3224500|Jenny Huang]] 02:53, 10 September 2010 (UTC)<br /> <br /> Hey! Did it take long to do the drawing for the transabdominal technique? i was thinking we could do a second one the same for transcervical. what do you think? - Jill --[[User:Z3265772|z3265772]] 02:09, 10 September 2010 (UTC)<br /> <br /> <br /> <br /> Im pretty sure its due monday for peer assessment, thats what it says in the course guide. did he say it was due thurs in the lab last week? hope its due thurs! that would be awesome! - Jill --[[User:Z3265772|z3265772]] 12:00, 9 September 2010 (UTC)<br /> <br /> <br /> <br /> <br /> Hey Jill, wow only 4 days! I was mistaken that it was due next thursday. But don't wrry, I'll have the whole weekend to finish up ;)--[[User:Z3224500|Jenny Huang]] 08:30, 9 September 2010 (UTC)<br /> <br /> <br /> <br /> <br /> Hi! Ive used a reference that is not from pub med, so you can copy that to use references that arent in pub med. :) only 4 days till its due! - Jill --[[User:Z3265772|z3265772]] 01:29, 9 September 2010 (UTC)<br /> <br /> <br /> <br /> <br /> some pictures we can use, this first one is Primary chorionic villi, the second picture is secondary chorionic villi, these may be helpful when describing the technique -Jill --[[User:Z3265772|z3265772]] 09:52, 7 September 2010 (UTC)<br /> <br /> <br /> [[File:Gray36.png|left|400 px]]<br /> <br /> <br /> [[File:Gray37.png|left|400 px]]<br /> <br /> <br /> <br /> <br /> <br /> <br /> Hmm so basically we do the peer review the week after mid sem break until the 23rd of september, and we paste both the review on the groups page and on your own page... also apparently the other student discontinued the course so its just us doing the project now =S --[[User:Z3224500|Jenny Huang]] 03:02, 2 September 2010 (UTC)<br /> <br /> <br /> <br /> Yay!! looks awesome!! Sorry i couldnt be there today, could you let me know what Mark says? thanks :) - Jill --[[User:Z3265772|z3265772]] 23:59, 1 September 2010 (UTC)<br /> <br /> <br /> <br /> I've uploaded the first pic... I hope it's ok and if I did the layers wrongly please tell me so I can edit... also how do you do referencing that is not from pubmed journals?--[[User:Z3224500|Jenny]] 23:18, 1 September 2010 (UTC)<br /> <br /> <br /> <br /> Hi Jenny, are you doing the drawn figure still? would you possibly be able to upload it before thursday? i have updated references for my section :) - Jill --[[User:Z3265772|z3265772]] 08:52, 1 September 2010 (UTC)<br /> <br /> <br /> <br /> --[[User:S8600021|Mark Hill]] 00:49, 31 August 2010 (UTC) I have emailed your missing team member , but have not had a response yet. Your should continue to work on the project together as best you can. It seems to be progressing, though I did ask you to update your reference format and I do not see a student drawn figure. You need to have this updated before this weeks lab when I will be reviewing all projects.<br /> <br /> <br /> <br /> <br /> <br /> Hi Jill, I'm working on it :) by the way have you heard from the other team member? Oh and I'll be drawing pictures for both the transcervical and transabdominal techniques..--[[User:Z3224500|Jenny Huang]] 07:46, 30 August 2010 (UTC)<br /> <br /> <br /> <br /> Hi guys, only two weeks to go, we really need to do some more work, the editing at the end will be the hardest, so the sooner we finish, the easier it will be. - Jill--[[User:Z3265772|z3265772]] 23:46, 29 August 2010 (UTC)<br /> <br /> <br /> <br /> Can we incorporate some sort of timeline? what do you think? maybe we can do a timeline of embryo development and note the time that CVS is done - Jill --[[User:Z3265772|z3265772]] 00:57, 26 August 2010 (UTC)<br /> <br /> <br /> <br /> Mark has kindly shown us how to reference, ill try to sort that out tonight or tomorrow - Jill --[[User:Z3265772|z3265772]] 23:16, 25 August 2010 (UTC)<br /> <br /> <br /> <br /> Ive just discovered, you can use almost any picture on wiki, the copyrights have usually expired, which is why wiki can use them, just search CVS on wiki and if there is a picture you like, check the copyright and copy away!! :D -Jill --[[User:Z3265772|z3265772]] 01:05, 25 August 2010 (UTC)<br /> <br /> <br /> <br /> Hi guys, please feel free to edit any work i have done, or add to it, or even suggest to me on this page what to add. what i have put up so far really is a rough draft and will be trying to add to it later anyway :) -Jill --[[User:Z3265772|z3265772]] 00:50, 25 August 2010 (UTC)<br /> <br /> <br /> <br /> {{Template:Projects10MHtalk}}<br /> <br /> <br /> <br /> Hi guys, we need to get on top of this, its due for peer assessment in 3 weeks! Im going to do related research. does anyone want to do the drawing? ill also try and get some more references and photos up, as Mark has suggested. If you want a picture, just email the website with the picture on it, thats what ive been doing, they are usually pretty good about it. let me know of any other ideas you guys might have - Jill --[[User:Z3265772|z3265772]] 09:50, 23 August 2010 (UTC)<br /> <br /> <br /> <br /> --[[User:S8600021|Mark Hill]] 04:35, 23 August 2010 (UTC) OK there are a few references here, but you will need more than these few and there should be some related images.<br /> <br /> <br /> <br /> Link for group assessment criteria: [[2010_Lab_1#Group_Assessment_Criteria|group assessment criteria]] - Jill--[[User:Z3265772|z3265772]] 00:50, 25 August 2010 (UTC)<br /> <br /> <br /> <br /> For current associated research:<br /> <br /> <br /> http://onlinelibrary.wiley.com/doi/10.1002/pd.2410/abstract<br /> <br /> http://www.ncbi.nlm.nih.gov/pubmed/11263542<br /> <br /> http://www.ncbi.nlm.nih.gov/pubmed/19683693<br /> <br /> http://www.sciencedirect.com/science?_ob=ArticleURL&amp;_udi=B6T7V-4BWVXPY-F9&amp;_user=10&amp;_coverDate=03%2F31%2F1994&amp;_rdoc=1&amp;_fmt=high&amp;_orig=search&amp;_sort=d&amp;_docanchor=&amp;view=c&amp;_searchStrId=1427646674&amp;_rerunOrigin=google&amp;_acct=C000050221&amp;_version=1&amp;_urlVersion=0&amp;_userid=10&amp;md5=a3c3f2d47ad01c562a3baea8c60a48bc<br /> <br /> http://www.informaworld.com/smpp/content~db=all~content=a913951525<br /> <br /> http://www.escardiocontent.org/periodicals/ejcpr/article/S0002-9378%2807%2900305-5/abstract<br /> <br /> http://humrep.oxfordjournals.org/cgi/content/abstract/3/6/811<br /> <br /> - Jill--[[User:Z3265772|z3265772]] 00:50, 25 August 2010 (UTC)<br /> <br /> Hi guys, i put up the link for Search Pubmed for our topic, did we want to assign ourselves a role to do or just see how the page goes? i thought maybe we could find a page that we like and follow a similar format, that way we know what our page will look like and can follow a layout as we go. -Jill --[[User:Z3265772|z3265772]] 01:12, 9 August 2010 (UTC)<br /> <br /> <br /> also, see this web page http://www.cdc.gov/mmwr/preview/mmwrhtml/00038393.htm Jill --[[User:Z3265772|z3265772]] 11:16, 9 August 2010 (UTC)<br /> <br /> <br /> project outline: <br /> <br /> 1. Intro<br /> <br /> 2. historic background<br /> <br /> 3. current associated research<br /> <br /> 4. simplified description of technique<br /> <br /> http://journals.lww.com/co-obgyn/Abstract/2010/04000/Chorionic_villus_sampling__technique_and_training.11.aspx<br /> <br /> 5. student drawn figure or animation<br /> <br /> 6. reference list<br /> <br /> 7. glossary<br /> <br /> 8. external links<br /> <br /> -Jill --[[User:Z3265772|z3265772]] 03:05, 11 August 2010 (UTC)<br /> <br /> <br /> Can anyone tell me how to paste a picture from an outside source? i cant seem to figure it out. thanks :) <br /> -Jill --[[User:Z3265772|z3265772]] 05:03, 11 August 2010 (UTC)<br /> <br /> dont worry, i figured it out :)<br /> <br /> <br /> i think we should put the references list on this page to begin with to make sure we dont double up <br /> - Jill --[[User:Z3265772|z3265772]] 05:31, 11 August 2010 (UTC)<br /> <br /> Hey guys sorry for the delay in replies. I see you have made a contribution to the topic already :) By the way, where did you find the project outline criteria? Oh and if you don't mind I can do research on the description of technique and current research. Feel free to contribute :) oh and any ideas on how to work on the drawings? --[[User:Z3224500|Jenny Huang]] 15:29, 11 August 2010 (UTC)<br /> <br /> <br /> Hello guys,<br /> <br /> So I found some journal articles that is of interest especially this one: http://apps.who.int/rhl/reviews/langs/CD003252.pdf which is long and has extensive information on the topic..<br /> So I'll be editing my section in word and will be posting some info on technique in the future.<br /> <br /> Btw here are some other articles that are of interest that can be accessed through unsw sirius:<br /> <br /> <br /> <br /> http://linkinghub.elsevier.com/retrieve/pii/S0889854505702916<br /> <br /> http://journals.lww.com/co-obgyn/Abstract/2010/04000/Chorionic_villus_sampling__technique_and_training.11.aspx<br /> <br /> http://journals.lww.com/co-obgyn/Abstract/2005/04000/Chorionic_villus_sampling_and_amniocentesis.16.aspx<br /> <br /> Complications:<br /> <br /> http://journals.lww.com/greenjournal/Abstract/2007/09000/Procedure_Related_Complications_of_Amniocentesis.24.aspx<br /> <br /> http://journals.lww.com/greenjournal/Abstract/2008/10000/Evaluating_the_Rate_and_Risk_Factors_for_Fetal.12.aspx<br /> <br /> I'll be adding more once I find some that are useful..<br /> <br /> <br /> Oh and about the topic headings are we just going to use the ones in the assesment criteria?<br /> <br /> <br /> --[[User:Z3224500|z3224500]] 15:03, 24 August 2010 (UTC)<br /> <br /> <br /> Hey Jenny!! i think its a great idea to use more headings, add as many as you like/can think of, i just cant think of any more. i think the assessment criteria is just the bare minimum we have to do, so please add more! Also, can we add the new discussion posts to the top of the page? so we dont have to scroll to the bottom every time? what do you think? (it says up the top of this page to add newer material at the top, just wondering what you thought). i really like the articles you have found too :) see you tomorrow <br /> - Jill --[[User:Z3265772|z3265772]] 00:29, 25 August 2010 (UTC)</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=Talk:2010_Group_Project_2&diff=39582 2010-10-06T04:05:02Z

<p>Z3265772: </p> <hr /> <div>Umm.. I'm not sure about that, because the sources I found mosaicism on had it in their &quot;limitations&quot; heading... --[[User:Z3224500|Jenny Huang]] 22:11, 26 September 2010 (UTC)--[[User:Z3224500|Jenny Huang]] 22:11, 26 September 2010 (UTC)<br /> <br /> <br /> <br /> Hey Jenny, do you think Mosaicism should be in the abnormalities found by CVS section? a few people have commented that its a bit confusing what the test detects and the risks associated with testing. i think Mosaicism is more under the heading of what cvs detects --[[User:Z3265772|z3265772]] 04:16, 23 September 2010 (UTC)<br /> <br /> hey jill,<br /> group 6 here, you may use our picture<br /> <br /> --[[User:Z3254433|z3254433]] 09:07, 26 September 2010 (UTC)<br /> <br /> ===to fix===<br /> <br /> '''Begin''' by collating the comments.<br /> * What are the common criticisms?<br /> * What were the best aspects identified within your project?<br /> * What errors, typos, missing references were identified?<br /> * Were there contributions from individual group members that were identified as good or poor parts of the overall project?<br /> <br /> '''Then''' work on the changes.<br /> * Develop priorities.<br /> * Divide the changes and corrections between group members.<br /> * Are there additional changes that should be made that were not identified by peer assessment.<br /> <br /> <br /> '''Jill:'''<br /> <br /> DONE abnormalities, maybe just adjust the cells of the table a little so the spacing appears more even as some cells have very little content while others are completely filled. What about the future of CVS? Is it a procedure that is going to continue as simply diagnostic? Is it being superseded by another procedure? comparative genomics, Improvements?<br /> <br /> DONE future role of CVS in prenatal diagnosis or even the role of invasive procedures altogether<br /> <br /> DONE move glossary above references so you dont have to scroll all the way down to read them<br /> <br /> DONE table comparing other techniques<br /> <br /> DONE got confused between the risks of this test and what it predicted (this will be clear in the above table)<br /> <br /> DONE -it didn't state that the test was invasive in intro (table)<br /> <br /> DONE -All spelling amd grammar - some more editing of spelling is required<br /> <br /> DONE &quot;abnormalities found by CVS&quot; section towards the top of the page coz I got confused between the risks of this test and what it predicted<br /> <br /> DONE -link or a reference to the brief time line where you state the names of the authors <br /> <br /> DONE -The only advice I can give is to maybe separate the difference between normal and abnormal chromosomes and the adjacent table to allow the table more room and be easily viewed <br /> <br /> DONE -I just wonder where the files came from – I saw you put up the copyright notices, but I couldn’t find the file sources <br /> <br /> DONE -a little more reference in the &quot;result and accuracy&quot; section since it includes some percentage other than that fantastic work <br /> <br /> DONE - it would be that you put the advantages/disadvantages of CVS over other techniques in a table.<br /> <br /> <br /> <br /> <br /> '''Jenny:'''<br /> <br /> flowchart or more pictures of procedure <br /> <br /> DONE clarify what hypertension is in the hypertensive disorders of pregnancy section<br /> <br /> outcomes + ethics,<br /> <br /> DONE Are the transabdominal and the transcervical pictures the student-drawn ones? put up in discussion that you drew them and you give permission for re-use - Jenny, ive done this for you, all you need to do is edit and add your student number, -Jill<br /> <br /> DONE elaborate on procedure eg what cells are being taken etc and stages of chorionic villus in embryology<br /> <br /> DONE Spelling and grammar, - Jenny, ive gone through the page and edited the spelling mistakes i could find, could you please do the same incase ive missed any? and double check the sections you are about to write? Thanks :) - Jill --[[User:Z3265772|z3265772]] 00:33, 24 September 2010 (UTC)<br /> <br /> The current research section could be put more into point form to make it more inviting to read - not sure if you want to do this, i think its ok as it is, maybe just delete this suggestion? or add pictures of people researching? haha<br /> <br /> <br /> ----<br /> <br /> ==Peer Review==<br /> <br /> '''Please note!''' when posting your peer review, we only have two group members. the other one dropped out. Thanks :)<br /> <br /> --[[User:Z3129413]] 16:29, 22 September 2010 (UTC)<br /> I love those old timey pencil medical pictures and so for me this was really great, what instantly nailed the whole positive immediate impression was 'Reasons for getting chorionic villus sampling etc etc' right there at the beginning. Why would I get one? thanks very much. Perhaps a darker font would make it even better. Historical back ground is really good and technique pictures are of high standard. The table presentation of abnormalities found and ratios is such an effective way of portraying this information.<br /> <br /> A few Q's with the hypertension cvs topic, <br /> Is there a normally expected percent of women in a large population to develop hypertensive disorders, just for perspective? CVS would not lower incidences of such surely (9098 pop, 2.7% to 7.1% control). 138 study size seems a bit low, is result really much more significant? However I did understand that CVS was more risk prone than amniocentesis for pre eclampsia and gestational hypertension.<br /> This project is well on track.<br /> <br /> <br /> <br /> <br /> Group 2: Your project is very impressive in content as well as organisation. The most notable thing for me was the wide use of pictures which must have taken a lot of time and effort to source. They definitely create an engaging page especially in conjunction with the use of tables and clear subheadings. The structure you have used is very effective as it allows your information to be scientific and thorough but at the same time it is concise and easy to navigate. I felt like i got an extensive overview of CVS after having read your page and the use of pictures and subheadings kept it from being a chore. I felt the history and abnormalities sections were particularly interesting. I also appreciate how you have seemed to approach this topic from all angles and not just a one-sided, all current and positive viewpoint. To improve your page perhaps you could explore the future role of CVS in prenatal diagnosis or even the role of invasive procedures altogether. Either way your page is probably up to standard as it is and it is obvious that you have worked hard at it. Job well done.<br /> --[[User:Z3293029|z3293029]] 14:38, 22 September 2010 (UTC)<br /> <br /> <br /> <br /> <br /> <br /> <br /> Group 2: fantastic use of images, it definitely worked to your advantage in engaging your audience's attention. Over all the language used is relatively easy to follow yet informative. As someone has already mentioned, some more editing of spelling is required. The amount of attention to detail is evident in the references which are from a range of sources so well done. I particularly liked that the page covered accuracy and limitations of the diagnostic procedure. Something that lacked clarity in a few other groups. Good use of the table covering the abnormalities, maybe just adjust the cells of the table a little so the spacing appears more even as some cells have very little content while others are completely filled. What about the future of CVS? Is it a procedure that is going to continue as simply diagnostic? Is it being superseded by another procedure? Improvements?<br /> Just an idea. Well done overall. --z3241780 13:40, 22 September 2010 (UTC) <br /> <br /> <br /> '''GROUP 2: Chorionic Villi Sampling''' <br /> <br /> This page caught my attention as soon as I saw it and that made me want to read on and thus learn about Chorionic Villi Sampling. A lot of research has gone into this assignment and it’s evident in the information presented as its precise which also helps capture the readers. The amount of research is also evident in the long list of references. The webpage is actually extremely informative covering pretty much every aspect of the pre-natal diagnostic techniques. Your webpage has the most pictures and this helps it stand out as one of the best project pages. I really, really like the formatting and the tables. The images break up the information so you’re never overloaded with the amount of text. The only bit of criticism is spelling but this is extremely minor as you’ll pick up on the spelling mistakes when you go over the page. The language in is the right mixture of scientific language meaning that even people without a scientific background can understand the CVS. Great job guys you really can’t tell that only two people are in this group. It’s extremely good!!! I also really like the first picture you have, gives a page a really good feel to it.<br /> <br /> --[[User:Z3252635|z3252635]] 13:20, 22 September 2010 (UTC)<br /> <br /> <br /> <br /> Hi guys!<br /> <br /> You have found so many great pictures! Your page looks amazing. I just wonder where the files came from – I saw you put up the copyright notices, but I couldn’t find the file sources. Your timeline was great too; I really like how you put up the concise timeline and then expanded a bit on the major developments afterwards. Are the transabdominal and the transcervical pictures the student-drawn ones? If so, well done! They’re really clear and beautifully done, but you should probably label them as student drawn and put in the copyright statement. If I could suggest something, it would be that you put the advantages/disadvantages of CVS over other techniques in a table. Otherwise, your page is really easy to read, and again has brilliant visuals – great job!--[[User:Z3252833|z3252833]] 12:42, 22 September 2010 (UTC)<br /> <br /> <br /> CVS.<br /> <br /> Group 2, your project is looking great, the first thing i noticed when reading it is that there is lots of detail which shows a great depth of research has gone into it, which is supported by your reference list. Another thing is the amount of pictures which support the information and break it up to make it easier to take in so much information at once. The disorders table provides great detail and makes it interesting with the pictures.<br /> <br /> What could be improved: You could put the advantages/disadvantages into a table form to make it even easier to understand. The reasons to use this technique could be slotted into the procedure section instead of the introduction maybe as it shows who is eligible for the procedure. The current research section could be put more into point form to make it more inviting to read. But overall really great project.<br /> <br /> --[[User:Z3292208|z3292208]] 08:55, 22 September 2010 (UTC)<br /> <br /> <br /> This project is extremely well done. It seems a great effort has gone into proper referencing which also gives the impression of a thoughtful attempt. The balance of information mediums is great and the logical flow of ideas when reading through each section is perfect.<br /> Suggestion: possibly more pictures or a flowchart of the procedure itself? <br /> <br /> Well done :)<br /> <br /> --[[User:Z3254753|z3254753]] 16:55, 21 September 2010 (UTC)<br /> <br /> Group 2- This project had tons of photos which is super great because its much easier to follow... Most of the point made is supported with pictures ..definetly provided me a better understanding of CVS ..I agree with what others have mentioned its very informative and especially with just 2 team members .. fantastic work <br /> <br /> what could be improved = a little more reference in the &quot;result and accuracy&quot; section since it includes some percentage other than that fantastic work ..--[[User:Z3305561|Navneet Ahuja]] 12:53, 21 September 2010 (UTC)<br /> <br /> Group project 2: chorionic villus sampling <br /> <br /> This group had great images and the page layout was good too especially the tables which simplified the information and made it easier to read. The information presented was very informative, scientific, and all the key concepts were covered on the topic. The project had a very impressive reference list, and it did help in my understanding of this prenatal diagnostic technique.<br /> <br /> What could be improved?<br /> I did find a spelling mistake under the heading Results and Accuracy were you have written “maybe” instead of “baby”, so maybe proof read the assignment to pick up on any other possible spelling or grammatical errors, other than that well done.<br /> <br /> --[[User:Z3254433|z3254433]] 07:15, 20 September 2010 (UTC)<br /> <br /> This project was highly informative about CVS. It contained a lot of information in which it shows that a lot of research has gone into it. Everything has been covered like, what the test predicts and what risks are associated with this test. It was very scientific, yet easy to understand at a non-scientific level. I liked the external links how it directed me straight to a page of different articles about CVS. <br /> <br /> What could be improved is maybe placing the &quot;abnormalities found by CVS&quot; section towards the top of the page, because i was a bit unsure on what this test predicted in the first place. I got confused between the risks of this test and what it predicted. But I managed to understand it all once all read through. Also, a definition of a &quot;cannula&quot; may be helpful in the glossary too, i wasn't sure what that exactly was.<br /> <br /> --[[User:Z3291079|z3291079]] 02:48, 21 September 2010 (UTC)<br /> <br /> This project provides a clear understanding of the key information regarding CVS, such as how it is carried out, the risks and benfits of CVS, what it is used for as well as future research. I have find the pictures to be of a great help in explaining the procedure of CVS.<br /> <br /> One think I did notice was that, it didn't state that the test was invasive until you figure it out when you look at the pictures in the procedures. I think stating that in the introduction would make it clearer for readers to follow on with the information this projects provides having that knowledge in mind at the start.<br /> <br /> --[[User:Z3216889|3216889]] 12:13, 22 September 2010 (UTC)<br /> <br /> <br /> This web page is definitely one of my favorites. The information that you have provided is exceptional; the reference list is indicative of your extensive research. The table of deformities was a stand out for me as it was very well set out and was a effective break from the text. You also used excellent external links that were very well placed within the web page. A slight improvement would be to include a link or a reference to the brief time line where you state the names of the authors, and as previously mentioned, reference the statistics that you have included. Other than that, I applaud you for a job well done!--[[User:Z3252083|z3252083]] 12:22, 22 September 2010 (UTC)<br /> <br /> --Group 2 Chronic villus sampling<br /> This webpage shows that the group was very thorough in the research due to the amount of detail that has gone into it and its many links. The layout is very well set out which helps someone understand it if he/she has no previous knowledge of the concept. The use of pictures and diagrams were done well as it broke the page up making it very easy to read and take in the information. The only advice I can give is to maybe separate the difference between normal and abnormal chromosomes and the adjacent table to allow the table more room and be easily viewed. That’s all guys and well done considering you only had 2 people working on it. <br /> <br /> --[[User:Z3290040|3290040]] 10:19, 22 September 2010 (UTC)<br /> <br /> <br /> ----<br /> <br /> <br /> ----<br /> <br /> ===group discussion===<br /> <br /> <br /> I agree the page feels more &quot;in order&quot; now. yeh... its tough trying to find more information. I guess i'll expand on maybe on some of the abnormalities? I was thinking we can get pictures of the several diseases but it will probably be a little difficult due to copyright? hmm if i get new ideas from now until tommorrow i'll definately add more stuff in --[[User:Z3224500|Jenny Huang]] 06:38, 15 September 2010 (UTC)<br /> <br /> <br /> <br /> Hey Jenny, i changed the order of the page around, i think it makes more sense now, before it didnt really flow from one section to the next, i think its a bit better, i tried to do it on this order, Intro, history, procedure, results, risks, advantages. that order seems to be how most wiki pages are set up, and how mark sets up his pages. what do you think? -Jill --[[User:Z3265772|z3265772]] 02:14, 15 September 2010 (UTC)<br /> <br /> <br /> i think i searched prenatal diagnosis in the search box on the left, and mark has made a prenatal diagnosis page. the prenatal diagnosis terms were on that. ive been looking at last years pages, and they have so much content, but there just isnt that much information on CVS. theres only so much you can write about it. i guess we need to start thinking outside the box and adding general prenatal stuff on here too. thats why i thought maybe another table with a timeline of other techniques on it. ? ill just do it and see how it looks... -Jill --[[User:Z3265772|z3265772]] 01:47, 15 September 2010 (UTC)<br /> <br /> <br /> hmm good idea.. btw what article did you find the terms for the prenatal diagnosis? should i incorporate that in the results section? --[[User:Z3224500|Jenny Huang]] 15:19, 14 September 2010 (UTC)<br /> <br /> <br /> maybe we could also do ethical issues? -Jill --[[User:Z3265772|z3265772]] 12:35, 14 September 2010 (UTC)<br /> <br /> Just an idea if we wanted to add more to the page, we could do another table, with the different diagnostic techniques used - eg ultrasound, AFP, amniocentesis and CVS etc and do a timeline with when each technique can be used, what it can test for, and how invasive it is. i know its not directly CVS, but it will give a good overview of the advantages and disadvantages etc. and im running out of ideas of what else we can have on here. can you think of anything else? -Jill --[[User:Z3265772|z3265772]] 12:30, 14 September 2010 (UTC)<br /> <br /> <br /> Found out its due thurs, Sorry!! im doing malformations now, but we definitely need to add more content, last years pages had over 600 revisions, we only have 200. So add whatever you think we could do to improve the page. Thanks for your help over the weekend, i did feel alone in creating the page! Looks great now though! Maybe we could look at last years pages and see what we like about them, and maybe get some ideas on how to add to our page. im trying to put alot of effort in as its worth 20% of our final mark :) ive also added to the malformations part, ill keep doing that. Thanks!! -Jill --[[User:Z3265772|z3265772]] 02:24, 13 September 2010 (UTC)<br /> <br /> <br /> <br /> Hey can't make it to lecture today.. but if its due for peer assesment today/this week, what suggestions do you think we can improve on? hmm also whos doing the part on malformations? --[[User:Z3224500|Jenny Huang]] 23:07, 12 September 2010 (UTC)<br /> <br /> <br /> yeah good question.. ill see if i can find something more recent and let you know. i guess it would be. also, hope you dont mind, i put some of your references in, and added some pictures :) -Jill --[[User:Z3265772|z3265772]] 13:00, 12 September 2010 (UTC)<br /> <br /> <br /> Hey for the section on malformations in current research, would it be limb defects? the articles I found were mostly from the 1990s so I'm not sure if I should use..--[[User:Z3224500|Jenny Huang]] 12:49, 12 September 2010 (UTC)<br /> <br /> <br /> Yay it looks neat!!!glad you figured out how to fix the formatting.. It was rather confusing before haha. SOrry if it seems like you are doing most of the work :( I'll add to the current research to lighten off your load.i'll be working on it most of the weekend--[[User:Z3224500|Jenny Huang]] 16:39, 10 September 2010 (UTC)<br /> <br /> <br /> I made a table!! it took AGES but it looks good :) we probably need to spread everything out a bit, it looks a bit crowded, but getting there! i separated the risks from current research :)- Jill --[[User:Z3265772|z3265772]] 12:03, 10 September 2010 (UTC)<br /> <br /> <br /> <br /> Hmm it didn't take that long.. btw I've already done it but I haven't uploaded it yet but I'll do so now... hmm by the way should the heading &quot;risks&quot; be separate from the &quot;current assosciated research&quot; heading?--[[User:Z3224500|Jenny Huang]] 02:53, 10 September 2010 (UTC)<br /> <br /> Hey! Did it take long to do the drawing for the transabdominal technique? i was thinking we could do a second one the same for transcervical. what do you think? - Jill --[[User:Z3265772|z3265772]] 02:09, 10 September 2010 (UTC)<br /> <br /> <br /> <br /> Im pretty sure its due monday for peer assessment, thats what it says in the course guide. did he say it was due thurs in the lab last week? hope its due thurs! that would be awesome! - Jill --[[User:Z3265772|z3265772]] 12:00, 9 September 2010 (UTC)<br /> <br /> <br /> <br /> <br /> Hey Jill, wow only 4 days! I was mistaken that it was due next thursday. But don't wrry, I'll have the whole weekend to finish up ;)--[[User:Z3224500|Jenny Huang]] 08:30, 9 September 2010 (UTC)<br /> <br /> <br /> <br /> <br /> Hi! Ive used a reference that is not from pub med, so you can copy that to use references that arent in pub med. :) only 4 days till its due! - Jill --[[User:Z3265772|z3265772]] 01:29, 9 September 2010 (UTC)<br /> <br /> <br /> <br /> <br /> some pictures we can use, this first one is Primary chorionic villi, the second picture is secondary chorionic villi, these may be helpful when describing the technique -Jill --[[User:Z3265772|z3265772]] 09:52, 7 September 2010 (UTC)<br /> <br /> <br /> [[File:Gray36.png|left|400 px]]<br /> <br /> <br /> [[File:Gray37.png|left|400 px]]<br /> <br /> <br /> <br /> <br /> <br /> <br /> Hmm so basically we do the peer review the week after mid sem break until the 23rd of september, and we paste both the review on the groups page and on your own page... also apparently the other student discontinued the course so its just us doing the project now =S --[[User:Z3224500|Jenny Huang]] 03:02, 2 September 2010 (UTC)<br /> <br /> <br /> <br /> Yay!! looks awesome!! Sorry i couldnt be there today, could you let me know what Mark says? thanks :) - Jill --[[User:Z3265772|z3265772]] 23:59, 1 September 2010 (UTC)<br /> <br /> <br /> <br /> I've uploaded the first pic... I hope it's ok and if I did the layers wrongly please tell me so I can edit... also how do you do referencing that is not from pubmed journals?--[[User:Z3224500|Jenny]] 23:18, 1 September 2010 (UTC)<br /> <br /> <br /> <br /> Hi Jenny, are you doing the drawn figure still? would you possibly be able to upload it before thursday? i have updated references for my section :) - Jill --[[User:Z3265772|z3265772]] 08:52, 1 September 2010 (UTC)<br /> <br /> <br /> <br /> --[[User:S8600021|Mark Hill]] 00:49, 31 August 2010 (UTC) I have emailed your missing team member , but have not had a response yet. Your should continue to work on the project together as best you can. It seems to be progressing, though I did ask you to update your reference format and I do not see a student drawn figure. You need to have this updated before this weeks lab when I will be reviewing all projects.<br /> <br /> <br /> <br /> <br /> <br /> Hi Jill, I'm working on it :) by the way have you heard from the other team member? Oh and I'll be drawing pictures for both the transcervical and transabdominal techniques..--[[User:Z3224500|Jenny Huang]] 07:46, 30 August 2010 (UTC)<br /> <br /> <br /> <br /> Hi guys, only two weeks to go, we really need to do some more work, the editing at the end will be the hardest, so the sooner we finish, the easier it will be. - Jill--[[User:Z3265772|z3265772]] 23:46, 29 August 2010 (UTC)<br /> <br /> <br /> <br /> Can we incorporate some sort of timeline? what do you think? maybe we can do a timeline of embryo development and note the time that CVS is done - Jill --[[User:Z3265772|z3265772]] 00:57, 26 August 2010 (UTC)<br /> <br /> <br /> <br /> Mark has kindly shown us how to reference, ill try to sort that out tonight or tomorrow - Jill --[[User:Z3265772|z3265772]] 23:16, 25 August 2010 (UTC)<br /> <br /> <br /> <br /> Ive just discovered, you can use almost any picture on wiki, the copyrights have usually expired, which is why wiki can use them, just search CVS on wiki and if there is a picture you like, check the copyright and copy away!! :D -Jill --[[User:Z3265772|z3265772]] 01:05, 25 August 2010 (UTC)<br /> <br /> <br /> <br /> Hi guys, please feel free to edit any work i have done, or add to it, or even suggest to me on this page what to add. what i have put up so far really is a rough draft and will be trying to add to it later anyway :) -Jill --[[User:Z3265772|z3265772]] 00:50, 25 August 2010 (UTC)<br /> <br /> <br /> <br /> {{Template:Projects10MHtalk}}<br /> <br /> <br /> <br /> Hi guys, we need to get on top of this, its due for peer assessment in 3 weeks! Im going to do related research. does anyone want to do the drawing? ill also try and get some more references and photos up, as Mark has suggested. If you want a picture, just email the website with the picture on it, thats what ive been doing, they are usually pretty good about it. let me know of any other ideas you guys might have - Jill --[[User:Z3265772|z3265772]] 09:50, 23 August 2010 (UTC)<br /> <br /> <br /> <br /> --[[User:S8600021|Mark Hill]] 04:35, 23 August 2010 (UTC) OK there are a few references here, but you will need more than these few and there should be some related images.<br /> <br /> <br /> <br /> Link for group assessment criteria: [[2010_Lab_1#Group_Assessment_Criteria|group assessment criteria]] - Jill--[[User:Z3265772|z3265772]] 00:50, 25 August 2010 (UTC)<br /> <br /> <br /> <br /> For current associated research:<br /> <br /> <br /> http://onlinelibrary.wiley.com/doi/10.1002/pd.2410/abstract<br /> <br /> http://www.ncbi.nlm.nih.gov/pubmed/11263542<br /> <br /> http://www.ncbi.nlm.nih.gov/pubmed/19683693<br /> <br /> http://www.sciencedirect.com/science?_ob=ArticleURL&amp;_udi=B6T7V-4BWVXPY-F9&amp;_user=10&amp;_coverDate=03%2F31%2F1994&amp;_rdoc=1&amp;_fmt=high&amp;_orig=search&amp;_sort=d&amp;_docanchor=&amp;view=c&amp;_searchStrId=1427646674&amp;_rerunOrigin=google&amp;_acct=C000050221&amp;_version=1&amp;_urlVersion=0&amp;_userid=10&amp;md5=a3c3f2d47ad01c562a3baea8c60a48bc<br /> <br /> http://www.informaworld.com/smpp/content~db=all~content=a913951525<br /> <br /> http://www.escardiocontent.org/periodicals/ejcpr/article/S0002-9378%2807%2900305-5/abstract<br /> <br /> http://humrep.oxfordjournals.org/cgi/content/abstract/3/6/811<br /> <br /> - Jill--[[User:Z3265772|z3265772]] 00:50, 25 August 2010 (UTC)<br /> <br /> Hi guys, i put up the link for Search Pubmed for our topic, did we want to assign ourselves a role to do or just see how the page goes? i thought maybe we could find a page that we like and follow a similar format, that way we know what our page will look like and can follow a layout as we go. -Jill --[[User:Z3265772|z3265772]] 01:12, 9 August 2010 (UTC)<br /> <br /> <br /> also, see this web page http://www.cdc.gov/mmwr/preview/mmwrhtml/00038393.htm Jill --[[User:Z3265772|z3265772]] 11:16, 9 August 2010 (UTC)<br /> <br /> <br /> project outline: <br /> <br /> 1. Intro<br /> <br /> 2. historic background<br /> <br /> 3. current associated research<br /> <br /> 4. simplified description of technique<br /> <br /> http://journals.lww.com/co-obgyn/Abstract/2010/04000/Chorionic_villus_sampling__technique_and_training.11.aspx<br /> <br /> 5. student drawn figure or animation<br /> <br /> 6. reference list<br /> <br /> 7. glossary<br /> <br /> 8. external links<br /> <br /> -Jill --[[User:Z3265772|z3265772]] 03:05, 11 August 2010 (UTC)<br /> <br /> <br /> Can anyone tell me how to paste a picture from an outside source? i cant seem to figure it out. thanks :) <br /> -Jill --[[User:Z3265772|z3265772]] 05:03, 11 August 2010 (UTC)<br /> <br /> dont worry, i figured it out :)<br /> <br /> <br /> i think we should put the references list on this page to begin with to make sure we dont double up <br /> - Jill --[[User:Z3265772|z3265772]] 05:31, 11 August 2010 (UTC)<br /> <br /> Hey guys sorry for the delay in replies. I see you have made a contribution to the topic already :) By the way, where did you find the project outline criteria? Oh and if you don't mind I can do research on the description of technique and current research. Feel free to contribute :) oh and any ideas on how to work on the drawings? --[[User:Z3224500|Jenny Huang]] 15:29, 11 August 2010 (UTC)<br /> <br /> <br /> Hello guys,<br /> <br /> So I found some journal articles that is of interest especially this one: http://apps.who.int/rhl/reviews/langs/CD003252.pdf which is long and has extensive information on the topic..<br /> So I'll be editing my section in word and will be posting some info on technique in the future.<br /> <br /> Btw here are some other articles that are of interest that can be accessed through unsw sirius:<br /> <br /> <br /> <br /> http://linkinghub.elsevier.com/retrieve/pii/S0889854505702916<br /> <br /> http://journals.lww.com/co-obgyn/Abstract/2010/04000/Chorionic_villus_sampling__technique_and_training.11.aspx<br /> <br /> http://journals.lww.com/co-obgyn/Abstract/2005/04000/Chorionic_villus_sampling_and_amniocentesis.16.aspx<br /> <br /> Complications:<br /> <br /> http://journals.lww.com/greenjournal/Abstract/2007/09000/Procedure_Related_Complications_of_Amniocentesis.24.aspx<br /> <br /> http://journals.lww.com/greenjournal/Abstract/2008/10000/Evaluating_the_Rate_and_Risk_Factors_for_Fetal.12.aspx<br /> <br /> I'll be adding more once I find some that are useful..<br /> <br /> <br /> Oh and about the topic headings are we just going to use the ones in the assesment criteria?<br /> <br /> <br /> --[[User:Z3224500|z3224500]] 15:03, 24 August 2010 (UTC)<br /> <br /> <br /> Hey Jenny!! i think its a great idea to use more headings, add as many as you like/can think of, i just cant think of any more. i think the assessment criteria is just the bare minimum we have to do, so please add more! Also, can we add the new discussion posts to the top of the page? so we dont have to scroll to the bottom every time? what do you think? (it says up the top of this page to add newer material at the top, just wondering what you thought). i really like the articles you have found too :) see you tomorrow <br /> - Jill --[[User:Z3265772|z3265772]] 00:29, 25 August 2010 (UTC)</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=2010_Group_Project_2&diff=39581 2010-10-06T04:04:21Z

<p>Z3265772: /* Future of Chorionic Villus Sampling and Prenatal diagnosis techniques */</p> <hr /> <div>[[File:Embryo_11-14_weeks.jpg|right|400 px]]<br /> <br /> ='''Chorionic Villus Sampling (CVS)'''=<br /> <br /> =Introduction=<br /> <br /> [[Image:Gray31.png|thumb|350px|right|Grays]]<br /> <br /> <br /> Chorionic villus sampling or CVS is a type of prenatal diagnosis test performed in the first trimester to detect major fetal abnormalities such as down syndrome, cystic fibrosis and tay-sachs disease, among many others. In the procedure, tissue is withdrawn from small finger like projections on the placenta called chorionic villi and tested for chromosomal defects. It is commonly performed between 10 and 12 weeks of pregnancy. <br /> The advantage of CVS over other procedures is that the result is available approx 6 weeks earlier in the pregnancy, so if a termination is needed, it can be done earlier which is much safer, rather than later in the pregnancy, which can carry more risks. &lt;ref&gt;Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., de, l.C., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Lubs, H.A., Mahoney, M.J., Pergament, E., Simpson, J.L., Carpenter, R.J., Elias, S., Ginsberg, N.A., Goldberg, J.D., Hobbins, J.C., Lynch, L., Shiono, P.H., Wapner, R.J. &amp; Zachary, J.M. 1989, &quot;The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities&quot;, New England Journal of Medicine, vol. 320, no. 10, pp. 609-617.&lt;/ref&gt;<br /> <br /> ''Reasons for getting chorionic villus sampling can include:''<br /> <br /> -History of genetic disorders in the family<br /> <br /> -Parents have already had a child with a disorder such as down syndrome or cystic fibrosis<br /> <br /> -Abnormal ultrasound result<br /> <br /> -Maternal age of 35 or older, which increases the risk of chromosomal defects such as down syndrome<br /> <br /> <br /> =Historic background=<br /> <br /> <br /> '''Brief timeline of CVS use'''<br /> <br /> *1968 - Mohr in Scandinavia introduced the concept of prenatal diagnosis using chorionic villi sampling &lt;ref&gt;&lt;pubmed&gt;5691288&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1973 - Kullander and Sandahl and Hahnemann in 1974 showed further study into chromosomal analysis from CVS &lt;ref&gt;&lt;pubmed&gt;4766093&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1975 - from the Department of Obstetrics and Gynaecology at the Tietung Hospital in Anshan, China was successful in using CVS to determine sex of fetuses for sex pre selection. &lt;ref&gt;&lt;pubmed&gt;811431&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1980 - Kazy et al. were the first to use ultrasound guidance during chorionic villi sampling. &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1981 - Niazi et al. improved methods for culturing of fibroblasts from trophoblast villi. &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1983 - Ward performed transcervical CVS with 67% success rate. In the same year, the Brombati group demonstrated and 96% success rate with obtaining villi with the aid of ultrasound guidance &lt;ref&gt;&lt;pubmed&gt;6463023&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1984 - Smidt-Jensen and Hahnemann introduced transabdominal CVS under ultrasound guidance &lt;ref&gt;&lt;pubmed&gt;4088973&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1986 - The Golbus group had a 3.8% miscarriage rate, and subsequently many other clinics started reporting a much lower rate of miscarriage at 1.7% making the procedure safe for routine use &lt;ref&gt;&lt;pubmed&gt;3717235&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> ===Jan Mohr (1921-2009)===<br /> [[Image:Jan_Mohr.jpg|thumb|200px|left|Jan Mohr]]<br /> <br /> <br /> '''1968 -- Concept of CVS introduced'''<br /> <br /> In 1968 Jan Mohr introduced the concept of prenatal diagnosis using the CVS technique. &lt;ref&gt;&lt;pubmed&gt;5691288&lt;/pubmed&gt;&lt;/ref&gt; He used the transcervical method to get a biopsy of the chorion using an endoscope as the source of vision. The current technique differs by using mostly transabdominal access with ultrasound instead of an endoscope. He reported a 96% success rate in obtaining chorionic material but with a high incidence of bleeding and infection. The approach was abandoned as amniocentesis became more popular due to higher safety levels<br /> <br /> <br /> <br /> '''1973-1975 -- Further study into chromosomal analysis from CVS'''<br /> <br /> Kullander and Sandahl in 1973 and Hahnemann in 1974 further researched fetal chromosome analysis using transcervical biopsy before termination in early pregnancies. &lt;ref&gt;&lt;pubmed&gt;4766093&lt;/pubmed&gt;&lt;/ref&gt; In 1975 the first successful diagnostic use of chorionic villi was reported at the Tietung Hospital in China. &lt;ref&gt;&lt;pubmed&gt;811431&lt;/pubmed&gt;&lt;/ref&gt; This is where fetal sex was diagnosed for the purpose of sex pre-selection. They claimed to have 94% diagnosis success and only 4% miscarriage rate. Researchers in the United States were, however unable to duplicate the results and so the idea of CVS diagnosis was again abandoned for some time.<br /> <br /> <br /> '''1980-1983 -- Change from endoscopic examination to ultrasound to guide CVS'''<br /> <br /> With the invention of the ultrasound and advancement in molecular genetics, an earlier prenatal diagnosis was now sought after. So Kazy et al. in 1980, began using both the endoscope and the ultrasound for fetal sexing on chorion biopsies. This was the first report of using ultrasound guidance during chorion sampling. After Kazy et.al. began using the ultrasound for guidance, many others followed. Niazi et al., Ward and the Brombati group all started using ultrasound guided CVS. Techniques quickly improved and success rate of obtaining chorionic material rose from 75% to 96% &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> '''1984-1986 -- The introduction of transabdominal CVS'''<br /> <br /> In 1984, Smidt-Jensen and Hahnemann in Copenhagen introduced transabdominal CVS using ultrasound guidance. &lt;ref&gt;&lt;pubmed&gt;6463023&lt;/pubmed&gt;&lt;/ref&gt; With less chance of infective complications the procedure has become more popular than the transcervical method in many prenatal diagnostic centers. Other ultrasonic techniques and modifications were explored by the Brambati and Simoni group and the Golbus group in 1985. &lt;ref&gt;&lt;pubmed&gt;4088973&lt;/pubmed&gt;&lt;/ref&gt; The Golbus group reported in 1986 a miscarriage rate of 3.8%. &lt;ref&gt;&lt;pubmed&gt;3717235&lt;/pubmed&gt;&lt;/ref&gt; Subsequently, many other centres reported a much lower miscarriage rate of 1.5% which made the procedure safe for routine use.<br /> <br /> ==Table Comparing Prenatal Diagnosis Techniques==<br /> <br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ This table shows invasiveness and timeframe for some prenatal diagnostic techniques<br /> ! Invasiveness !! Diagnostic technique !! Comments !! Time that procedure can be performed !! Diagram<br /> |-<br /> |Non Invasive<br /> |[[2010_Group_Project_1|Ultrasound]]<br /> |'''Tests for:''' neural tube defects, chromosomal abnormalities and congenital heart abnormalities<br /> <br /> '''Risks:''' No risks currently indicated for ultrasound use in prenatal diagnosis. <br /> <br /> This test uses high frequency sound waves through a transmitting device, which construct a picture of the fetus when the waves are reflected and received back by the transmitter. Due to no known risks, ultrasound use is used routinely in pregnancies and is the first port of call for prenatal diagnosis. If a potential abnormality is found or the parents are high risk, then a more invasive diagnostic technique may be recommended. The type of diagnostic technique used depends on the potential abnormality found. &lt;ref&gt;Kremkali, F.W. (2006) Diagnostic Ultrasound Principles and Instruments (7th ed.) St Louis: Saunders Elsevier. pp3-5&lt;/ref&gt;[[2010_Group_Project_1|More about Ultrasound]]<br /> |Weeks 18-20<br /> |[[File:ZConvex_Array_Transducer.jpg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> |'''Tests for:''' chromosomal abnormalities and genetic abnormalities <br /> <br /> '''Risks:''' Miscarriage (1%), some of the side effects include dizziness, abdominal discomfort, cramping, haemorrhage, infection, ruptured amniotic sac, increased risk of limb defects if the test was performed at nine weeks’ gestation or earlier &lt;ref&gt;Alfirevic, Z., K. Sundberg, et al. 2008. &quot;Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review).&quot; Cochrane Database of Systematic Reviews 4: 1-134.&lt;/ref&gt;<br /> <br /> With the guidance of Ultrasound, a needle is inserted in to the abdomen or through the cervix and a small sample of chorionic villi from the placenta are obtained. This sample is sent to a cytogenetics laboratory where the cells are cultured and stained, and photographed to view chromosomes <br /> |Weeks 10-12<br /> |[[File:Transabdominal_CVS.jpg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_3|Amniocentesis ]] <br /> |'''Tests for:''' chromosomal abnormalities, fetal infections, and genetic abnormalities<br /> <br /> '''Risks:''' Miscarriage &lt;1%, stillbirths 3%, and small risk of infection. &lt;ref&gt;&lt;pubmed&gt;PMC2464303&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> A needle is inserted in to the uterus where a sample of the amniotic fluid surrounding the fetus is taken. This procedure is usually done with the guidance of ultrasound so the physician can see where the needle is being inserted. The amniotic fluid is analysed for abnormalities. [[2010_Group_Project_3|More about Amniocentesis ]]<br /> |Weeks 15-16<br /> |[[File:Process_of_amniocentesis.jpeg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_4|Percutaneous Umbilical Cord Blood Sampling]]<br /> |'''Tests for:'''chromosomal abnormalities, blood disorders, some metabolic disorders, fetal infections, and some causes of structural problems.<br /> <br /> '''Risks:'''Miscarriage &lt;2%, Preterm labour, fetal bradycardia, bleeding of the umbilical cord. &lt;ref&gt;&lt;pubmed&gt;16530195&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> A small needle is inserted in to the abdomen of the mother and a sample of blood is taken from the umbilical vein in the umbilical cord. This technique is often used when other diagnostic techniques are inconclusive, but should be used with caution as carries higher risk rates. The benefit of Percutaneous Umbilical Cord Blood Sampling is that the results are available much faster, within 72 hours of testing. CVS and amniocentesis tests need culturing and therefore take up to 11 days for a result. [[2010_Group_Project_4|More about Percutaneous Umbilical Cord Blood Sampling]]<br /> |Weeks 18-22<br /> |[[File:Placenta_Anterior.jpg|right|150 px]]<br /> |-<br /> |Less Invasive<br /> |[[2010_Group_Project_5|Fetal Fibronectin]]<br /> |'''Tests for:'''determines the likelihood of premature birth in women of high risk<br /> <br /> '''Risks:'''No known risks for the testing of Fetal Fibronectin, as is it less invasive than other techniques.<br /> <br /> Fetal Fibronectin is only found in the uterus until the onset of labour when is secretes in through the cervix. In this procedure, a sample of the cervico-vaginal secretions are taken and sent to the lab for testing. If the test comes out positive for Fetal Fibronectin in the vagina, the mother has a chance of going into premature labour. [[2010_Group_Project_5|More about Fetal Fibronectin]]<br /> |Weeks 24-34<br /> |[[File:FetalFN.jpg|right|150 px]]<br /> |-<br /> |Non Invasive<br /> |[[2010_Group_Project_6|Maternal serum alpha-fetoprotein]]<br /> |'''Tests for:'''AFP is a type of screening test and do not diagnose problems, but signal whether further testing is needed. Normal AFP levels are increased in Neural Tube Defects and Omphalocoele &amp; decreased in Down Syndrome.<br /> <br /> '''Risks:'''No known risks as Maternal serum alpha-fetoprotein is non invasive<br /> <br /> A blood sample is taken from the mother and alpha-fetoprotein levels are measured in the lab. These measurements can determine the risk level of certain abnormalities in the fetus. The advantage is that it is non invasive, but the disadvantage is that it has a very high false positive rate, so many mothers have gone on to have amniocentesis or chorionic villus sampling to find nothing is wrong with the baby. This can be overcome by having another alpha-fetoprotein test before getting amniocentesis or chorionic villus sampling. [[2010_Group_Project_6|More about Maternal serum alpha-fetoprotein]]<br /> |Weeks 15-20<br /> |[[File:Enzyme_immunoassay.jpg|right|150 px]]<br /> |-<br /> |}<br /> <br /> =Description of technique=<br /> [[File:Gray37.png|right|thumb|280px|Sample is taken from the chorionic villi]]<br /> [[File:transabdominal_CVS.jpg|right|thumb|280px|Transabdominal Technique]]<br /> [[File:transcervicalCVS.jpg|right|thumb|280px|Transcervical Technique]]<br /> <br /> The CVS procedure involves taking a sample of the chorion frondosum — the part of the chorionic membrane containing the villi. Between 10-12 weeks of pregnancy, the developing gestational sac is composed of a thick, outer chorionic membrane surrounding the amniotic cavity, a thin amniotic membrane and the chorionic cavity. The chorionic villi have now degenerated over most of the outer membrane, forming the chorion laeve, and the remaining villi fuses and embeds loosely into the decidua basalis. This forms the chorion frondosum, which will ultimately become the placenta. At this stage, the villi float freely in the blood of the intervillus space. Each villi is branched, and is composed of an outer syncytiotrophoblast and an inner cytotrophoblast layer. Within the centre of each villus is a mesenchymal core which contain capillaries carrying fetal blood. In CVS, usually samples of both cells lines (cytotrophoblasts and mesenchymal cells) are obtained. Chromosomal analysis of these cell lines can be performed by means of direct preparations, short-term cultures (cytotrophoblasts), or long-term cultures (mesenchymal cells) of the chorionic villi.&lt;ref&gt;Jenkins, T.M, Wapner, R.J, 1999. First trimester prenatal diagnosis: Chorionic villus sampling. Seminars in Perinatology. pp403-413.&lt;/ref&gt; <br /> <br /> CVS can be performed in two ways, through the cervix (transcervical) or through the abdomen (transabdominal). Both techniques are equally safe when performed by an experienced technician, however miscarriage rates are somewhat higher when done through the cervix. Prior to the procedure, an abdominal ultrasound can be performed to locate the position of the uterus, and the placenta. A full bladder is not required. Depending on the type of method performed, the vulva, vagina, cervix or abdomen are cleaned with antiseptic. The procedure normally takes only 1-2 minutes to perform and the patient is able to leave the clinic within the hour after the fetus is checked.&lt;ref&gt;Melbourne Ultrasound for Women. Chorionic Villus Sampling. Accessed 5 September 2010. http://www.nevdgp.org.au/info/melb_us/cvs_melb.htm&lt;/ref&gt; <br /> <br /> ===Transabdominal Procedure===<br /> <br /> # A local anaesthetic is first applied to the abdomen.&lt;br&gt;<br /> # A thin hollow needle is then inserted through the abdomen into the uterus and into the edge of the placenta where the chorion is located. An ultrasound transducer is commonly used to guide the needle during the procedure. &lt;br&gt;<br /> # A finer syringe needle is then passed through the outer needle, and the tissue is then drawn.&lt;br&gt;<br /> # The sample is taken to the laboratory for testing. <br /> <br /> ===Transcervical Procedure===<br /> # A speculum is inserted in the vagina and the area is cleaned with antiseptic.&lt;br&gt;<br /> # With the help of ultrasound imaging, a thin cannula is then inserted through the cervix and uterus and into the placenta.&lt;br&gt;<br /> #The tissue sample is then taken up through the cannula.&lt;br&gt;<br /> &lt;ref&gt;&lt;pubmed&gt;20154617&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> After the sample is taken to the laboratory, the cells are grown until there are enough cells for chromosome testing. The results normally take up to 2 weeks to complete.<br /> <br /> ===Complications===<br /> <br /> Some of the side effects and complications after a CVS procedure can include:<br /> <br /> * Dizziness <br /> * Abdominal discomfort<br /> * Cramping<br /> * Haemorrhage<br /> * Infection<br /> * Ruptured amniotic sac<br /> * Increased risk of limb defects if the test was performed at nine weeks’ gestation or earlier<br /> * Premature delivery<br /> &lt;ref&gt;Alfirevic, Z., K. Sundberg, et al. 2008. &quot;Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review).&quot; Cochrane Database of Systematic Reviews 4: 1-134.&lt;/ref&gt;<br /> <br /> Additional complications can involve technical errors such as failure of the specimen to grow sufficiently in the laboratory and uncertain laboratory results. If this occurs, amniocentesis is still an option after 15 weeks.<br /> <br /> ===Results and Accuracy===<br /> <br /> The accuracy of CVS to detect chromosome abnormalities is quite high, at around 98-99% &lt;ref&gt;Hall, Judith G. &quot;Chromosomal Clinical Abnormalities.&quot; In Nelson Textbook of Pediatrics. Edited by Richard E. Behrman et al. Philadelphia: Saunders, 2004.&lt;/ref&gt;. Although it has a high accuracy rate to diagnose most major chromosomal problems, CVS does have some limitations. Having a negative result for an abnormality does not rule out ALL genetic defects the baby may have. Comparatively to amniocentesis, CVS does NOT detect neural tube defects such as spina bifida, or anencephaly. <br /> The type of chromosome abnormalities detected by CVS will be further discussed in detail below.<br /> <br /> ===Limitations===<br /> [[file:Double_tetrasomy_18_mosaicism.jpg‎|thumb|250 px|Example of a child with double tetrasomy 18+ mosaicism.]]<br /> <br /> '''Maternal contamination'''<br /> <br /> Since the villus sample also involves maternal cells, there is a possibility that they may take over the laboratory culture instead, consequently leading to the mother's cells being tested instead of the fetus's cells. The risk of this happening is low however and is decreased when the sample contains an adequate amount of fetal cells.<br /> <br /> <br /> '''Mosaicism'''<br /> <br /> &quot;Mosaicism&quot; occurs when both abnormal and normal cells are found in the chorionic villi. Mosaicism can involve both the fetus (true fetal mosaicism) and the placental tissues or the placental tissues alone. When this happens, cells that multiply from these abnormal cells may develop a chromosome anomaly.<br /> What can result is that in certain body organs the fetus has a combination of cells that are abnormal and normal in genetic structure. <br /> The rate of the placental type occuring is found in 1-2% of pregnancies detected by CVS.&lt;ref&gt;&lt;pubmed&gt;9316125&lt;/pubmed&gt;&lt;/ref&gt; When mosaicism is detected by CVS, the limitation lies in the inability to conclude that the baby itself and not just the placental tissues will share the mosaicism. Even if the baby is affected, it will be unclear as to what percentage of the fetal cells and the type of organs that will be affected.&lt;ref&gt;Trofatter. K.F. 2008. Chromosomal Mosaicism Detected at the Time of Chorionic Villus Sampling. Accessed on 15 September 2010. http://www.healthline.com/blogs/pregnancy_childbirth/2008/03/chromosomal-mosaicism-detected-at-time.html&lt;/ref&gt;<br /> <br /> =Risks=<br /> <br /> <br /> When Chorionic Villus Sampling is performed, a small sample of the placenta is removed for analysis. The placenta contains fetal material, therefore can reveal genetic defects which may lead to problems or abnormalities. &lt;ref&gt;&lt;pubmed&gt;20664398&lt;/pubmed&gt;&lt;/ref&gt; This prenatal test can be performed as early as 11 weeks into the pregnancy, this is earlier than many prenatal diagnosis tests, which is why many parents choose CVS as they can have solid information earlier in the pregnancy. Some common risks which are not under current research include: Cramping, light blood spotting, pain, fever and chills, leakage (which can be a major concern as it can lower amniotic fluid to a dangerous level for the infant), and potential for missing fingers and toes in the newborn. For this reason, the procedure is only recommended for women who are at least 11 weeks pregnant. &lt;ref&gt;&lt;pubmed&gt;20051662&lt;/pubmed&gt;&lt;/ref&gt; The other major risks that are currently being researched are outlined below<br /> <br /> ====Transabdominal vs Transcervical CVS. Comparison of risks====<br /> <br /> <br /> [[File:CVS_Table.jpg|left|thumb|280px|Transabdominal vs Transcervical risks]]<br /> <br /> This table shows the symptoms of women approximately 3 days after sampling. The table shows women who had undergone transcervical sampling had higher frequencies of fluid leakage, vaginal spotting, and bleeding. When a tenaculum is not used, the frequency of vaginal spotting and bleeding persisted in the transcervical-sampling group. Only two women, both in the transcervical-sampling group, had a temperature above 38°C. &lt;ref&gt;Jackson, L.G., Zachary, J.M., Fowler, S.E., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Mahoney, M.J., Pergament, E., Simpson, J.L., Black, S. &amp; Wapner, R.J. 1992, &quot;A Randomized Comparison of Transcervical and Transabdominal Chorionic-Villus Sampling&quot;, New England Journal of Medicine, vol. 327, no. 9, pp. 594-598.&lt;/ref&gt;<br /> <br /> <br /> ====Miscarriage====<br /> <br /> One of the biggest risks of Chorionic Villus Sampling is miscarriage. In one to 100 or 200 cases, the procedure is linked with miscarriage. &lt;ref&gt;&lt;pubmed&gt;19155918&lt;/pubmed&gt;&lt;/ref&gt; In an experienced clinic, this rate may go down to one in 300 to 400. To lower the risk of miscarriage with Chorionic Villus Sampling, it is recommended the procedure be performed by an experienced clinician<br /> <br /> <br /> ====Oligohydramnios====<br /> <br /> Oligohydramnios is a condition due to low amniotic fluid level, which is caused by amniotic fluid leakage. Amniotic fluid leakage is typically caused by fetal urinary tract abnormalities such as Potter's syndrome, polycystic kidneys, or genitourinary obstruction. But leakage can sometimes be caused by sampling of the chorionic villi due to insertion of the needle. If the resulting oligohydramnios is not treated and the amniotic fluid continues to leak it can result in the baby developing hypoplastic lungs (underdeveloped lungs). &lt;ref&gt;&lt;pubmed&gt;17694578&lt;/pubmed&gt;&lt;/ref&gt;&lt;br&gt;&lt;br&gt;<br /> <br /> <br /> '''Why would you use CVS over other techniques?'''<br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ Advantages and Disadvantages of Chorionic Villus Sampling<br /> ! Advantages !! Disadvantages <br /> |-<br /> |Can be performed earlier in pregnancy than amniocentesis (at around ten weeks).<br /> <br /> Results are available faster<br /> <br /> Cells obtained are mitotically active<br /> <br /> Amount of tissue obtained is preferable for DNA analysis.<br /> <br /> It is almost 100% reliable in detecting chromosomal and genetic defects.<br /> |It carries a slightly higher risk of miscarriage (1%-2%) than does amniocentesis<br /> <br /> It's less commonly available than amniocentesis, and fewer doctors are experienced in the procedure.<br /> <br /> It entails a greater risk of distorted results than does amniocentesis due to presence of mother's cells in the sample and discrepancies between chorionic villi and fetal genes.<br /> <br /> Metabolic disorders are difficult to diagnose and must be confirmed with amniocentesis.<br /> <br /> Because of the early gestational age at which the test is performed, fetal anatomy cannot be seen as well as it can at the time amniocentesis is performed.<br /> |-<br /> |}<br /> &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt;<br /> <br /> =Abnormalities found by CVS prenatal diagnostic technique=<br /> <br /> [[File:Down-normal.gif|right|thumb|280px|Normal]]<br /> <br /> [[File:Down-extra.gif|right|thumb|280px|third copy of chromosome 21]]<br /> <br /> The cells collected by CVS are sent to a cytogenetics laboratory. There the cells are cultured (stimulated to grow and divide) for 10-14 days. After enough cells are obtained, a banded karyotype is performed. This means that the fetal chromosomes in the cultured cells are stained and subsequently photographed. The photographed chromosomes are then ordered by number, counted and checked for structural abnormalities. There should be 46 chromosomes, 23 pairs. A boy's karyotype is described as 46,XY and a girl's karyotype is described as 46,XX.&lt;ref&gt;Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., de, l.C., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Lubs, H.A., Mahoney, M.J., Pergament, E., Simpson, J.L., Carpenter, R.J., Elias, S., Ginsberg, N.A., Goldberg, J.D., Hobbins, J.C., Lynch, L., Shiono, P.H., Wapner, R.J. &amp; Zachary, J.M. 1989, &quot;The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities&quot;, New England Journal of Medicine, vol. 320, no. 10, pp. 609-617. &lt;/ref&gt;<br /> <br /> <br /> <br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ This table shows what disorders CVS detects, the cause, frequency and any comments<br /> ! Disorder !! Cause !! Comments !! Frequency !! Picture <br /> |-<br /> |[[ Trisomy 21 | Down Syndrome ]]<br /> |A third copy of chromosome 21<br /> <br /> Normally, there are only two copies of this chromosome<br /> |The average IQ of children with Down syndrome is around 50, compared to normal children with an IQ of 100. Complications for people with down syndrome include: congenital heart defects, gastroesophageal reflux disease, recurrent ear infections, obstructive sleep apnea, and thyroid dysfunctions. &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt; The picture shows a newborn infant with Down Syndrome (Trisome 21)<br /> |Approximately 1 in 1,000 births &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt;<br /> |[[File:Trisomy_21_newborn.jpg|right|200 px]]<br /> |-<br /> |[[ Trisomy 13 | Trisomy 13 ]]<br /> |A third copy of chromosome 13<br /> <br /> Normally, there are only two copies of this chromosome<br /> |Also called Patau syndrome. This abnormality causes mental and motor abnormalities, polydactyly (extra digits), kidney defects, abnormal genitalia and heart defects, among many others. &lt;ref&gt;Driscoll, D.A. &amp; Gross, S. 2009, &quot;Prenatal Screening for Aneuploidy&quot;, New England Journal of Medicine, vol. 360, no. 24, pp. 2556-2562. &lt;/ref&gt; The picture shows an infant with polydactyly, a potential complication of Trisome 13<br /> |Less than 1% <br /> |[[File:220px-Patauhand.PNG|right|200 px]]<br /> |-<br /> |[[ Trisomy 18 | Trisomy 18 ]]<br /> |A third copy of chromosome 18<br /> <br /> Normally, there are only two copies of this chromosome<br /> |Also known as Edwards syndrome. It has a very low survival rate, due to: kidney and heart defects, intestines protruding outside the body, mental abnormalities, growth disorders, feeding and breathing difficulties. &lt;ref&gt;Driscoll, D.A. &amp; Gross, S. 2009, &quot;Prenatal Screening for Aneuploidy&quot;, New England Journal of Medicine, vol. 360, no. 24, pp. 2556-2562. &lt;/ref&gt; The picture shows a clenched hand and overlapping fingers: index finger overlaps third finger and fifth finger overlaps fourth finger, characteristically seen in Trisomy 18.<br /> |1 in 3,000 conceptions and approximately 1 in 6,000 live births <br /> |[[File:200px-Overlapping_fingers.JPG|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Cystic_fibrosis Cystic Fibrosis]<br /> |A mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR) in chromosome 7.<br /> |An autosomal recessive disease that causes excessive sticky mucous to form on mucosal surfaces effecting the digestive and respiratory organs. &lt;ref&gt;Levison, J.H., Barbieri, R.L., Katz, J.T. &amp; Loscalzo, J. 2010, &quot;Hard to Conceive&quot;, New England Journal of Medicine, vol. 363, no. 10, pp. 965-970. &lt;/ref&gt; The picture shows clubbing of the fingers in a person with cystic fibrosis<br /> |Approx 1 in 3,000 <br /> |[[File:220px-ClubbingCF.JPG|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Hemoglobinopathy Hemoglobinopathy]<br /> |Structural abnormalities in the globin proteins <br /> |Multiple types of abnormal haemoglobins exist including Haemoglobin S, C E and D that alter the structure of these proteins. A common defect is sickle cell disease.&lt;ref&gt;Abboud, M.R. 2009, &quot;Hematopoietic Stem-Cell Transplantation for Adults with Sickle Cell Disease&quot;, New England Journal of Medicine, vol. 361, no. 24, pp. 2380-2381. &lt;/ref&gt;<br /> |Hemoglobinopathies are a genetic defect and therefore an inherited disorder, frequency depends on which particular hemoglobinopathy is being discussed, eg. in the case of Sickle cell disease, it is estimated that 7% of worlds population are carriers<br /> |[[File:Series_10-09.jpg|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease Tay Sachs Disease]<br /> |mutations on chromosome 15 in the HEXA gene <br /> |It is a rare autosomal recessive defect inherited from parents that are carriers for the disease. Affected individuals suffer from premature nerve cells death in the brain. &lt;ref&gt;&lt;pubmed&gt;20100466&lt;/pubmed&gt;&lt;/ref&gt;<br /> |Approx 1 in 300 are carriers<br /> |[[File:220px-Autorecessive.svg.png|right|200 px]]<br /> |-<br /> |}<br /> <br /> =Outcomes=<br /> <br /> Since CVS is able to detect a variety of chromosome abnormalities, there is a chance that the baby may be affected with a defect. If the test results are normal however, this does not exclude other congenital defects and neural tube defects that can occur that can be detected by other prenatal diagnosis methods. IF the test result is positive and a defect is detected by CVS, the mother has several options available. One is to terminate the pregnancy and the other is to seek treatment after the baby is born. If the mother chooses to terminate the pregnancy, doctors have a responsibility to educate the mother and offer counseling.<br /> <br /> Doctors should:<br /> <br /> *Give parents information about the defect so that they can be prepared.<br /> *Talk to parents about the baby's predicted quality of life.<br /> *Should explain any procedures that will be done to the baby after he is born.<br /> *Doctors should do their best to tell parents what the problem is and how serious it is.<br /> <br /> Abortion is the termination of pregnancy, with the removal of the fetus and placenta from the uterus. In Australia, abortion laws vary by state and usually allow this up to a range of about 12 - 20 weeks into the pregnancy, on the grounds of fetal abnormalities, endangerment of the mother and other socio-economic factors.&lt;ref&gt;Cica. N., 1998. Abortion Law in Australia. Parliament of Australia, Parliamentary Library. Accessed September 29. 2010. &lt;http://www.aph.gov.au/library/pubs/rp/1998-99/99rp01.htm&gt;&lt;/ref&gt; If the mother chooses to terminate the pregnancy, counselling is usually done to make sure the parents understand the issues and ethics surrounding abortion.<br /> There are currently two ways to perform an abortion:<br /> <br /> '''Surgical abortion -''' Also called suction aspiration, or suction currette, this is the most common procedure used for first trimester abortion(up to 12 weeks) The cervix is dilated, and a tube is inserted through the cervix and a suction removes the fetus and the placenta. A curette is then used to scrape the wall of the uterus to ensure any remains are not left inside. If later in pregnancy, other surgical techniques are used. <br /> <br /> '''Medical abortion -''' ''(Note: Not applicable in this case due to CVS being performed at 10-12 weeks.)''This involves administration of a drug called mifepristone (RU486). Available for abortions earlier than 2-9 weeks, it is a low-risk and effective method instead of the surgical method earlier in pregnancy. Usage of the drug is available in many countries but is currently restricted in Australia.<br /> <br /> ===Treatment===<br /> <br /> If the mother decides to continue on with the pregnancy, treatment options are necessary for the baby after birth to maintain the health and symptoms associated with a defect. Some of these management options for some of the defects will be discussed below. <br /> <br /> '''Down Syndrome'''<br /> <br /> Treatment and therapies for Down syndrome available include the physical, medical and cognitive problems associated with Down Syndrome. Medical treatment such as surgery or medications, while early intervention programs and therapies help babies and children achieve better quality of life. For example, children with Down Syndrome have a higher risk for having many conditions such as congenital heart defects, problems with the thyroid, muscles, joint, vision and hearing problems. Medications can be used to treat these different problems, such as if the thyroid is affected, a child will benefit from taking thyroid replacement hormones. Medications aim to control the symptoms and reduce the impact the condition will have on the baby. There is no medication that can cure chromosome abnormalities. Some individuals affected with cardiac and gastrointestinal problems may also need surgery soon after birth. Regular screening for vision problems, hearing, hypothyroidism, and other medical conditions should be performed.<br /> <br /> Cognitive development can be assisted with physiotherapy and speech therapy for example. Since children with Down Syndrome can have speech problems due to their relatively small mouths and large tongue, speech therapy can help the child to communicate properly. Physical therapy is often needed since individuals with Down Syndrome have hypotonia (low muscle tone)which needs to be improved by developing motor skills.<br /> <br /> '''Trisomy 13'''<br /> <br /> Since Trisomy 13 causes a range of serious complications like congenital heart disease and brain and spinal cord abnormalities, the survival rate is low, with a median survival time of 2.5 days. &lt;ref&gt;&lt;pubmed&gt;11310997&lt;/pubmed&gt;&lt;/ref&gt; Treatment is usually directed towards the specific symptoms that are present in the affected child, which differs to each individual. In some cases, treatment may include surgical procedures to correct cleft lip and palate, or surgery to correct heart defects. This will depend upon the severity and nature of the abnormalities and symptoms.&lt;Ref&gt;Stewart, K. B., 2007. Trisomy 13 - Patau Syndrome. [Fact sheet] Centre for Genetics Education. Accessed 29 September, 2010. &lt;http://www.genetics.com.au/pdf/factsheets/fs29.pdf&gt;&lt;/ref&gt;<br /> <br /> '''Cystic fibrosis'''<br /> <br /> There is currently no cure for cystic fibrosis, but various treatment methods can manage the symptoms of lung and digestive problems, liver and gallbladder diseases and infertility. Digestive problems can be corrected by having a diet that is low in fat and high in protein, with vitamin supplements. Regular antibiotics are prescribed to prevent and to treat lung infections, and mucolytics are needed to make the mucous less sticky. Other methods to dislodge and remove mucous is manual chest physiotherapy, where it consists of bronchial drainage done manually or mechanically. Manual drainage can be done by performing controlled breathing techniques or the chest is vibrated or clapped to dislodge the mucous out of the airways. &lt;ref&gt;&lt;pubmed&gt;18079549&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> '''Tay-sachs disease'''<br /> <br /> The prognosis for babies with the condition is usually poor, with children living to the age of 4-5.&lt;ref&gt;National Institute of Neurological Disorders and Stroke. 2007. Tay-Sachs Disease Information Page. Accessed September 29, 2010. &lt;http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm&gt;&lt;/ref&gt; Therefore treatment for Tay-sachs disease is usually to help alleviate symptoms associated with the disease. Spasticity and siezures can be helped by administering anticonvulsants, while other supportive methods include respiratory care to keep the airway open and proper nutrition and hydration.<br /> <br /> =Ethical concerns=<br /> <br /> =Current associated research=<br /> <br /> Chorionic Villus Sampling (CVS) is one of many prenatal diagnostic tools for expectant mothers, it is popular since it can be used to identify potential problems with a fetus at a very early stage. However, the procedure does carry some risks, as does any invasive diagnostic procedure. As chorionic villus sampling is a relatively new technique, made available for safe routine use only 20 years ago, the current associated research is mainly associated with risks associated with the procedure, and ways to overcome these risks. The next section in this page will discuss the current research on CVS and the risks involved in the procedure, and not what the test results may find. <br /> <br /> ====Hypertensive disorders of pregnancy====<br /> <br /> Hypertension, or high blood pressure, is a condition where systemic arterial blood presssure is elevated. Hypertension is one of the most common medical problem during pregnancy, affecting about 2-3% of pregnancies.&lt;ref&gt;Gibson, P., Carson, M.P, 2010. Hypertension and Pregnancy. Accessed 29 September, 2010. &lt;http://emedicine.medscape.com/article/261435-overview&gt;&lt;/ref&gt;<br /> Pregnancy induced hypertension is a condition that can occur during and after the 20th week of pregnancy. The types of hypertensive disorders can include:<br /> <br /> [[File:Enamel_Hypoplasia_Due_to_Maternal_Toxemia.jpg|thumb|200px|right|Enamel hypoplasia due to maternal toxemia]]<br /> <br /> *Pre-eclampsia or toxemia – Characterised as high blood pressure above 140/90 with proteinuria (protein in the urine that is above 300mg)<br /> * Eclampsia - Developed in a pregnant woman who has had pre-eclampsia and is characterised by seizures <br /> * Gestational hypertension – arterial hypertension that occurs after the 20th week of gestation <br /> <br /> If untreated, the condition may develop into HELLP syndrome which is a serious complication noted by hemolytic aneamia, elevated liver enzymes and a low platelet count. <br /> <br /> <br /> There has been conflicting evidence in literature that suggests that CVS is associated with hypertensive disorders in pregnancy such as pre-clampsia and gestational hypertension. In several studies, such as data from the National Institute of Health that compared late CVS procedures with early amniocentesis, showed a higher rite of gestational hypertension and preeclampsia in pregnant mothers.&lt;ref&gt;&lt;pubmed&gt;15738029&lt;/pubmed&gt;&lt;/ref&gt; (5.4% for mothers who had CVS and 3.5% that had amniocentesis.) It was hypothesized that disruption and disturbance of the placenta at 13-14 weeks may increase the risk of maternal hypertension. In addition, another recent study in 2006 also reported that there was an increase in the rate of pre-clampsia in first-time expectant mothers who have had CVS.&lt;ref&gt;&lt;pubmed&gt;19455602&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> However, in a very recent data investigation of among 9098 women that were pregnant between 1990 and 2006, the overall incidence of hypertensive disorders with women who have had CVS was 2.7% compared to the control group that did not have the procedure done which was 7.1%.&lt;ref&gt;&lt;pubmed&gt;19918960&lt;/pubmed&gt;&lt;/ref&gt; Similarly, in a study conducted by The American College of Obstetricians and Gynecologists,&lt;ref&gt;&lt;pubmed&gt;20664398&lt;/pubmed&gt;&lt;/ref&gt; 31, 138 women were that were included in the investigation showed that 2.2% developed preeclampsia and 2.8% developed gestation hypertension. Only 7.8% of those individuals had previously had CVS procedure performed. <br /> <br /> Although it can be said that some woman may develop hypertensive disorders during pregnancy that have also had the CVS procedure done in the past, there is no conclusive evidence so far that definitively associates CVS with hypertensive disorders such as pre-clampsia and gestation hypertension.<br /> <br /> ====Malformations====<br /> [[File:Craniosynostosis_.jpg|right|250 px]]<br /> <br /> <br /> Many malformations were thought to be a result of more invasive prenatal diagnostic techniques such as chorionic villus sampling. These malformations include, but are not limited to, cardiac malformations, hypospadias, craniosynostosis, pyloric stenosis, inguinal hernia, polydactyly, syndactyly, hydrocephalus and cleft lip and palate. Although these studies have now confirmed no known relationship with CVS, we will mention some below. &lt;ref&gt;&lt;pubmed&gt;7937577&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> '''Craniosynostosis''' is a condition where one of the sutures of the skull prematurely fuses, this causes the other sutures to compensate in growth for the fused suture. In normal development of the skull, the sutures allow for brain growth, so if one suture fuses prematurely, the brain can not grow normally, and the other sutures over expand in compensation. In the shown image, pictures a1 and a2 show the normal development and fusing of the infant skull. b2 shows how a suture is prematurely fused and b1 shows how the abnormality shows in an infant child.<br /> Craniosyntosis may result in increased pressure on the brain and developmental delays. Treatment of craniosynostosis usually consists of surgery to the skull where a zigzag incision is made to make the hair look more natural than the scar left by a straight incision. The surgery separates the sutures that have joined together to allow the head to develop normally.<br /> <br /> &lt;ref&gt;Silver, R.K., Macgregor, S.N., Muhlbach, L.H., Knutel, T.A. &amp; Kambich, M.P. 1994, &quot;Congenital malformations subsequent to chorionic villus sampling: Outcome analysis of 1048 consecutive procedures&quot;, Prenatal diagnosis, vol. 14, no. 6, pp. 421-427. &lt;/ref&gt;<br /> <br /> [[File:Polydactyly.jpg|left|200 px]]<br /> '''Polydactyly''' is a congenital condition where an extra digit is formed. Mostly it occurs on only one hand or foot, but sometimes can occur on all limbs. The extra digit is mostly a small non-function appendage of skin, less often it is an extension of the adjacent digit, and rarely it is a fully functioning finger that arises from the wrist or ankle joint like the other digits. Polydactyly can be described as: <br /> <br /> ● postaxial polydactyly (arising from the little finger)<br /> <br /> ● preaxial polydactyly (arising from the thumb) or<br /> <br /> ● central polydactyly (arising from anywhere between the other digits)<br /> <br /> Polydactyly is seen in 1 in every 500 births, but the extra digit is usually surgically removed shortly after birth<br /> &lt;ref&gt;&lt;pubmed&gt;20661588&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> [[File:Syndactyly2.JPG|left|200 px]]<br /> '''Syndactyly''' is also a congenital condition, but is seen when digits are fused together. Syndactyly can be described as:<br /> <br /> ● simple syndactyly (where only skin is fused to the adjacent finger)<br /> <br /> ● complex syndactyly (where the bone is fused together)<br /> <br /> ● incomplete syndactyly (where fusion is only part of the way up the digit), and,<br /> <br /> ● complete syndactyly (where fusion is to the tip of the digit)<br /> <br /> The picture on the left shows an example of polysyndactyly, where the digits are both fused, and there is an extra digit.<br /> &lt;ref&gt;&lt;pubmed&gt;20811188&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> <br /> <br /> <br /> <br /> ====Hemangiomas====<br /> <br /> [[File:Capillary_haemangioma.jpg|thumb|200px|right|Hemangioma]]<br /> <br /> A hemangioma is a benign tumour growth of endothelial cells that can occur in newborns and infants. Hemangiomas can occur anywhere in the body but are often localised on the skin of the face and neck, and are characterised by a red to reddish purple raised lesion on the skin, similarly to a &quot;strawberry&quot; like appearance. Its red appearance is due to the newly formed blood vessels, which result from the malformation of angioblastic tissues of fetal life.&lt;ref&gt;&lt;pubmed&gt;7063565&lt;/pubmed&gt;&lt;/ref&gt; <br /> Most hemangiomas do not cause any serious complications, and regress later on in life, where 90% of hemangiomas in children would disappear by the age of 9. <br /> <br /> Recently, research has linked the increase in the incidence of hemangiomas in infants following CVS. It has been postulated that the mechanism of hemangioma formation is associated with the embolisation of angioblasts or endothelial cells from the placenta to the fetal skin.&lt;ref&gt;&lt;pubmed&gt;19218861&lt;/pubmed&gt;&lt;/ref&gt; Although this may link hemangiomas to placental origin, it is unclear how, or whether CVS directly interferes or enhances the formation of these lesions. However, a recent study that compared the effects of CVS and amniocentesis on the prevalence of hemangiomas in infants showed that 27% of the study group had hemangiomas with CVS compared to 9.4% in children with hemangiomas and amniocentesis. &lt;ref&gt;&lt;pubmed&gt;20824891&lt;/pubmed&gt;&lt;/ref&gt; Furthermore, in an previous study conducted in 1995, there was a threefold increase in incidence after trancervical procedure was done, compared to amniocentesis.&lt;ref&gt;Lo, K., Mihm, M. &amp; Fay, A. 2009, &quot;Current Theories on the Pathogenesis of Infantile Hemangioma&quot;, Seminars in ophthalmology, vol. 24, no. 3, pp. 172-177. &lt;/ref&gt;&lt;ref&gt;&lt;pubmed&gt;7784377&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> =Future of Chorionic Villus Sampling and Prenatal diagnosis techniques=<br /> <br /> [[File:FISH_(technique).gif‎|thumb|250 px|FISH technique]]<br /> <br /> [[File:Comparative_Genomics.jpg|thumb|250 px|Comparative Genomics]]<br /> <br /> Prenatal diagnosis has been used to detect chromosomal abnormalities, especially Down’s syndrome, for over 30 years. As we have discussed on this page, the most common forms of prenatal diagnosis are amniocentesis, CVS and ultrasound. The type of test used depends on the history of the parents, any abnormalities detected in the initial ultrasound examination, and preferences of the parents. Testing for chromosomal abnormalities using amniocentesis and CVS is invasive and somewhat time consuming. Some recent advancements in this field include the use of fluorescence in situ hybridisation (FISH), quantitative fluorescence-PCR techniques, and comparative genomics. Although these techniques are currently still invasive, the waiting time for these tests is usually only 1 to 2 days for chromosomal abnormalities. &lt;ref&gt;&lt;pubmed&gt;20014413&lt;/pubmed&gt;&lt;/ref&gt; This waiting time would mean a much less stressful waiting period for the parents. The future of prenatal diagnosis certainly lies in the field of non invasive techniques, and research in the field of prenatal diagnosis is looking toward making detection of abnormalities non invasive, using the fetal cells from maternal circulation. &lt;ref&gt;&lt;pubmed&gt;20014413&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> '''Fluorescence in situ hybridisation (FISH):''' FISH is a cytogenetic technique, involving analysing the number and shape of the chromosomes of cells. FISH detects the addition or deletion of specific DNA sequences on chromosomes using florescent probes that bind to a similar sequence of chromosomes. Once the florescence probes are attached, fluorescence microscopy is used to view the chromosomes and detect the abnormality. In prenatal diagnosis, FISH is useful for detecting trisomy and monosomy conditions.[http://en.wikipedia.org/wiki/Fluorescent_in_situ_hybridization More about FISH]<br /> <br /> <br /> '''Comparative genomics:''' Comparative Genomics is a very new research field where the genome sequence of different organisms are compared. This comparison between organisms shows where a species genomes have been conserved (stabilising selection) and where differences occur (positive selection). Many species share the same genes, and comparative genomics can show what species share genes and which genes are different among species. This information can help us understand the function of different genes and identify and control diseases. The purpose is to gain a better understanding of how species have evolved and to determine the function of genes. In prenatal diagnosis, fetal cells can be viewed and compared against both parents genome, any change that deviates from the normal pattern due to too much or too little DNA can be seen, this deviation of the normal pattern means a certain chromosome has either been copied or deleted, causing disease. [http://www.ornl.gov/sci/techresources/Human_Genome/faq/compgen.shtml More about Comparative Genomics]<br /> <br /> =Useful links=<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Wikipedia'''[http://en.wikipedia.org/wiki/Chorionic_villus_sampling Chorionic villus sampling]<br /> <br /> '''Fact sheets''' [http://www.thewomens.org.au/ChorionicVillusSamplingCVS Chorionic villus sampling]<br /> <br /> '''Images''' [http://www.google.com.au/images?q=chorionic+villus+sampling&amp;oe=utf-8&amp;rls=org.mozilla:en-US:official&amp;client=firefox-a&amp;um=1&amp;ie=UTF-8&amp;source=univ&amp;ei=yCWcTKT-NsircY-nzNEJ&amp;sa=X&amp;oi=image_result_group&amp;ct=title&amp;resnum=4&amp;ved=0CD4QsAQwAw&amp;biw=1280&amp;bih=615 Chorionic villus sampling]<br /> <br /> '''You tube video of procedure''' [http://www.youtube.com/watch?v=0XUZsvTkEnw Chorionic villus sampling]<br /> <br /> =Glossary=<br /> <br /> '''Amniocentesis''' - A prenatal diagnostic test involving sampling of amniotic fluid by needle aspiration for genetic analysis.<br /> <br /> '''Amnion''' - An extraembryonic membrane ectoderm and extraembryonic mesoderm in origin and forms the innermost fetal membrane, produces amniotic fluid. This fluid-filled sac initially lies above the trilaminar embryo disc and with embryoic disc folding this sac is drawn ventrally to enclose (cover) the entire embryo, then fetus.<br /> <br /> '''Amniotic cavity''' - The fluid-filled (amniotic fluid) extraembryonic coelom (cavity) formed initially by epiblast and then ectoderm and surrounding extraembryonic mesoderm. In humans, it forms the innermost fetal membrane, produces amniotic fluid expanding to fuse with the chorionic membrane during week 8 of development.<br /> <br /> '''Amniotic fluid''' - The fluid that fills amniotic cavity totally encloses and cushions the embryo.<br /> <br /> '''Cannula''' - A flexible medical tube with a sharp-pointed part at one end that is inserted into a duct, vein, or cavity in order to drain away fluid or to administer drugs<br /> <br /> '''Chorion''' - The extraembryonic membrane generated from trophoblast and extraembryonic mesoderm that forms placenta. chorion and amnion are made by the somatopleure. The chorion becomes incorporated into placental development. The avian and reptilian chorion lies beside the egg shell and allows gas exchange.<br /> <br /> '''Chorionic villus sampling (CVS)''' - The taking a biopsy of the placenta, usually at the end of the second month of pregnancy, to test the fetus for genetic abnormalities.<br /> <br /> '''Chromosome''' - double stranded DNA coiled around histones. Condenses during mitosis and meiosis.<br /> <br /> '''Ectoderm''' - One of the initial 3 germ cell layers, which will form the nervous system from the neural tube and neural crest and also generates the entire epithelial layer of the skin covering the embryo.<br /> <br /> '''Endoscope''' - a long slender medical instrument for examining the interior of a bodily organ or performing minor surgery<br /> <br /> '''Endoderm''' - One of the initial 3 germ cell layers (ectoderm, mesoderm and endoderm) formed by the process of gastrulation. The endoderm forms as a cuboidal epithelium and contributes not only to the trilaminar embryo, but also lines the yolk sac. It will form the entire epithelial lining of the gastrointestinal tract (GIT), contribute to the accessory organs of GIT and also forms the epithelial lining of the respiratory tract.<br /> <br /> '''Fetus''' - In mammals, term describes the period of development following the embryonic period. In humans, the development week 9 to 36 is the fetal stage (second and third trimester). (see fetal period above). This term is also used non-scientifically to describe the human conceptus at both embryonic and fetal stages of development.<br /> <br /> '''Gene''' - A DNA sequence that is transcribed as a single unit and encodes a single polypeptide (protein) or a set of closely related polypeptides. There are approximately 20,000-25,000 protein encoding genes in the human genome. In each cell, DNA is found within the nucleus and also within mitochondria.<br /> <br /> '''Gestation''' - The period of time from conception to birth. A pregnancy with multiple fetuses is referred to as a multiple gestation.<br /> <br /> '''Mesoderm''' - The middle layer of the 3 germ cell layers of the trilaminar embryo.<br /> <br /> '''Miscarriage''' - A general clinical term for the loss of embryo or fetus by spontaneous abortion.<br /> <br /> '''Mitosis''' - The normal division of all cells, except germ cells, where chromosome number is maintained (diploid). <br /> <br /> '''Prenatal diagnosis''' - any of the diagnostic procedures used to determine whether a fetus has a genetic abnormality<br /> <br /> '''Tenaculum''' - instrument used to grasp the cervix and keep the uterus in place during gynecological procedures.<br /> <br /> '''Termination''' - The spontaneous or artificially induced expulsion of an embryo or fetus. As used in legal context, the term usually refers to induced abortion.<br /> <br /> '''Transabdominal''' - In the transabdominal CVS technique, the physician inserts a needle through the abdomen into the placenta. This is also done with ultrasound, to guide the physician<br /> <br /> '''Transcervical''' - In the transcervical CVS technique, the physician inserts a small tube through the cervix into the placenta. This is done while ultrasound guides the physician<br /> <br /> '''Ultrasound''' - A non-invasive technique for visualizing and prenatal diagnosis of several features of development including: follicles in the ovaries, the gestational sac, fetus in the uterus, fetal parameters, and the placenta. The technique uses high-frequency sound waves that are reflected off internal structures. These reflections can then be analysed and displayed by computer.<br /> <br /> '''Villi''' - Plural of villus, which is a thin projection from a surface. A term used to describe the many functional units together of the fetal placenta. <br /> <br /> '''Vitelline arteries and veins''' - The blood vessels which form in the extraembryonic mesoderm of the yolk sac and anastomose are called vitelline arteries (flow away from the embryo) and vitelline veins (flow toward the embryo).<br /> <br /> ==Prenatal Diagnosis Terms==<br /> <br /> '''false negative rate''' - The proportion of pregnancies that will test negative given that the congenital anomaly is present.<br /> <br /> '''false positive rate''' - The proportion of pregnancies that will test positive given that the congenital anomaly is absent.<br /> <br /> '''negative predictive value''' - The probability that a congenital anomaly is absent given that the prenatal screening test is negative.<br /> <br /> '''positive predictive value''' - The probability that a congenital anomaly is present given that the prenatal screening test is positive.<br /> <br /> '''pre-implantation genetic diagnosis''' - (PGD) a screening procedure for embryos produced through in vitro fertilisation (IVF) for genetic diseases that would generate developmental abnormalities or serious postnatal diseases.<br /> <br /> '''prenatal screening sensitivity''' - (detection rate) The probability of testing positive on a prenatal screening test if the congenital anomaly is present.<br /> <br /> '''prenatal screening specificity''' - The probability of testing negative on a prenatal screening test if the congenital anomaly is absent.<br /> <br /> <br /> ==Glossary Links==<br /> <br /> :[[A|A]] | [[B|B]] | [[C|C]] | [[D|D]] | [[E|E]] | [[F|F]] | [[G|G]] | [[H|H]] | [[I|I]] | [[J|J]] | [[K|K]] | [[L|L]] | [[M|M]] | [[N|N]] | [[O|O]] | [[P|P]] | [[Q|Q]] | [[R|R]] | [[S|S]] | [[T|T]] | [[U|U]] | [[V|V]] | [[W|W]] | [[X|X]] | [[Y|Y]] | [[Z|Z]] | [[Numbers|Numbers]]<br /> <br /> =References=<br /> &lt;references/&gt;<br /> <br /> == 2010 ANAT2341 Group Projects ==<br /> <br /> [[2010_Group_Project_1|Project 1 - Ultrasound]] | [[2010_Group_Project_2|Project 2 - Chorionic villus sampling]] | [[2010_Group_Project_3|Project 3 - Amniocentesis]] | [[2010_Group_Project_4|Group Project 4 - Percutaneous Umbilical Cord Blood Sampling]] | [[2010_Group_Project_5|Project 5 - Fetal Fibronectin]] | [[2010_Group_Project_6|Project 6 - Maternal serum alpha-fetoprotein]] | [[ANAT2341_2010_Students|Students Page]]<br /> <br /> <br /> {{Template:Footer}}<br /> [[Category:2010ANAT2341]] [[Category:Science-Undergraduate]]</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=2010_Group_Project_2&diff=39558 2010-10-06T03:36:27Z

<p>Z3265772: /* Future of Chorionic Villus Sampling and Prenatal diagnosis techniques */</p> <hr /> <div>[[File:Embryo_11-14_weeks.jpg|right|400 px]]<br /> <br /> ='''Chorionic Villus Sampling (CVS)'''=<br /> <br /> =Introduction=<br /> <br /> [[Image:Gray31.png|thumb|350px|right|Grays]]<br /> <br /> <br /> Chorionic villus sampling or CVS is a type of prenatal diagnosis test performed in the first trimester to detect major fetal abnormalities such as down syndrome, cystic fibrosis and tay-sachs disease, among many others. In the procedure, tissue is withdrawn from small finger like projections on the placenta called chorionic villi and tested for chromosomal defects. It is commonly performed between 10 and 12 weeks of pregnancy. <br /> The advantage of CVS over other procedures is that the result is available approx 6 weeks earlier in the pregnancy, so if a termination is needed, it can be done earlier which is much safer, rather than later in the pregnancy, which can carry more risks. &lt;ref&gt;Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., de, l.C., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Lubs, H.A., Mahoney, M.J., Pergament, E., Simpson, J.L., Carpenter, R.J., Elias, S., Ginsberg, N.A., Goldberg, J.D., Hobbins, J.C., Lynch, L., Shiono, P.H., Wapner, R.J. &amp; Zachary, J.M. 1989, &quot;The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities&quot;, New England Journal of Medicine, vol. 320, no. 10, pp. 609-617.&lt;/ref&gt;<br /> <br /> ''Reasons for getting chorionic villus sampling can include:''<br /> <br /> -History of genetic disorders in the family<br /> <br /> -Parents have already had a child with a disorder such as down syndrome or cystic fibrosis<br /> <br /> -Abnormal ultrasound result<br /> <br /> -Maternal age of 35 or older, which increases the risk of chromosomal defects such as down syndrome<br /> <br /> <br /> =Historic background=<br /> <br /> <br /> '''Brief timeline of CVS use'''<br /> <br /> *1968 - Mohr in Scandinavia introduced the concept of prenatal diagnosis using chorionic villi sampling &lt;ref&gt;&lt;pubmed&gt;5691288&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1973 - Kullander and Sandahl and Hahnemann in 1974 showed further study into chromosomal analysis from CVS &lt;ref&gt;&lt;pubmed&gt;4766093&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1975 - from the Department of Obstetrics and Gynaecology at the Tietung Hospital in Anshan, China was successful in using CVS to determine sex of fetuses for sex pre selection. &lt;ref&gt;&lt;pubmed&gt;811431&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1980 - Kazy et al. were the first to use ultrasound guidance during chorionic villi sampling. &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1981 - Niazi et al. improved methods for culturing of fibroblasts from trophoblast villi. &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1983 - Ward performed transcervical CVS with 67% success rate. In the same year, the Brombati group demonstrated and 96% success rate with obtaining villi with the aid of ultrasound guidance &lt;ref&gt;&lt;pubmed&gt;6463023&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1984 - Smidt-Jensen and Hahnemann introduced transabdominal CVS under ultrasound guidance &lt;ref&gt;&lt;pubmed&gt;4088973&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1986 - The Golbus group had a 3.8% miscarriage rate, and subsequently many other clinics started reporting a much lower rate of miscarriage at 1.7% making the procedure safe for routine use &lt;ref&gt;&lt;pubmed&gt;3717235&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> ===Jan Mohr (1921-2009)===<br /> [[Image:Jan_Mohr.jpg|thumb|200px|left|Jan Mohr]]<br /> <br /> <br /> '''1968 -- Concept of CVS introduced'''<br /> <br /> In 1968 Jan Mohr introduced the concept of prenatal diagnosis using the CVS technique. &lt;ref&gt;&lt;pubmed&gt;5691288&lt;/pubmed&gt;&lt;/ref&gt; He used the transcervical method to get a biopsy of the chorion using an endoscope as the source of vision. The current technique differs by using mostly transabdominal access with ultrasound instead of an endoscope. He reported a 96% success rate in obtaining chorionic material but with a high incidence of bleeding and infection. The approach was abandoned as amniocentesis became more popular due to higher safety levels<br /> <br /> <br /> <br /> '''1973-1975 -- Further study into chromosomal analysis from CVS'''<br /> <br /> Kullander and Sandahl in 1973 and Hahnemann in 1974 further researched fetal chromosome analysis using transcervical biopsy before termination in early pregnancies. &lt;ref&gt;&lt;pubmed&gt;4766093&lt;/pubmed&gt;&lt;/ref&gt; In 1975 the first successful diagnostic use of chorionic villi was reported at the Tietung Hospital in China. &lt;ref&gt;&lt;pubmed&gt;811431&lt;/pubmed&gt;&lt;/ref&gt; This is where fetal sex was diagnosed for the purpose of sex pre-selection. They claimed to have 94% diagnosis success and only 4% miscarriage rate. Researchers in the United States were, however unable to duplicate the results and so the idea of CVS diagnosis was again abandoned for some time.<br /> <br /> <br /> '''1980-1983 -- Change from endoscopic examination to ultrasound to guide CVS'''<br /> <br /> With the invention of the ultrasound and advancement in molecular genetics, an earlier prenatal diagnosis was now sought after. So Kazy et al. in 1980, began using both the endoscope and the ultrasound for fetal sexing on chorion biopsies. This was the first report of using ultrasound guidance during chorion sampling. After Kazy et.al. began using the ultrasound for guidance, many others followed. Niazi et al., Ward and the Brombati group all started using ultrasound guided CVS. Techniques quickly improved and success rate of obtaining chorionic material rose from 75% to 96% &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> '''1984-1986 -- The introduction of transabdominal CVS'''<br /> <br /> In 1984, Smidt-Jensen and Hahnemann in Copenhagen introduced transabdominal CVS using ultrasound guidance. &lt;ref&gt;&lt;pubmed&gt;6463023&lt;/pubmed&gt;&lt;/ref&gt; With less chance of infective complications the procedure has become more popular than the transcervical method in many prenatal diagnostic centers. Other ultrasonic techniques and modifications were explored by the Brambati and Simoni group and the Golbus group in 1985. &lt;ref&gt;&lt;pubmed&gt;4088973&lt;/pubmed&gt;&lt;/ref&gt; The Golbus group reported in 1986 a miscarriage rate of 3.8%. &lt;ref&gt;&lt;pubmed&gt;3717235&lt;/pubmed&gt;&lt;/ref&gt; Subsequently, many other centres reported a much lower miscarriage rate of 1.5% which made the procedure safe for routine use.<br /> <br /> ==Table Comparing Prenatal Diagnosis Techniques==<br /> <br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ This table shows invasiveness and timeframe for some prenatal diagnostic techniques<br /> ! Invasiveness !! Diagnostic technique !! Comments !! Time that procedure can be performed !! Diagram<br /> |-<br /> |Non Invasive<br /> |[[2010_Group_Project_1|Ultrasound]]<br /> |'''Tests for:''' neural tube defects, chromosomal abnormalities and congenital heart abnormalities<br /> <br /> '''Risks:''' No risks currently indicated for ultrasound use in prenatal diagnosis. <br /> <br /> This test uses high frequency sound waves through a transmitting device, which construct a picture of the fetus when the waves are reflected and received back by the transmitter. Due to no known risks, ultrasound use is used routinely in pregnancies and is the first port of call for prenatal diagnosis. If a potential abnormality is found or the parents are high risk, then a more invasive diagnostic technique may be recommended. The type of diagnostic technique used depends on the potential abnormality found. &lt;ref&gt;Kremkali, F.W. (2006) Diagnostic Ultrasound Principles and Instruments (7th ed.) St Louis: Saunders Elsevier. pp3-5&lt;/ref&gt;[[2010_Group_Project_1|More about Ultrasound]]<br /> |Weeks 18-20<br /> |[[File:ZConvex_Array_Transducer.jpg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> |'''Tests for:''' chromosomal abnormalities and genetic abnormalities <br /> <br /> '''Risks:''' Miscarriage (1%), some of the side effects include dizziness, abdominal discomfort, cramping, haemorrhage, infection, ruptured amniotic sac, increased risk of limb defects if the test was performed at nine weeks’ gestation or earlier &lt;ref&gt;Alfirevic, Z., K. Sundberg, et al. 2008. &quot;Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review).&quot; Cochrane Database of Systematic Reviews 4: 1-134.&lt;/ref&gt;<br /> <br /> With the guidance of Ultrasound, a needle is inserted in to the abdomen or through the cervix and a small sample of chorionic villi from the placenta are obtained. This sample is sent to a cytogenetics laboratory where the cells are cultured and stained, and photographed to view chromosomes <br /> |Weeks 10-12<br /> |[[File:Transabdominal_CVS.jpg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_3|Amniocentesis ]] <br /> |'''Tests for:''' chromosomal abnormalities, fetal infections, and genetic abnormalities<br /> <br /> '''Risks:''' Miscarriage &lt;1%, stillbirths 3%, and small risk of infection. &lt;ref&gt;&lt;pubmed&gt;PMC2464303&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> A needle is inserted in to the uterus where a sample of the amniotic fluid surrounding the fetus is taken. This procedure is usually done with the guidance of ultrasound so the physician can see where the needle is being inserted. The amniotic fluid is analysed for abnormalities. [[2010_Group_Project_3|More about Amniocentesis ]]<br /> |Weeks 15-16<br /> |[[File:Process_of_amniocentesis.jpeg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_4|Percutaneous Umbilical Cord Blood Sampling]]<br /> |'''Tests for:'''chromosomal abnormalities, blood disorders, some metabolic disorders, fetal infections, and some causes of structural problems.<br /> <br /> '''Risks:'''Miscarriage &lt;2%, Preterm labour, fetal bradycardia, bleeding of the umbilical cord. &lt;ref&gt;&lt;pubmed&gt;16530195&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> A small needle is inserted in to the abdomen of the mother and a sample of blood is taken from the umbilical vein in the umbilical cord. This technique is often used when other diagnostic techniques are inconclusive, but should be used with caution as carries higher risk rates. The benefit of Percutaneous Umbilical Cord Blood Sampling is that the results are available much faster, within 72 hours of testing. CVS and amniocentesis tests need culturing and therefore take up to 11 days for a result. [[2010_Group_Project_4|More about Percutaneous Umbilical Cord Blood Sampling]]<br /> |Weeks 18-22<br /> |[[File:Placenta_Anterior.jpg|right|150 px]]<br /> |-<br /> |Less Invasive<br /> |[[2010_Group_Project_5|Fetal Fibronectin]]<br /> |'''Tests for:'''determines the likelihood of premature birth in women of high risk<br /> <br /> '''Risks:'''No known risks for the testing of Fetal Fibronectin, as is it less invasive than other techniques.<br /> <br /> Fetal Fibronectin is only found in the uterus until the onset of labour when is secretes in through the cervix. In this procedure, a sample of the cervico-vaginal secretions are taken and sent to the lab for testing. If the test comes out positive for Fetal Fibronectin in the vagina, the mother has a chance of going into premature labour. [[2010_Group_Project_5|More about Fetal Fibronectin]]<br /> |Weeks 24-34<br /> |[[File:FetalFN.jpg|right|150 px]]<br /> |-<br /> |Non Invasive<br /> |[[2010_Group_Project_6|Maternal serum alpha-fetoprotein]]<br /> |'''Tests for:'''AFP is a type of screening test and do not diagnose problems, but signal whether further testing is needed. Normal AFP levels are increased in Neural Tube Defects and Omphalocoele &amp; decreased in Down Syndrome.<br /> <br /> '''Risks:'''No known risks as Maternal serum alpha-fetoprotein is non invasive<br /> <br /> A blood sample is taken from the mother and alpha-fetoprotein levels are measured in the lab. These measurements can determine the risk level of certain abnormalities in the fetus. The advantage is that it is non invasive, but the disadvantage is that it has a very high false positive rate, so many mothers have gone on to have amniocentesis or chorionic villus sampling to find nothing is wrong with the baby. This can be overcome by having another alpha-fetoprotein test before getting amniocentesis or chorionic villus sampling. [[2010_Group_Project_6|More about Maternal serum alpha-fetoprotein]]<br /> |Weeks 15-20<br /> |[[File:Enzyme_immunoassay.jpg|right|150 px]]<br /> |-<br /> |}<br /> <br /> =Description of technique=<br /> [[File:Gray37.png|right|thumb|280px|Sample is taken from the chorionic villi]]<br /> [[File:transabdominal_CVS.jpg|right|thumb|280px|Transabdominal Technique]]<br /> [[File:transcervicalCVS.jpg|right|thumb|280px|Transcervical Technique]]<br /> <br /> The CVS procedure involves taking a sample of the chorion frondosum — the part of the chorionic membrane containing the villi. Between 10-12 weeks of pregnancy, the developing gestational sac is composed of a thick, outer chorionic membrane surrounding the amniotic cavity, a thin amniotic membrane and the chorionic cavity. The chorionic villi have now degenerated over most of the outer membrane, forming the chorion laeve, and the remaining villi fuses and embeds loosely into the decidua basalis. This forms the chorion frondosum, which will ultimately become the placenta. At this stage, the villi float freely in the blood of the intervillus space. Each villi is branched, and is composed of an outer syncytiotrophoblast and an inner cytotrophoblast layer. Within the centre of each villus is a mesenchymal core which contain capillaries carrying fetal blood. In CVS, usually samples of both cells lines (cytotrophoblasts and mesenchymal cells) are obtained. Chromosomal analysis of these cell lines can be performed by means of direct preparations, short-term cultures (cytotrophoblasts), or long-term cultures (mesenchymal cells) of the chorionic villi.&lt;ref&gt;Jenkins, T.M, Wapner, R.J, 1999. First trimester prenatal diagnosis: Chorionic villus sampling. Seminars in Perinatology. pp403-413.&lt;/ref&gt; <br /> <br /> CVS can be performed in two ways, through the cervix (transcervical) or through the abdomen (transabdominal). Both techniques are equally safe when performed by an experienced technician, however miscarriage rates are somewhat higher when done through the cervix. Prior to the procedure, an abdominal ultrasound can be performed to locate the position of the uterus, and the placenta. A full bladder is not required. Depending on the type of method performed, the vulva, vagina, cervix or abdomen are cleaned with antiseptic. The procedure normally takes only 1-2 minutes to perform and the patient is able to leave the clinic within the hour after the fetus is checked.&lt;ref&gt;Melbourne Ultrasound for Women. Chorionic Villus Sampling. Accessed 5 September 2010. http://www.nevdgp.org.au/info/melb_us/cvs_melb.htm&lt;/ref&gt; <br /> <br /> ===Transabdominal Procedure===<br /> <br /> # A local anaesthetic is first applied to the abdomen.&lt;br&gt;<br /> # A thin hollow needle is then inserted through the abdomen into the uterus and into the edge of the placenta where the chorion is located. An ultrasound transducer is commonly used to guide the needle during the procedure. &lt;br&gt;<br /> # A finer syringe needle is then passed through the outer needle, and the tissue is then drawn.&lt;br&gt;<br /> # The sample is taken to the laboratory for testing. <br /> <br /> ===Transcervical Procedure===<br /> # A speculum is inserted in the vagina and the area is cleaned with antiseptic.&lt;br&gt;<br /> # With the help of ultrasound imaging, a thin cannula is then inserted through the cervix and uterus and into the placenta.&lt;br&gt;<br /> #The tissue sample is then taken up through the cannula.&lt;br&gt;<br /> &lt;ref&gt;&lt;pubmed&gt;20154617&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> After the sample is taken to the laboratory, the cells are grown until there are enough cells for chromosome testing. The results normally take up to 2 weeks to complete.<br /> <br /> ===Complications===<br /> <br /> Some of the side effects and complications after a CVS procedure can include:<br /> <br /> * Dizziness <br /> * Abdominal discomfort<br /> * Cramping<br /> * Haemorrhage<br /> * Infection<br /> * Ruptured amniotic sac<br /> * Increased risk of limb defects if the test was performed at nine weeks’ gestation or earlier<br /> * Premature delivery<br /> &lt;ref&gt;Alfirevic, Z., K. Sundberg, et al. 2008. &quot;Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review).&quot; Cochrane Database of Systematic Reviews 4: 1-134.&lt;/ref&gt;<br /> <br /> Additional complications can involve technical errors such as failure of the specimen to grow sufficiently in the laboratory and uncertain laboratory results. If this occurs, amniocentesis is still an option after 15 weeks.<br /> <br /> ===Results and Accuracy===<br /> <br /> The accuracy of CVS to detect chromosome abnormalities is quite high, at around 98-99% &lt;ref&gt;Hall, Judith G. &quot;Chromosomal Clinical Abnormalities.&quot; In Nelson Textbook of Pediatrics. Edited by Richard E. Behrman et al. Philadelphia: Saunders, 2004.&lt;/ref&gt;. Although it has a high accuracy rate to diagnose most major chromosomal problems, CVS does have some limitations. Having a negative result for an abnormality does not rule out ALL genetic defects the baby may have. Comparatively to amniocentesis, CVS does NOT detect neural tube defects such as spina bifida, or anencephaly. <br /> The type of chromosome abnormalities detected by CVS will be further discussed in detail below.<br /> <br /> ===Limitations===<br /> [[file:Double_tetrasomy_18_mosaicism.jpg‎|thumb|250 px|Example of a child with double tetrasomy 18+ mosaicism.]]<br /> <br /> '''Maternal contamination'''<br /> <br /> Since the villus sample also involves maternal cells, there is a possibility that they may take over the laboratory culture instead, consequently leading to the mother's cells being tested instead of the fetus's cells. The risk of this happening is low however and is decreased when the sample contains an adequate amount of fetal cells.<br /> <br /> <br /> '''Mosaicism'''<br /> <br /> &quot;Mosaicism&quot; occurs when both abnormal and normal cells are found in the chorionic villi. Mosaicism can involve both the fetus (true fetal mosaicism) and the placental tissues or the placental tissues alone. When this happens, cells that multiply from these abnormal cells may develop a chromosome anomaly.<br /> What can result is that in certain body organs the fetus has a combination of cells that are abnormal and normal in genetic structure. <br /> The rate of the placental type occuring is found in 1-2% of pregnancies detected by CVS.&lt;ref&gt;&lt;pubmed&gt;9316125&lt;/pubmed&gt;&lt;/ref&gt; When mosaicism is detected by CVS, the limitation lies in the inability to conclude that the baby itself and not just the placental tissues will share the mosaicism. Even if the baby is affected, it will be unclear as to what percentage of the fetal cells and the type of organs that will be affected.&lt;ref&gt;Trofatter. K.F. 2008. Chromosomal Mosaicism Detected at the Time of Chorionic Villus Sampling. Accessed on 15 September 2010. http://www.healthline.com/blogs/pregnancy_childbirth/2008/03/chromosomal-mosaicism-detected-at-time.html&lt;/ref&gt;<br /> <br /> =Risks=<br /> <br /> <br /> When Chorionic Villus Sampling is performed, a small sample of the placenta is removed for analysis. The placenta contains fetal material, therefore can reveal genetic defects which may lead to problems or abnormalities. &lt;ref&gt;&lt;pubmed&gt;20664398&lt;/pubmed&gt;&lt;/ref&gt; This prenatal test can be performed as early as 11 weeks into the pregnancy, this is earlier than many prenatal diagnosis tests, which is why many parents choose CVS as they can have solid information earlier in the pregnancy. Some common risks which are not under current research include: Cramping, light blood spotting, pain, fever and chills, leakage (which can be a major concern as it can lower amniotic fluid to a dangerous level for the infant), and potential for missing fingers and toes in the newborn. For this reason, the procedure is only recommended for women who are at least 11 weeks pregnant. &lt;ref&gt;&lt;pubmed&gt;20051662&lt;/pubmed&gt;&lt;/ref&gt; The other major risks that are currently being researched are outlined below<br /> <br /> ====Transabdominal vs Transcervical CVS. Comparison of risks====<br /> <br /> <br /> [[File:CVS_Table.jpg|left|thumb|280px|Transabdominal vs Transcervical risks]]<br /> <br /> This table shows the symptoms of women approximately 3 days after sampling. The table shows women who had undergone transcervical sampling had higher frequencies of fluid leakage, vaginal spotting, and bleeding. When a tenaculum is not used, the frequency of vaginal spotting and bleeding persisted in the transcervical-sampling group. Only two women, both in the transcervical-sampling group, had a temperature above 38°C. &lt;ref&gt;Jackson, L.G., Zachary, J.M., Fowler, S.E., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Mahoney, M.J., Pergament, E., Simpson, J.L., Black, S. &amp; Wapner, R.J. 1992, &quot;A Randomized Comparison of Transcervical and Transabdominal Chorionic-Villus Sampling&quot;, New England Journal of Medicine, vol. 327, no. 9, pp. 594-598.&lt;/ref&gt;<br /> <br /> <br /> ====Miscarriage====<br /> <br /> One of the biggest risks of Chorionic Villus Sampling is miscarriage. In one to 100 or 200 cases, the procedure is linked with miscarriage. &lt;ref&gt;&lt;pubmed&gt;19155918&lt;/pubmed&gt;&lt;/ref&gt; In an experienced clinic, this rate may go down to one in 300 to 400. To lower the risk of miscarriage with Chorionic Villus Sampling, it is recommended the procedure be performed by an experienced clinician<br /> <br /> <br /> ====Oligohydramnios====<br /> <br /> Oligohydramnios is a condition due to low amniotic fluid level, which is caused by amniotic fluid leakage. Amniotic fluid leakage is typically caused by fetal urinary tract abnormalities such as Potter's syndrome, polycystic kidneys, or genitourinary obstruction. But leakage can sometimes be caused by sampling of the chorionic villi due to insertion of the needle. If the resulting oligohydramnios is not treated and the amniotic fluid continues to leak it can result in the baby developing hypoplastic lungs (underdeveloped lungs). &lt;ref&gt;&lt;pubmed&gt;17694578&lt;/pubmed&gt;&lt;/ref&gt;&lt;br&gt;&lt;br&gt;<br /> <br /> <br /> '''Why would you use CVS over other techniques?'''<br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ Advantages and Disadvantages of Chorionic Villus Sampling<br /> ! Advantages !! Disadvantages <br /> |-<br /> |Can be performed earlier in pregnancy than amniocentesis (at around ten weeks).<br /> <br /> Results are available faster<br /> <br /> Cells obtained are mitotically active<br /> <br /> Amount of tissue obtained is preferable for DNA analysis.<br /> <br /> It is almost 100% reliable in detecting chromosomal and genetic defects.<br /> |It carries a slightly higher risk of miscarriage (1%-2%) than does amniocentesis<br /> <br /> It's less commonly available than amniocentesis, and fewer doctors are experienced in the procedure.<br /> <br /> It entails a greater risk of distorted results than does amniocentesis due to presence of mother's cells in the sample and discrepancies between chorionic villi and fetal genes.<br /> <br /> Metabolic disorders are difficult to diagnose and must be confirmed with amniocentesis.<br /> <br /> Because of the early gestational age at which the test is performed, fetal anatomy cannot be seen as well as it can at the time amniocentesis is performed.<br /> |-<br /> |}<br /> &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt;<br /> <br /> =Abnormalities found by CVS prenatal diagnostic technique=<br /> <br /> [[File:Down-normal.gif|right|thumb|280px|Normal]]<br /> <br /> [[File:Down-extra.gif|right|thumb|280px|third copy of chromosome 21]]<br /> <br /> The cells collected by CVS are sent to a cytogenetics laboratory. There the cells are cultured (stimulated to grow and divide) for 10-14 days. After enough cells are obtained, a banded karyotype is performed. This means that the fetal chromosomes in the cultured cells are stained and subsequently photographed. The photographed chromosomes are then ordered by number, counted and checked for structural abnormalities. There should be 46 chromosomes, 23 pairs. A boy's karyotype is described as 46,XY and a girl's karyotype is described as 46,XX.&lt;ref&gt;Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., de, l.C., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Lubs, H.A., Mahoney, M.J., Pergament, E., Simpson, J.L., Carpenter, R.J., Elias, S., Ginsberg, N.A., Goldberg, J.D., Hobbins, J.C., Lynch, L., Shiono, P.H., Wapner, R.J. &amp; Zachary, J.M. 1989, &quot;The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities&quot;, New England Journal of Medicine, vol. 320, no. 10, pp. 609-617. &lt;/ref&gt;<br /> <br /> <br /> <br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ This table shows what disorders CVS detects, the cause, frequency and any comments<br /> ! Disorder !! Cause !! Comments !! Frequency !! Picture <br /> |-<br /> |[[ Trisomy 21 | Down Syndrome ]]<br /> |A third copy of chromosome 21<br /> <br /> Normally, there are only two copies of this chromosome<br /> |The average IQ of children with Down syndrome is around 50, compared to normal children with an IQ of 100. Complications for people with down syndrome include: congenital heart defects, gastroesophageal reflux disease, recurrent ear infections, obstructive sleep apnea, and thyroid dysfunctions. &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt; The picture shows a newborn infant with Down Syndrome (Trisome 21)<br /> |Approximately 1 in 1,000 births &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt;<br /> |[[File:Trisomy_21_newborn.jpg|right|200 px]]<br /> |-<br /> |[[ Trisomy 13 | Trisomy 13 ]]<br /> |A third copy of chromosome 13<br /> <br /> Normally, there are only two copies of this chromosome<br /> |Also called Patau syndrome. This abnormality causes mental and motor abnormalities, polydactyly (extra digits), kidney defects, abnormal genitalia and heart defects, among many others. &lt;ref&gt;Driscoll, D.A. &amp; Gross, S. 2009, &quot;Prenatal Screening for Aneuploidy&quot;, New England Journal of Medicine, vol. 360, no. 24, pp. 2556-2562. &lt;/ref&gt; The picture shows an infant with polydactyly, a potential complication of Trisome 13<br /> |Less than 1% <br /> |[[File:220px-Patauhand.PNG|right|200 px]]<br /> |-<br /> |[[ Trisomy 18 | Trisomy 18 ]]<br /> |A third copy of chromosome 18<br /> <br /> Normally, there are only two copies of this chromosome<br /> |Also known as Edwards syndrome. It has a very low survival rate, due to: kidney and heart defects, intestines protruding outside the body, mental abnormalities, growth disorders, feeding and breathing difficulties. &lt;ref&gt;Driscoll, D.A. &amp; Gross, S. 2009, &quot;Prenatal Screening for Aneuploidy&quot;, New England Journal of Medicine, vol. 360, no. 24, pp. 2556-2562. &lt;/ref&gt; The picture shows a clenched hand and overlapping fingers: index finger overlaps third finger and fifth finger overlaps fourth finger, characteristically seen in Trisomy 18.<br /> |1 in 3,000 conceptions and approximately 1 in 6,000 live births <br /> |[[File:200px-Overlapping_fingers.JPG|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Cystic_fibrosis Cystic Fibrosis]<br /> |A mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR) in chromosome 7.<br /> |An autosomal recessive disease that causes excessive sticky mucous to form on mucosal surfaces effecting the digestive and respiratory organs. &lt;ref&gt;Levison, J.H., Barbieri, R.L., Katz, J.T. &amp; Loscalzo, J. 2010, &quot;Hard to Conceive&quot;, New England Journal of Medicine, vol. 363, no. 10, pp. 965-970. &lt;/ref&gt; The picture shows clubbing of the fingers in a person with cystic fibrosis<br /> |Approx 1 in 3,000 <br /> |[[File:220px-ClubbingCF.JPG|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Hemoglobinopathy Hemoglobinopathy]<br /> |Structural abnormalities in the globin proteins <br /> |Multiple types of abnormal haemoglobins exist including Haemoglobin S, C E and D that alter the structure of these proteins. A common defect is sickle cell disease.&lt;ref&gt;Abboud, M.R. 2009, &quot;Hematopoietic Stem-Cell Transplantation for Adults with Sickle Cell Disease&quot;, New England Journal of Medicine, vol. 361, no. 24, pp. 2380-2381. &lt;/ref&gt;<br /> |Hemoglobinopathies are a genetic defect and therefore an inherited disorder, frequency depends on which particular hemoglobinopathy is being discussed, eg. in the case of Sickle cell disease, it is estimated that 7% of worlds population are carriers<br /> |[[File:Series_10-09.jpg|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease Tay Sachs Disease]<br /> |mutations on chromosome 15 in the HEXA gene <br /> |It is a rare autosomal recessive defect inherited from parents that are carriers for the disease. Affected individuals suffer from premature nerve cells death in the brain. &lt;ref&gt;&lt;pubmed&gt;20100466&lt;/pubmed&gt;&lt;/ref&gt;<br /> |Approx 1 in 300 are carriers<br /> |[[File:220px-Autorecessive.svg.png|right|200 px]]<br /> |-<br /> |}<br /> <br /> =Outcomes=<br /> <br /> Since CVS is able to detect a variety of chromosome abnormalities, there is a chance that the baby may be affected with a defect. If the test results are normal however, this does not exclude other congenital defects and neural tube defects that can occur that can be detected by other prenatal diagnosis methods. IF the test result is positive and a defect is detected by CVS, the mother has several options available. One is to terminate the pregnancy and the other is to seek treatment after the baby is born. If the mother chooses to terminate the pregnancy, doctors have a responsibility to educate the mother and offer counseling.<br /> <br /> Doctors should:<br /> <br /> *Give parents information about the defect so that they can be prepared.<br /> *Talk to parents about the baby's predicted quality of life.<br /> *Should explain any procedures that will be done to the baby after he is born.<br /> *Doctors should do their best to tell parents what the problem is and how serious it is.<br /> <br /> Abortion is the termination of pregnancy, with the removal of the fetus and placenta from the uterus. In Australia, abortion laws vary by state and usually allow this up to a range of about 12 - 20 weeks into the pregnancy, on the grounds of fetal abnormalities, endangerment of the mother and other socio-economic factors.&lt;ref&gt;Cica. N., 1998. Abortion Law in Australia. Parliament of Australia, Parliamentary Library. Accessed September 29. 2010. &lt;http://www.aph.gov.au/library/pubs/rp/1998-99/99rp01.htm&gt;&lt;/ref&gt; If the mother chooses to terminate the pregnancy, counselling is usually done to make sure the parents understand the issues and ethics surrounding abortion.<br /> There are currently two ways to perform an abortion:<br /> <br /> '''Surgical abortion -''' Also called suction aspiration, or suction currette, this is the most common procedure used for first trimester abortion(up to 12 weeks) The cervix is dilated, and a tube is inserted through the cervix and a suction removes the fetus and the placenta. A curette is then used to scrape the wall of the uterus to ensure any remains are not left inside. If later in pregnancy, other surgical techniques are used. <br /> <br /> '''Medical abortion -''' ''(Note: Not applicable in this case due to CVS being performed at 10-12 weeks.)''This involves administration of a drug called mifepristone (RU486). Available for abortions earlier than 2-9 weeks, it is a low-risk and effective method instead of the surgical method earlier in pregnancy. Usage of the drug is available in many countries but is currently restricted in Australia.<br /> <br /> ===Treatment===<br /> <br /> If the mother decides to continue on with the pregnancy, treatment options are necessary for the baby after birth to maintain the health and symptoms associated with a defect. Some of these management options for some of the defects will be discussed below. <br /> <br /> '''Down Syndrome'''<br /> <br /> Treatment and therapies for Down syndrome available include the physical, medical and cognitive problems associated with Down Syndrome. Medical treatment such as surgery or medications, while early intervention programs and therapies help babies and children achieve better quality of life. For example, children with Down Syndrome have a higher risk for having many conditions such as congenital heart defects, problems with the thyroid, muscles, joint, vision and hearing problems. Medications can be used to treat these different problems, such as if the thyroid is affected, a child will benefit from taking thyroid replacement hormones. Medications aim to control the symptoms and reduce the impact the condition will have on the baby. There is no medication that can cure chromosome abnormalities. Some individuals affected with cardiac and gastrointestinal problems may also need surgery soon after birth. Regular screening for vision problems, hearing, hypothyroidism, and other medical conditions should be performed.<br /> <br /> Cognitive development can be assisted with physiotherapy and speech therapy for example. Since children with Down Syndrome can have speech problems due to their relatively small mouths and large tongue, speech therapy can help the child to communicate properly. Physical therapy is often needed since individuals with Down Syndrome have hypotonia (low muscle tone)which needs to be improved by developing motor skills.<br /> <br /> '''Trisomy 13'''<br /> <br /> Since Trisomy 13 causes a range of serious complications like congenital heart disease and brain and spinal cord abnormalities, the survival rate is low, with a median survival time of 2.5 days. &lt;ref&gt;&lt;pubmed&gt;11310997&lt;/pubmed&gt;&lt;/ref&gt; Treatment is usually directed towards the specific symptoms that are present in the affected child, which differs to each individual. In some cases, treatment may include surgical procedures to correct cleft lip and palate, or surgery to correct heart defects. This will depend upon the severity and nature of the abnormalities and symptoms.&lt;Ref&gt;Stewart, K. B., 2007. Trisomy 13 - Patau Syndrome. [Fact sheet] Centre for Genetics Education. Accessed 29 September, 2010. &lt;http://www.genetics.com.au/pdf/factsheets/fs29.pdf&gt;&lt;/ref&gt;<br /> <br /> '''Cystic fibrosis'''<br /> <br /> There is currently no cure for cystic fibrosis, but various treatment methods can manage the symptoms of lung and digestive problems, liver and gallbladder diseases and infertility. Digestive problems can be corrected by having a diet that is low in fat and high in protein, with vitamin supplements. Regular antibiotics are prescribed to prevent and to treat lung infections, and mucolytics are needed to make the mucous less sticky. Other methods to dislodge and remove mucous is manual chest physiotherapy, where it consists of bronchial drainage done manually or mechanically. Manual drainage can be done by performing controlled breathing techniques or the chest is vibrated or clapped to dislodge the mucous out of the airways. &lt;ref&gt;&lt;pubmed&gt;18079549&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> '''Tay-sachs disease'''<br /> <br /> The prognosis for babies with the condition is usually poor, with children living to the age of 4-5.&lt;ref&gt;National Institute of Neurological Disorders and Stroke. 2007. Tay-Sachs Disease Information Page. Accessed September 29, 2010. &lt;http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm&gt;&lt;/ref&gt; Therefore treatment for Tay-sachs disease is usually to help alleviate symptoms associated with the disease. Spasticity and siezures can be helped by administering anticonvulsants, while other supportive methods include respiratory care to keep the airway open and proper nutrition and hydration.<br /> <br /> =Ethical concerns=<br /> <br /> =Current associated research=<br /> <br /> Chorionic Villus Sampling (CVS) is one of many prenatal diagnostic tools for expectant mothers, it is popular since it can be used to identify potential problems with a fetus at a very early stage. However, the procedure does carry some risks, as does any invasive diagnostic procedure. As chorionic villus sampling is a relatively new technique, made available for safe routine use only 20 years ago, the current associated research is mainly associated with risks associated with the procedure, and ways to overcome these risks. The next section in this page will discuss the current research on CVS and the risks involved in the procedure, and not what the test results may find. <br /> <br /> ====Hypertensive disorders of pregnancy====<br /> <br /> Hypertension, or high blood pressure, is a condition where systemic arterial blood presssure is elevated. Hypertension is one of the most common medical problem during pregnancy, affecting about 2-3% of pregnancies.&lt;ref&gt;Gibson, P., Carson, M.P, 2010. Hypertension and Pregnancy. Accessed 29 September, 2010. &lt;http://emedicine.medscape.com/article/261435-overview&gt;&lt;/ref&gt;<br /> Pregnancy induced hypertension is a condition that can occur during and after the 20th week of pregnancy. The types of hypertensive disorders can include:<br /> <br /> [[File:Enamel_Hypoplasia_Due_to_Maternal_Toxemia.jpg|thumb|200px|right|Enamel hypoplasia due to maternal toxemia]]<br /> <br /> *Pre-eclampsia or toxemia – Characterised as high blood pressure above 140/90 with proteinuria (protein in the urine that is above 300mg)<br /> * Eclampsia - Developed in a pregnant woman who has had pre-eclampsia and is characterised by seizures <br /> * Gestational hypertension – arterial hypertension that occurs after the 20th week of gestation <br /> <br /> If untreated, the condition may develop into HELLP syndrome which is a serious complication noted by hemolytic aneamia, elevated liver enzymes and a low platelet count. <br /> <br /> <br /> There has been conflicting evidence in literature that suggests that CVS is associated with hypertensive disorders in pregnancy such as pre-clampsia and gestational hypertension. In several studies, such as data from the National Institute of Health that compared late CVS procedures with early amniocentesis, showed a higher rite of gestational hypertension and preeclampsia in pregnant mothers.&lt;ref&gt;&lt;pubmed&gt;15738029&lt;/pubmed&gt;&lt;/ref&gt; (5.4% for mothers who had CVS and 3.5% that had amniocentesis.) It was hypothesized that disruption and disturbance of the placenta at 13-14 weeks may increase the risk of maternal hypertension. In addition, another recent study in 2006 also reported that there was an increase in the rate of pre-clampsia in first-time expectant mothers who have had CVS.&lt;ref&gt;&lt;pubmed&gt;19455602&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> However, in a very recent data investigation of among 9098 women that were pregnant between 1990 and 2006, the overall incidence of hypertensive disorders with women who have had CVS was 2.7% compared to the control group that did not have the procedure done which was 7.1%.&lt;ref&gt;&lt;pubmed&gt;19918960&lt;/pubmed&gt;&lt;/ref&gt; Similarly, in a study conducted by The American College of Obstetricians and Gynecologists,&lt;ref&gt;&lt;pubmed&gt;20664398&lt;/pubmed&gt;&lt;/ref&gt; 31, 138 women were that were included in the investigation showed that 2.2% developed preeclampsia and 2.8% developed gestation hypertension. Only 7.8% of those individuals had previously had CVS procedure performed. <br /> <br /> Although it can be said that some woman may develop hypertensive disorders during pregnancy that have also had the CVS procedure done in the past, there is no conclusive evidence so far that definitively associates CVS with hypertensive disorders such as pre-clampsia and gestation hypertension.<br /> <br /> ====Malformations====<br /> [[File:Craniosynostosis_.jpg|right|250 px]]<br /> <br /> <br /> Many malformations were thought to be a result of more invasive prenatal diagnostic techniques such as chorionic villus sampling. These malformations include, but are not limited to, cardiac malformations, hypospadias, craniosynostosis, pyloric stenosis, inguinal hernia, polydactyly, syndactyly, hydrocephalus and cleft lip and palate. Although these studies have now confirmed no known relationship with CVS, we will mention some below. &lt;ref&gt;&lt;pubmed&gt;7937577&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> '''Craniosynostosis''' is a condition where one of the sutures of the skull prematurely fuses, this causes the other sutures to compensate in growth for the fused suture. In normal development of the skull, the sutures allow for brain growth, so if one suture fuses prematurely, the brain can not grow normally, and the other sutures over expand in compensation. In the shown image, pictures a1 and a2 show the normal development and fusing of the infant skull. b2 shows how a suture is prematurely fused and b1 shows how the abnormality shows in an infant child.<br /> Craniosyntosis may result in increased pressure on the brain and developmental delays. Treatment of craniosynostosis usually consists of surgery to the skull where a zigzag incision is made to make the hair look more natural than the scar left by a straight incision. The surgery separates the sutures that have joined together to allow the head to develop normally.<br /> <br /> &lt;ref&gt;Silver, R.K., Macgregor, S.N., Muhlbach, L.H., Knutel, T.A. &amp; Kambich, M.P. 1994, &quot;Congenital malformations subsequent to chorionic villus sampling: Outcome analysis of 1048 consecutive procedures&quot;, Prenatal diagnosis, vol. 14, no. 6, pp. 421-427. &lt;/ref&gt;<br /> <br /> [[File:Polydactyly.jpg|left|200 px]]<br /> '''Polydactyly''' is a congenital condition where an extra digit is formed. Mostly it occurs on only one hand or foot, but sometimes can occur on all limbs. The extra digit is mostly a small non-function appendage of skin, less often it is an extension of the adjacent digit, and rarely it is a fully functioning finger that arises from the wrist or ankle joint like the other digits. Polydactyly can be described as: <br /> <br /> ● postaxial polydactyly (arising from the little finger)<br /> <br /> ● preaxial polydactyly (arising from the thumb) or<br /> <br /> ● central polydactyly (arising from anywhere between the other digits)<br /> <br /> Polydactyly is seen in 1 in every 500 births, but the extra digit is usually surgically removed shortly after birth<br /> &lt;ref&gt;&lt;pubmed&gt;20661588&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> [[File:Syndactyly2.JPG|left|200 px]]<br /> '''Syndactyly''' is also a congenital condition, but is seen when digits are fused together. Syndactyly can be described as:<br /> <br /> ● simple syndactyly (where only skin is fused to the adjacent finger)<br /> <br /> ● complex syndactyly (where the bone is fused together)<br /> <br /> ● incomplete syndactyly (where fusion is only part of the way up the digit), and,<br /> <br /> ● complete syndactyly (where fusion is to the tip of the digit)<br /> <br /> The picture on the left shows an example of polysyndactyly, where the digits are both fused, and there is an extra digit.<br /> &lt;ref&gt;&lt;pubmed&gt;20811188&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> <br /> <br /> <br /> <br /> ====Hemangiomas====<br /> <br /> [[File:Capillary_haemangioma.jpg|thumb|200px|right|Hemangioma]]<br /> <br /> A hemangioma is a benign tumour growth of endothelial cells that can occur in newborns and infants. Hemangiomas can occur anywhere in the body but are often localised on the skin of the face and neck, and are characterised by a red to reddish purple raised lesion on the skin, similarly to a &quot;strawberry&quot; like appearance. Its red appearance is due to the newly formed blood vessels, which result from the malformation of angioblastic tissues of fetal life.&lt;ref&gt;&lt;pubmed&gt;7063565&lt;/pubmed&gt;&lt;/ref&gt; <br /> Most hemangiomas do not cause any serious complications, and regress later on in life, where 90% of hemangiomas in children would disappear by the age of 9. <br /> <br /> Recently, research has linked the increase in the incidence of hemangiomas in infants following CVS. It has been postulated that the mechanism of hemangioma formation is associated with the embolisation of angioblasts or endothelial cells from the placenta to the fetal skin.&lt;ref&gt;&lt;pubmed&gt;19218861&lt;/pubmed&gt;&lt;/ref&gt; Although this may link hemangiomas to placental origin, it is unclear how, or whether CVS directly interferes or enhances the formation of these lesions. However, a recent study that compared the effects of CVS and amniocentesis on the prevalence of hemangiomas in infants showed that 27% of the study group had hemangiomas with CVS compared to 9.4% in children with hemangiomas and amniocentesis. &lt;ref&gt;&lt;pubmed&gt;20824891&lt;/pubmed&gt;&lt;/ref&gt; Furthermore, in an previous study conducted in 1995, there was a threefold increase in incidence after trancervical procedure was done, compared to amniocentesis.&lt;ref&gt;Lo, K., Mihm, M. &amp; Fay, A. 2009, &quot;Current Theories on the Pathogenesis of Infantile Hemangioma&quot;, Seminars in ophthalmology, vol. 24, no. 3, pp. 172-177. &lt;/ref&gt;&lt;ref&gt;&lt;pubmed&gt;7784377&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> =Future of Chorionic Villus Sampling and Prenatal diagnosis techniques=<br /> <br /> [[File:FISH_(technique).gif‎|thumb|250 px|FISH technique]]<br /> <br /> [[File:Comparative_Genomics.jpg|thumb|250 px|Comparative Genomics]]<br /> <br /> Prenatal diagnosis has been used to detect chromosomal abnormalities, especially Down’s syndrome, for over 30 years. As we have discussed on this page, the most common forms of prenatal diagnosis are amniocentesis, CVS and ultrasound. The type of test used depends on the history of the parents, any abnormalities detected in the initial ultrasound examination, and preferences of the parents. Testing for chromosomal abnormalities using amniocentesis and CVS is invasive and somewhat time consuming. Some recent advancements in this field include the use of fluorescence in situ hybridisation (FISH), quantitative fluorescence-PCR techniques, and comparative genomics. Although these techniques are currently still invasive, the waiting time for these tests is usually only 1 to 2 days for chromosomal abnormalities. &lt;ref&gt;&lt;pubmed&gt;20014413&lt;/pubmed&gt;&lt;/ref&gt; This waiting time would mean a much less stressful waiting period for the parents. The future of prenatal diagnosis certainly lies in the field of non invasive techniques, and research in the field of prenatal diagnosis is looking toward making detection of abnormalities non invasive, using the fetal cells from maternal circulation. &lt;ref&gt;&lt;pubmed&gt;20014413&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> '''Fluorescence in situ hybridisation (FISH):''' FISH is a cytogenetic technique, involving analysing the number and shape of the chromosomes of cells. FISH detects the addition or deletion of specific DNA sequences on chromosomes using florescent probes that bind to a similar sequence of chromosomes. Once the florescence probes are attached, fluorescence microscopy is used to view the chromosomes and detect the abnormality. In prenatal diagnosis, FISH is useful for detecting trisomy and monosomy conditions.[http://en.wikipedia.org/wiki/Fluorescent_in_situ_hybridization More about FISH]<br /> <br /> '''Quantitative fluorescence-PCR techniques:''' <br /> <br /> '''Comparative genomics:''' Comparative Genomics is a very new research field where the genome sequence of different organisms are compared. This comparison between organisms shows where a species genomes have been conserved (stabilising selection) and where differences occur (positive selection). Many species share the same genes, and comparative genomics can show what species share genes and which genes are different among species. This information can help us understand the function of different genes and identify and control diseases. The purpose is to gain a better understanding of how species have evolved and to determine the function of genes. In prenatal diagnosis, fetal cells can be viewed and compared against both parents genome, any change that deviates from the normal pattern due to too much or too little DNA can be seen, this deviation of the normal pattern means a certain chromosome has either been copied or deleted, causing disease. [http://www.ornl.gov/sci/techresources/Human_Genome/faq/compgen.shtml More about Comparative Genomics]<br /> <br /> =Useful links=<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Wikipedia'''[http://en.wikipedia.org/wiki/Chorionic_villus_sampling Chorionic villus sampling]<br /> <br /> '''Fact sheets''' [http://www.thewomens.org.au/ChorionicVillusSamplingCVS Chorionic villus sampling]<br /> <br /> '''Images''' [http://www.google.com.au/images?q=chorionic+villus+sampling&amp;oe=utf-8&amp;rls=org.mozilla:en-US:official&amp;client=firefox-a&amp;um=1&amp;ie=UTF-8&amp;source=univ&amp;ei=yCWcTKT-NsircY-nzNEJ&amp;sa=X&amp;oi=image_result_group&amp;ct=title&amp;resnum=4&amp;ved=0CD4QsAQwAw&amp;biw=1280&amp;bih=615 Chorionic villus sampling]<br /> <br /> '''You tube video of procedure''' [http://www.youtube.com/watch?v=0XUZsvTkEnw Chorionic villus sampling]<br /> <br /> =Glossary=<br /> <br /> '''Amniocentesis''' - A prenatal diagnostic test involving sampling of amniotic fluid by needle aspiration for genetic analysis.<br /> <br /> '''Amnion''' - An extraembryonic membrane ectoderm and extraembryonic mesoderm in origin and forms the innermost fetal membrane, produces amniotic fluid. This fluid-filled sac initially lies above the trilaminar embryo disc and with embryoic disc folding this sac is drawn ventrally to enclose (cover) the entire embryo, then fetus.<br /> <br /> '''Amniotic cavity''' - The fluid-filled (amniotic fluid) extraembryonic coelom (cavity) formed initially by epiblast and then ectoderm and surrounding extraembryonic mesoderm. In humans, it forms the innermost fetal membrane, produces amniotic fluid expanding to fuse with the chorionic membrane during week 8 of development.<br /> <br /> '''Amniotic fluid''' - The fluid that fills amniotic cavity totally encloses and cushions the embryo.<br /> <br /> '''Cannula''' - A flexible medical tube with a sharp-pointed part at one end that is inserted into a duct, vein, or cavity in order to drain away fluid or to administer drugs<br /> <br /> '''Chorion''' - The extraembryonic membrane generated from trophoblast and extraembryonic mesoderm that forms placenta. chorion and amnion are made by the somatopleure. The chorion becomes incorporated into placental development. The avian and reptilian chorion lies beside the egg shell and allows gas exchange.<br /> <br /> '''Chorionic villus sampling (CVS)''' - The taking a biopsy of the placenta, usually at the end of the second month of pregnancy, to test the fetus for genetic abnormalities.<br /> <br /> '''Chromosome''' - double stranded DNA coiled around histones. Condenses during mitosis and meiosis.<br /> <br /> '''Ectoderm''' - One of the initial 3 germ cell layers, which will form the nervous system from the neural tube and neural crest and also generates the entire epithelial layer of the skin covering the embryo.<br /> <br /> '''Endoscope''' - a long slender medical instrument for examining the interior of a bodily organ or performing minor surgery<br /> <br /> '''Endoderm''' - One of the initial 3 germ cell layers (ectoderm, mesoderm and endoderm) formed by the process of gastrulation. The endoderm forms as a cuboidal epithelium and contributes not only to the trilaminar embryo, but also lines the yolk sac. It will form the entire epithelial lining of the gastrointestinal tract (GIT), contribute to the accessory organs of GIT and also forms the epithelial lining of the respiratory tract.<br /> <br /> '''Fetus''' - In mammals, term describes the period of development following the embryonic period. In humans, the development week 9 to 36 is the fetal stage (second and third trimester). (see fetal period above). This term is also used non-scientifically to describe the human conceptus at both embryonic and fetal stages of development.<br /> <br /> '''Gene''' - A DNA sequence that is transcribed as a single unit and encodes a single polypeptide (protein) or a set of closely related polypeptides. There are approximately 20,000-25,000 protein encoding genes in the human genome. In each cell, DNA is found within the nucleus and also within mitochondria.<br /> <br /> '''Gestation''' - The period of time from conception to birth. A pregnancy with multiple fetuses is referred to as a multiple gestation.<br /> <br /> '''Mesoderm''' - The middle layer of the 3 germ cell layers of the trilaminar embryo.<br /> <br /> '''Miscarriage''' - A general clinical term for the loss of embryo or fetus by spontaneous abortion.<br /> <br /> '''Mitosis''' - The normal division of all cells, except germ cells, where chromosome number is maintained (diploid). <br /> <br /> '''Prenatal diagnosis''' - any of the diagnostic procedures used to determine whether a fetus has a genetic abnormality<br /> <br /> '''Tenaculum''' - instrument used to grasp the cervix and keep the uterus in place during gynecological procedures.<br /> <br /> '''Termination''' - The spontaneous or artificially induced expulsion of an embryo or fetus. As used in legal context, the term usually refers to induced abortion.<br /> <br /> '''Transabdominal''' - In the transabdominal CVS technique, the physician inserts a needle through the abdomen into the placenta. This is also done with ultrasound, to guide the physician<br /> <br /> '''Transcervical''' - In the transcervical CVS technique, the physician inserts a small tube through the cervix into the placenta. This is done while ultrasound guides the physician<br /> <br /> '''Ultrasound''' - A non-invasive technique for visualizing and prenatal diagnosis of several features of development including: follicles in the ovaries, the gestational sac, fetus in the uterus, fetal parameters, and the placenta. The technique uses high-frequency sound waves that are reflected off internal structures. These reflections can then be analysed and displayed by computer.<br /> <br /> '''Villi''' - Plural of villus, which is a thin projection from a surface. A term used to describe the many functional units together of the fetal placenta. <br /> <br /> '''Vitelline arteries and veins''' - The blood vessels which form in the extraembryonic mesoderm of the yolk sac and anastomose are called vitelline arteries (flow away from the embryo) and vitelline veins (flow toward the embryo).<br /> <br /> ==Prenatal Diagnosis Terms==<br /> <br /> '''false negative rate''' - The proportion of pregnancies that will test negative given that the congenital anomaly is present.<br /> <br /> '''false positive rate''' - The proportion of pregnancies that will test positive given that the congenital anomaly is absent.<br /> <br /> '''negative predictive value''' - The probability that a congenital anomaly is absent given that the prenatal screening test is negative.<br /> <br /> '''positive predictive value''' - The probability that a congenital anomaly is present given that the prenatal screening test is positive.<br /> <br /> '''pre-implantation genetic diagnosis''' - (PGD) a screening procedure for embryos produced through in vitro fertilisation (IVF) for genetic diseases that would generate developmental abnormalities or serious postnatal diseases.<br /> <br /> '''prenatal screening sensitivity''' - (detection rate) The probability of testing positive on a prenatal screening test if the congenital anomaly is present.<br /> <br /> '''prenatal screening specificity''' - The probability of testing negative on a prenatal screening test if the congenital anomaly is absent.<br /> <br /> <br /> ==Glossary Links==<br /> <br /> :[[A|A]] | [[B|B]] | [[C|C]] | [[D|D]] | [[E|E]] | [[F|F]] | [[G|G]] | [[H|H]] | [[I|I]] | [[J|J]] | [[K|K]] | [[L|L]] | [[M|M]] | [[N|N]] | [[O|O]] | [[P|P]] | [[Q|Q]] | [[R|R]] | [[S|S]] | [[T|T]] | [[U|U]] | [[V|V]] | [[W|W]] | [[X|X]] | [[Y|Y]] | [[Z|Z]] | [[Numbers|Numbers]]<br /> <br /> =References=<br /> &lt;references/&gt;<br /> <br /> == 2010 ANAT2341 Group Projects ==<br /> <br /> [[2010_Group_Project_1|Project 1 - Ultrasound]] | [[2010_Group_Project_2|Project 2 - Chorionic villus sampling]] | [[2010_Group_Project_3|Project 3 - Amniocentesis]] | [[2010_Group_Project_4|Group Project 4 - Percutaneous Umbilical Cord Blood Sampling]] | [[2010_Group_Project_5|Project 5 - Fetal Fibronectin]] | [[2010_Group_Project_6|Project 6 - Maternal serum alpha-fetoprotein]] | [[ANAT2341_2010_Students|Students Page]]<br /> <br /> <br /> {{Template:Footer}}<br /> [[Category:2010ANAT2341]] [[Category:Science-Undergraduate]]</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=2010_Group_Project_2&diff=39554 2010-10-06T03:23:22Z

<p>Z3265772: /* Future of Chorionic Villus Sampling and Prenatal diagnosis techniques */</p> <hr /> <div>[[File:Embryo_11-14_weeks.jpg|right|400 px]]<br /> <br /> ='''Chorionic Villus Sampling (CVS)'''=<br /> <br /> =Introduction=<br /> <br /> [[Image:Gray31.png|thumb|350px|right|Grays]]<br /> <br /> <br /> Chorionic villus sampling or CVS is a type of prenatal diagnosis test performed in the first trimester to detect major fetal abnormalities such as down syndrome, cystic fibrosis and tay-sachs disease, among many others. In the procedure, tissue is withdrawn from small finger like projections on the placenta called chorionic villi and tested for chromosomal defects. It is commonly performed between 10 and 12 weeks of pregnancy. <br /> The advantage of CVS over other procedures is that the result is available approx 6 weeks earlier in the pregnancy, so if a termination is needed, it can be done earlier which is much safer, rather than later in the pregnancy, which can carry more risks. &lt;ref&gt;Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., de, l.C., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Lubs, H.A., Mahoney, M.J., Pergament, E., Simpson, J.L., Carpenter, R.J., Elias, S., Ginsberg, N.A., Goldberg, J.D., Hobbins, J.C., Lynch, L., Shiono, P.H., Wapner, R.J. &amp; Zachary, J.M. 1989, &quot;The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities&quot;, New England Journal of Medicine, vol. 320, no. 10, pp. 609-617.&lt;/ref&gt;<br /> <br /> ''Reasons for getting chorionic villus sampling can include:''<br /> <br /> -History of genetic disorders in the family<br /> <br /> -Parents have already had a child with a disorder such as down syndrome or cystic fibrosis<br /> <br /> -Abnormal ultrasound result<br /> <br /> -Maternal age of 35 or older, which increases the risk of chromosomal defects such as down syndrome<br /> <br /> <br /> =Historic background=<br /> <br /> <br /> '''Brief timeline of CVS use'''<br /> <br /> *1968 - Mohr in Scandinavia introduced the concept of prenatal diagnosis using chorionic villi sampling &lt;ref&gt;&lt;pubmed&gt;5691288&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1973 - Kullander and Sandahl and Hahnemann in 1974 showed further study into chromosomal analysis from CVS &lt;ref&gt;&lt;pubmed&gt;4766093&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1975 - from the Department of Obstetrics and Gynaecology at the Tietung Hospital in Anshan, China was successful in using CVS to determine sex of fetuses for sex pre selection. &lt;ref&gt;&lt;pubmed&gt;811431&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1980 - Kazy et al. were the first to use ultrasound guidance during chorionic villi sampling. &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1981 - Niazi et al. improved methods for culturing of fibroblasts from trophoblast villi. &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1983 - Ward performed transcervical CVS with 67% success rate. In the same year, the Brombati group demonstrated and 96% success rate with obtaining villi with the aid of ultrasound guidance &lt;ref&gt;&lt;pubmed&gt;6463023&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1984 - Smidt-Jensen and Hahnemann introduced transabdominal CVS under ultrasound guidance &lt;ref&gt;&lt;pubmed&gt;4088973&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1986 - The Golbus group had a 3.8% miscarriage rate, and subsequently many other clinics started reporting a much lower rate of miscarriage at 1.7% making the procedure safe for routine use &lt;ref&gt;&lt;pubmed&gt;3717235&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> ===Jan Mohr (1921-2009)===<br /> [[Image:Jan_Mohr.jpg|thumb|200px|left|Jan Mohr]]<br /> <br /> <br /> '''1968 -- Concept of CVS introduced'''<br /> <br /> In 1968 Jan Mohr introduced the concept of prenatal diagnosis using the CVS technique. &lt;ref&gt;&lt;pubmed&gt;5691288&lt;/pubmed&gt;&lt;/ref&gt; He used the transcervical method to get a biopsy of the chorion using an endoscope as the source of vision. The current technique differs by using mostly transabdominal access with ultrasound instead of an endoscope. He reported a 96% success rate in obtaining chorionic material but with a high incidence of bleeding and infection. The approach was abandoned as amniocentesis became more popular due to higher safety levels<br /> <br /> <br /> <br /> '''1973-1975 -- Further study into chromosomal analysis from CVS'''<br /> <br /> Kullander and Sandahl in 1973 and Hahnemann in 1974 further researched fetal chromosome analysis using transcervical biopsy before termination in early pregnancies. &lt;ref&gt;&lt;pubmed&gt;4766093&lt;/pubmed&gt;&lt;/ref&gt; In 1975 the first successful diagnostic use of chorionic villi was reported at the Tietung Hospital in China. &lt;ref&gt;&lt;pubmed&gt;811431&lt;/pubmed&gt;&lt;/ref&gt; This is where fetal sex was diagnosed for the purpose of sex pre-selection. They claimed to have 94% diagnosis success and only 4% miscarriage rate. Researchers in the United States were, however unable to duplicate the results and so the idea of CVS diagnosis was again abandoned for some time.<br /> <br /> <br /> '''1980-1983 -- Change from endoscopic examination to ultrasound to guide CVS'''<br /> <br /> With the invention of the ultrasound and advancement in molecular genetics, an earlier prenatal diagnosis was now sought after. So Kazy et al. in 1980, began using both the endoscope and the ultrasound for fetal sexing on chorion biopsies. This was the first report of using ultrasound guidance during chorion sampling. After Kazy et.al. began using the ultrasound for guidance, many others followed. Niazi et al., Ward and the Brombati group all started using ultrasound guided CVS. Techniques quickly improved and success rate of obtaining chorionic material rose from 75% to 96% &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> '''1984-1986 -- The introduction of transabdominal CVS'''<br /> <br /> In 1984, Smidt-Jensen and Hahnemann in Copenhagen introduced transabdominal CVS using ultrasound guidance. &lt;ref&gt;&lt;pubmed&gt;6463023&lt;/pubmed&gt;&lt;/ref&gt; With less chance of infective complications the procedure has become more popular than the transcervical method in many prenatal diagnostic centers. Other ultrasonic techniques and modifications were explored by the Brambati and Simoni group and the Golbus group in 1985. &lt;ref&gt;&lt;pubmed&gt;4088973&lt;/pubmed&gt;&lt;/ref&gt; The Golbus group reported in 1986 a miscarriage rate of 3.8%. &lt;ref&gt;&lt;pubmed&gt;3717235&lt;/pubmed&gt;&lt;/ref&gt; Subsequently, many other centres reported a much lower miscarriage rate of 1.5% which made the procedure safe for routine use.<br /> <br /> ==Table Comparing Prenatal Diagnosis Techniques==<br /> <br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ This table shows invasiveness and timeframe for some prenatal diagnostic techniques<br /> ! Invasiveness !! Diagnostic technique !! Comments !! Time that procedure can be performed !! Diagram<br /> |-<br /> |Non Invasive<br /> |[[2010_Group_Project_1|Ultrasound]]<br /> |'''Tests for:''' neural tube defects, chromosomal abnormalities and congenital heart abnormalities<br /> <br /> '''Risks:''' No risks currently indicated for ultrasound use in prenatal diagnosis. <br /> <br /> This test uses high frequency sound waves through a transmitting device, which construct a picture of the fetus when the waves are reflected and received back by the transmitter. Due to no known risks, ultrasound use is used routinely in pregnancies and is the first port of call for prenatal diagnosis. If a potential abnormality is found or the parents are high risk, then a more invasive diagnostic technique may be recommended. The type of diagnostic technique used depends on the potential abnormality found. &lt;ref&gt;Kremkali, F.W. (2006) Diagnostic Ultrasound Principles and Instruments (7th ed.) St Louis: Saunders Elsevier. pp3-5&lt;/ref&gt;[[2010_Group_Project_1|More about Ultrasound]]<br /> |Weeks 18-20<br /> |[[File:ZConvex_Array_Transducer.jpg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> |'''Tests for:''' chromosomal abnormalities and genetic abnormalities <br /> <br /> '''Risks:''' Miscarriage (1%), some of the side effects include dizziness, abdominal discomfort, cramping, haemorrhage, infection, ruptured amniotic sac, increased risk of limb defects if the test was performed at nine weeks’ gestation or earlier &lt;ref&gt;Alfirevic, Z., K. Sundberg, et al. 2008. &quot;Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review).&quot; Cochrane Database of Systematic Reviews 4: 1-134.&lt;/ref&gt;<br /> <br /> With the guidance of Ultrasound, a needle is inserted in to the abdomen or through the cervix and a small sample of chorionic villi from the placenta are obtained. This sample is sent to a cytogenetics laboratory where the cells are cultured and stained, and photographed to view chromosomes <br /> |Weeks 10-12<br /> |[[File:Transabdominal_CVS.jpg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_3|Amniocentesis ]] <br /> |'''Tests for:''' chromosomal abnormalities, fetal infections, and genetic abnormalities<br /> <br /> '''Risks:''' Miscarriage &lt;1%, stillbirths 3%, and small risk of infection. &lt;ref&gt;&lt;pubmed&gt;PMC2464303&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> A needle is inserted in to the uterus where a sample of the amniotic fluid surrounding the fetus is taken. This procedure is usually done with the guidance of ultrasound so the physician can see where the needle is being inserted. The amniotic fluid is analysed for abnormalities. [[2010_Group_Project_3|More about Amniocentesis ]]<br /> |Weeks 15-16<br /> |[[File:Process_of_amniocentesis.jpeg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_4|Percutaneous Umbilical Cord Blood Sampling]]<br /> |'''Tests for:'''chromosomal abnormalities, blood disorders, some metabolic disorders, fetal infections, and some causes of structural problems.<br /> <br /> '''Risks:'''Miscarriage &lt;2%, Preterm labour, fetal bradycardia, bleeding of the umbilical cord. &lt;ref&gt;&lt;pubmed&gt;16530195&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> A small needle is inserted in to the abdomen of the mother and a sample of blood is taken from the umbilical vein in the umbilical cord. This technique is often used when other diagnostic techniques are inconclusive, but should be used with caution as carries higher risk rates. The benefit of Percutaneous Umbilical Cord Blood Sampling is that the results are available much faster, within 72 hours of testing. CVS and amniocentesis tests need culturing and therefore take up to 11 days for a result. [[2010_Group_Project_4|More about Percutaneous Umbilical Cord Blood Sampling]]<br /> |Weeks 18-22<br /> |[[File:Placenta_Anterior.jpg|right|150 px]]<br /> |-<br /> |Less Invasive<br /> |[[2010_Group_Project_5|Fetal Fibronectin]]<br /> |'''Tests for:'''determines the likelihood of premature birth in women of high risk<br /> <br /> '''Risks:'''No known risks for the testing of Fetal Fibronectin, as is it less invasive than other techniques.<br /> <br /> Fetal Fibronectin is only found in the uterus until the onset of labour when is secretes in through the cervix. In this procedure, a sample of the cervico-vaginal secretions are taken and sent to the lab for testing. If the test comes out positive for Fetal Fibronectin in the vagina, the mother has a chance of going into premature labour. [[2010_Group_Project_5|More about Fetal Fibronectin]]<br /> |Weeks 24-34<br /> |[[File:FetalFN.jpg|right|150 px]]<br /> |-<br /> |Non Invasive<br /> |[[2010_Group_Project_6|Maternal serum alpha-fetoprotein]]<br /> |'''Tests for:'''AFP is a type of screening test and do not diagnose problems, but signal whether further testing is needed. Normal AFP levels are increased in Neural Tube Defects and Omphalocoele &amp; decreased in Down Syndrome.<br /> <br /> '''Risks:'''No known risks as Maternal serum alpha-fetoprotein is non invasive<br /> <br /> A blood sample is taken from the mother and alpha-fetoprotein levels are measured in the lab. These measurements can determine the risk level of certain abnormalities in the fetus. The advantage is that it is non invasive, but the disadvantage is that it has a very high false positive rate, so many mothers have gone on to have amniocentesis or chorionic villus sampling to find nothing is wrong with the baby. This can be overcome by having another alpha-fetoprotein test before getting amniocentesis or chorionic villus sampling. [[2010_Group_Project_6|More about Maternal serum alpha-fetoprotein]]<br /> |Weeks 15-20<br /> |[[File:Enzyme_immunoassay.jpg|right|150 px]]<br /> |-<br /> |}<br /> <br /> =Description of technique=<br /> [[File:Gray37.png|right|thumb|280px|Sample is taken from the chorionic villi]]<br /> [[File:transabdominal_CVS.jpg|right|thumb|280px|Transabdominal Technique]]<br /> [[File:transcervicalCVS.jpg|right|thumb|280px|Transcervical Technique]]<br /> <br /> The CVS procedure involves taking a sample of the chorion frondosum — the part of the chorionic membrane containing the villi. Between 10-12 weeks of pregnancy, the developing gestational sac is composed of a thick, outer chorionic membrane surrounding the amniotic cavity, a thin amniotic membrane and the chorionic cavity. The chorionic villi have now degenerated over most of the outer membrane, forming the chorion laeve, and the remaining villi fuses and embeds loosely into the decidua basalis. This forms the chorion frondosum, which will ultimately become the placenta. At this stage, the villi float freely in the blood of the intervillus space. Each villi is branched, and is composed of an outer syncytiotrophoblast and an inner cytotrophoblast layer. Within the centre of each villus is a mesenchymal core which contain capillaries carrying fetal blood. In CVS, usually samples of both cells lines (cytotrophoblasts and mesenchymal cells) are obtained. Chromosomal analysis of these cell lines can be performed by means of direct preparations, short-term cultures (cytotrophoblasts), or long-term cultures (mesenchymal cells) of the chorionic villi.&lt;ref&gt;Jenkins, T.M, Wapner, R.J, 1999. First trimester prenatal diagnosis: Chorionic villus sampling. Seminars in Perinatology. pp403-413.&lt;/ref&gt; <br /> <br /> CVS can be performed in two ways, through the cervix (transcervical) or through the abdomen (transabdominal). Both techniques are equally safe when performed by an experienced technician, however miscarriage rates are somewhat higher when done through the cervix. Prior to the procedure, an abdominal ultrasound can be performed to locate the position of the uterus, and the placenta. A full bladder is not required. Depending on the type of method performed, the vulva, vagina, cervix or abdomen are cleaned with antiseptic. The procedure normally takes only 1-2 minutes to perform and the patient is able to leave the clinic within the hour after the fetus is checked.&lt;ref&gt;Melbourne Ultrasound for Women. Chorionic Villus Sampling. Accessed 5 September 2010. http://www.nevdgp.org.au/info/melb_us/cvs_melb.htm&lt;/ref&gt; <br /> <br /> ===Transabdominal Procedure===<br /> <br /> # A local anaesthetic is first applied to the abdomen.&lt;br&gt;<br /> # A thin hollow needle is then inserted through the abdomen into the uterus and into the edge of the placenta where the chorion is located. An ultrasound transducer is commonly used to guide the needle during the procedure. &lt;br&gt;<br /> # A finer syringe needle is then passed through the outer needle, and the tissue is then drawn.&lt;br&gt;<br /> # The sample is taken to the laboratory for testing. <br /> <br /> ===Transcervical Procedure===<br /> # A speculum is inserted in the vagina and the area is cleaned with antiseptic.&lt;br&gt;<br /> # With the help of ultrasound imaging, a thin cannula is then inserted through the cervix and uterus and into the placenta.&lt;br&gt;<br /> #The tissue sample is then taken up through the cannula.&lt;br&gt;<br /> &lt;ref&gt;&lt;pubmed&gt;20154617&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> After the sample is taken to the laboratory, the cells are grown until there are enough cells for chromosome testing. The results normally take up to 2 weeks to complete.<br /> <br /> ===Complications===<br /> <br /> Some of the side effects and complications after a CVS procedure can include:<br /> <br /> * Dizziness <br /> * Abdominal discomfort<br /> * Cramping<br /> * Haemorrhage<br /> * Infection<br /> * Ruptured amniotic sac<br /> * Increased risk of limb defects if the test was performed at nine weeks’ gestation or earlier<br /> * Premature delivery<br /> &lt;ref&gt;Alfirevic, Z., K. Sundberg, et al. 2008. &quot;Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review).&quot; Cochrane Database of Systematic Reviews 4: 1-134.&lt;/ref&gt;<br /> <br /> Additional complications can involve technical errors such as failure of the specimen to grow sufficiently in the laboratory and uncertain laboratory results. If this occurs, amniocentesis is still an option after 15 weeks.<br /> <br /> ===Results and Accuracy===<br /> <br /> The accuracy of CVS to detect chromosome abnormalities is quite high, at around 98-99% &lt;ref&gt;Hall, Judith G. &quot;Chromosomal Clinical Abnormalities.&quot; In Nelson Textbook of Pediatrics. Edited by Richard E. Behrman et al. Philadelphia: Saunders, 2004.&lt;/ref&gt;. Although it has a high accuracy rate to diagnose most major chromosomal problems, CVS does have some limitations. Having a negative result for an abnormality does not rule out ALL genetic defects the baby may have. Comparatively to amniocentesis, CVS does NOT detect neural tube defects such as spina bifida, or anencephaly. <br /> The type of chromosome abnormalities detected by CVS will be further discussed in detail below.<br /> <br /> ===Limitations===<br /> [[file:Double_tetrasomy_18_mosaicism.jpg‎|thumb|250 px|Example of a child with double tetrasomy 18+ mosaicism.]]<br /> <br /> '''Maternal contamination'''<br /> <br /> Since the villus sample also involves maternal cells, there is a possibility that they may take over the laboratory culture instead, consequently leading to the mother's cells being tested instead of the fetus's cells. The risk of this happening is low however and is decreased when the sample contains an adequate amount of fetal cells.<br /> <br /> <br /> '''Mosaicism'''<br /> <br /> &quot;Mosaicism&quot; occurs when both abnormal and normal cells are found in the chorionic villi. Mosaicism can involve both the fetus (true fetal mosaicism) and the placental tissues or the placental tissues alone. When this happens, cells that multiply from these abnormal cells may develop a chromosome anomaly.<br /> What can result is that in certain body organs the fetus has a combination of cells that are abnormal and normal in genetic structure. <br /> The rate of the placental type occuring is found in 1-2% of pregnancies detected by CVS.&lt;ref&gt;&lt;pubmed&gt;9316125&lt;/pubmed&gt;&lt;/ref&gt; When mosaicism is detected by CVS, the limitation lies in the inability to conclude that the baby itself and not just the placental tissues will share the mosaicism. Even if the baby is affected, it will be unclear as to what percentage of the fetal cells and the type of organs that will be affected.&lt;ref&gt;Trofatter. K.F. 2008. Chromosomal Mosaicism Detected at the Time of Chorionic Villus Sampling. Accessed on 15 September 2010. http://www.healthline.com/blogs/pregnancy_childbirth/2008/03/chromosomal-mosaicism-detected-at-time.html&lt;/ref&gt;<br /> <br /> =Risks=<br /> <br /> <br /> When Chorionic Villus Sampling is performed, a small sample of the placenta is removed for analysis. The placenta contains fetal material, therefore can reveal genetic defects which may lead to problems or abnormalities. &lt;ref&gt;&lt;pubmed&gt;20664398&lt;/pubmed&gt;&lt;/ref&gt; This prenatal test can be performed as early as 11 weeks into the pregnancy, this is earlier than many prenatal diagnosis tests, which is why many parents choose CVS as they can have solid information earlier in the pregnancy. Some common risks which are not under current research include: Cramping, light blood spotting, pain, fever and chills, leakage (which can be a major concern as it can lower amniotic fluid to a dangerous level for the infant), and potential for missing fingers and toes in the newborn. For this reason, the procedure is only recommended for women who are at least 11 weeks pregnant. &lt;ref&gt;&lt;pubmed&gt;20051662&lt;/pubmed&gt;&lt;/ref&gt; The other major risks that are currently being researched are outlined below<br /> <br /> ====Transabdominal vs Transcervical CVS. Comparison of risks====<br /> <br /> <br /> [[File:CVS_Table.jpg|left|thumb|280px|Transabdominal vs Transcervical risks]]<br /> <br /> This table shows the symptoms of women approximately 3 days after sampling. The table shows women who had undergone transcervical sampling had higher frequencies of fluid leakage, vaginal spotting, and bleeding. When a tenaculum is not used, the frequency of vaginal spotting and bleeding persisted in the transcervical-sampling group. Only two women, both in the transcervical-sampling group, had a temperature above 38°C. &lt;ref&gt;Jackson, L.G., Zachary, J.M., Fowler, S.E., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Mahoney, M.J., Pergament, E., Simpson, J.L., Black, S. &amp; Wapner, R.J. 1992, &quot;A Randomized Comparison of Transcervical and Transabdominal Chorionic-Villus Sampling&quot;, New England Journal of Medicine, vol. 327, no. 9, pp. 594-598.&lt;/ref&gt;<br /> <br /> <br /> ====Miscarriage====<br /> <br /> One of the biggest risks of Chorionic Villus Sampling is miscarriage. In one to 100 or 200 cases, the procedure is linked with miscarriage. &lt;ref&gt;&lt;pubmed&gt;19155918&lt;/pubmed&gt;&lt;/ref&gt; In an experienced clinic, this rate may go down to one in 300 to 400. To lower the risk of miscarriage with Chorionic Villus Sampling, it is recommended the procedure be performed by an experienced clinician<br /> <br /> <br /> ====Oligohydramnios====<br /> <br /> Oligohydramnios is a condition due to low amniotic fluid level, which is caused by amniotic fluid leakage. Amniotic fluid leakage is typically caused by fetal urinary tract abnormalities such as Potter's syndrome, polycystic kidneys, or genitourinary obstruction. But leakage can sometimes be caused by sampling of the chorionic villi due to insertion of the needle. If the resulting oligohydramnios is not treated and the amniotic fluid continues to leak it can result in the baby developing hypoplastic lungs (underdeveloped lungs). &lt;ref&gt;&lt;pubmed&gt;17694578&lt;/pubmed&gt;&lt;/ref&gt;&lt;br&gt;&lt;br&gt;<br /> <br /> <br /> '''Why would you use CVS over other techniques?'''<br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ Advantages and Disadvantages of Chorionic Villus Sampling<br /> ! Advantages !! Disadvantages <br /> |-<br /> |Can be performed earlier in pregnancy than amniocentesis (at around ten weeks).<br /> <br /> Results are available faster<br /> <br /> Cells obtained are mitotically active<br /> <br /> Amount of tissue obtained is preferable for DNA analysis.<br /> <br /> It is almost 100% reliable in detecting chromosomal and genetic defects.<br /> |It carries a slightly higher risk of miscarriage (1%-2%) than does amniocentesis<br /> <br /> It's less commonly available than amniocentesis, and fewer doctors are experienced in the procedure.<br /> <br /> It entails a greater risk of distorted results than does amniocentesis due to presence of mother's cells in the sample and discrepancies between chorionic villi and fetal genes.<br /> <br /> Metabolic disorders are difficult to diagnose and must be confirmed with amniocentesis.<br /> <br /> Because of the early gestational age at which the test is performed, fetal anatomy cannot be seen as well as it can at the time amniocentesis is performed.<br /> |-<br /> |}<br /> &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt;<br /> <br /> =Abnormalities found by CVS prenatal diagnostic technique=<br /> <br /> [[File:Down-normal.gif|right|thumb|280px|Normal]]<br /> <br /> [[File:Down-extra.gif|right|thumb|280px|third copy of chromosome 21]]<br /> <br /> The cells collected by CVS are sent to a cytogenetics laboratory. There the cells are cultured (stimulated to grow and divide) for 10-14 days. After enough cells are obtained, a banded karyotype is performed. This means that the fetal chromosomes in the cultured cells are stained and subsequently photographed. The photographed chromosomes are then ordered by number, counted and checked for structural abnormalities. There should be 46 chromosomes, 23 pairs. A boy's karyotype is described as 46,XY and a girl's karyotype is described as 46,XX.&lt;ref&gt;Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., de, l.C., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Lubs, H.A., Mahoney, M.J., Pergament, E., Simpson, J.L., Carpenter, R.J., Elias, S., Ginsberg, N.A., Goldberg, J.D., Hobbins, J.C., Lynch, L., Shiono, P.H., Wapner, R.J. &amp; Zachary, J.M. 1989, &quot;The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities&quot;, New England Journal of Medicine, vol. 320, no. 10, pp. 609-617. &lt;/ref&gt;<br /> <br /> <br /> <br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ This table shows what disorders CVS detects, the cause, frequency and any comments<br /> ! Disorder !! Cause !! Comments !! Frequency !! Picture <br /> |-<br /> |[[ Trisomy 21 | Down Syndrome ]]<br /> |A third copy of chromosome 21<br /> <br /> Normally, there are only two copies of this chromosome<br /> |The average IQ of children with Down syndrome is around 50, compared to normal children with an IQ of 100. Complications for people with down syndrome include: congenital heart defects, gastroesophageal reflux disease, recurrent ear infections, obstructive sleep apnea, and thyroid dysfunctions. &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt; The picture shows a newborn infant with Down Syndrome (Trisome 21)<br /> |Approximately 1 in 1,000 births &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt;<br /> |[[File:Trisomy_21_newborn.jpg|right|200 px]]<br /> |-<br /> |[[ Trisomy 13 | Trisomy 13 ]]<br /> |A third copy of chromosome 13<br /> <br /> Normally, there are only two copies of this chromosome<br /> |Also called Patau syndrome. This abnormality causes mental and motor abnormalities, polydactyly (extra digits), kidney defects, abnormal genitalia and heart defects, among many others. &lt;ref&gt;Driscoll, D.A. &amp; Gross, S. 2009, &quot;Prenatal Screening for Aneuploidy&quot;, New England Journal of Medicine, vol. 360, no. 24, pp. 2556-2562. &lt;/ref&gt; The picture shows an infant with polydactyly, a potential complication of Trisome 13<br /> |Less than 1% <br /> |[[File:220px-Patauhand.PNG|right|200 px]]<br /> |-<br /> |[[ Trisomy 18 | Trisomy 18 ]]<br /> |A third copy of chromosome 18<br /> <br /> Normally, there are only two copies of this chromosome<br /> |Also known as Edwards syndrome. It has a very low survival rate, due to: kidney and heart defects, intestines protruding outside the body, mental abnormalities, growth disorders, feeding and breathing difficulties. &lt;ref&gt;Driscoll, D.A. &amp; Gross, S. 2009, &quot;Prenatal Screening for Aneuploidy&quot;, New England Journal of Medicine, vol. 360, no. 24, pp. 2556-2562. &lt;/ref&gt; The picture shows a clenched hand and overlapping fingers: index finger overlaps third finger and fifth finger overlaps fourth finger, characteristically seen in Trisomy 18.<br /> |1 in 3,000 conceptions and approximately 1 in 6,000 live births <br /> |[[File:200px-Overlapping_fingers.JPG|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Cystic_fibrosis Cystic Fibrosis]<br /> |A mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR) in chromosome 7.<br /> |An autosomal recessive disease that causes excessive sticky mucous to form on mucosal surfaces effecting the digestive and respiratory organs. &lt;ref&gt;Levison, J.H., Barbieri, R.L., Katz, J.T. &amp; Loscalzo, J. 2010, &quot;Hard to Conceive&quot;, New England Journal of Medicine, vol. 363, no. 10, pp. 965-970. &lt;/ref&gt; The picture shows clubbing of the fingers in a person with cystic fibrosis<br /> |Approx 1 in 3,000 <br /> |[[File:220px-ClubbingCF.JPG|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Hemoglobinopathy Hemoglobinopathy]<br /> |Structural abnormalities in the globin proteins <br /> |Multiple types of abnormal haemoglobins exist including Haemoglobin S, C E and D that alter the structure of these proteins. A common defect is sickle cell disease.&lt;ref&gt;Abboud, M.R. 2009, &quot;Hematopoietic Stem-Cell Transplantation for Adults with Sickle Cell Disease&quot;, New England Journal of Medicine, vol. 361, no. 24, pp. 2380-2381. &lt;/ref&gt;<br /> |Hemoglobinopathies are a genetic defect and therefore an inherited disorder, frequency depends on which particular hemoglobinopathy is being discussed, eg. in the case of Sickle cell disease, it is estimated that 7% of worlds population are carriers<br /> |[[File:Series_10-09.jpg|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease Tay Sachs Disease]<br /> |mutations on chromosome 15 in the HEXA gene <br /> |It is a rare autosomal recessive defect inherited from parents that are carriers for the disease. Affected individuals suffer from premature nerve cells death in the brain. &lt;ref&gt;&lt;pubmed&gt;20100466&lt;/pubmed&gt;&lt;/ref&gt;<br /> |Approx 1 in 300 are carriers<br /> |[[File:220px-Autorecessive.svg.png|right|200 px]]<br /> |-<br /> |}<br /> <br /> =Outcomes=<br /> <br /> Since CVS is able to detect a variety of chromosome abnormalities, there is a chance that the baby may be affected with a defect. If the test results are normal however, this does not exclude other congenital defects and neural tube defects that can occur that can be detected by other prenatal diagnosis methods. IF the test result is positive and a defect is detected by CVS, the mother has several options available. One is to terminate the pregnancy and the other is to seek treatment after the baby is born. If the mother chooses to terminate the pregnancy, doctors have a responsibility to educate the mother and offer counseling.<br /> <br /> Doctors should:<br /> <br /> *Give parents information about the defect so that they can be prepared.<br /> *Talk to parents about the baby's predicted quality of life.<br /> *Should explain any procedures that will be done to the baby after he is born.<br /> *Doctors should do their best to tell parents what the problem is and how serious it is.<br /> <br /> Abortion is the termination of pregnancy, with the removal of the fetus and placenta from the uterus. In Australia, abortion laws vary by state and usually allow this up to a range of about 12 - 20 weeks into the pregnancy, on the grounds of fetal abnormalities, endangerment of the mother and other socio-economic factors.&lt;ref&gt;Cica. N., 1998. Abortion Law in Australia. Parliament of Australia, Parliamentary Library. Accessed September 29. 2010. &lt;http://www.aph.gov.au/library/pubs/rp/1998-99/99rp01.htm&gt;&lt;/ref&gt; If the mother chooses to terminate the pregnancy, counselling is usually done to make sure the parents understand the issues and ethics surrounding abortion.<br /> There are currently two ways to perform an abortion:<br /> <br /> '''Surgical abortion -''' Also called suction aspiration, or suction currette, this is the most common procedure used for first trimester abortion(up to 12 weeks) The cervix is dilated, and a tube is inserted through the cervix and a suction removes the fetus and the placenta. A curette is then used to scrape the wall of the uterus to ensure any remains are not left inside. If later in pregnancy, other surgical techniques are used. <br /> <br /> '''Medical abortion -''' ''(Note: Not applicable in this case due to CVS being performed at 10-12 weeks.)''This involves administration of a drug called mifepristone (RU486). Available for abortions earlier than 2-9 weeks, it is a low-risk and effective method instead of the surgical method earlier in pregnancy. Usage of the drug is available in many countries but is currently restricted in Australia.<br /> <br /> ===Treatment===<br /> <br /> If the mother decides to continue on with the pregnancy, treatment options are necessary for the baby after birth to maintain the health and symptoms associated with a defect. Some of these management options for some of the defects will be discussed below. <br /> <br /> '''Down Syndrome'''<br /> <br /> Treatment and therapies for Down syndrome available include the physical, medical and cognitive problems associated with Down Syndrome. Medical treatment such as surgery or medications, while early intervention programs and therapies help babies and children achieve better quality of life. For example, children with Down Syndrome have a higher risk for having many conditions such as congenital heart defects, problems with the thyroid, muscles, joint, vision and hearing problems. Medications can be used to treat these different problems, such as if the thyroid is affected, a child will benefit from taking thyroid replacement hormones. Medications aim to control the symptoms and reduce the impact the condition will have on the baby. There is no medication that can cure chromosome abnormalities. Some individuals affected with cardiac and gastrointestinal problems may also need surgery soon after birth. Regular screening for vision problems, hearing, hypothyroidism, and other medical conditions should be performed.<br /> <br /> Cognitive development can be assisted with physiotherapy and speech therapy for example. Since children with Down Syndrome can have speech problems due to their relatively small mouths and large tongue, speech therapy can help the child to communicate properly. Physical therapy is often needed since individuals with Down Syndrome have hypotonia (low muscle tone)which needs to be improved by developing motor skills.<br /> <br /> '''Trisomy 13'''<br /> <br /> Since Trisomy 13 causes a range of serious complications like congenital heart disease and brain and spinal cord abnormalities, the survival rate is low, with a median survival time of 2.5 days. &lt;ref&gt;&lt;pubmed&gt;11310997&lt;/pubmed&gt;&lt;/ref&gt; Treatment is usually directed towards the specific symptoms that are present in the affected child, which differs to each individual. In some cases, treatment may include surgical procedures to correct cleft lip and palate, or surgery to correct heart defects. This will depend upon the severity and nature of the abnormalities and symptoms.&lt;Ref&gt;Stewart, K. B., 2007. Trisomy 13 - Patau Syndrome. [Fact sheet] Centre for Genetics Education. Accessed 29 September, 2010. &lt;http://www.genetics.com.au/pdf/factsheets/fs29.pdf&gt;&lt;/ref&gt;<br /> <br /> '''Cystic fibrosis'''<br /> <br /> There is currently no cure for cystic fibrosis, but various treatment methods can manage the symptoms of lung and digestive problems, liver and gallbladder diseases and infertility. Digestive problems can be corrected by having a diet that is low in fat and high in protein, with vitamin supplements. Regular antibiotics are prescribed to prevent and to treat lung infections, and mucolytics are needed to make the mucous less sticky. Other methods to dislodge and remove mucous is manual chest physiotherapy, where it consists of bronchial drainage done manually or mechanically. Manual drainage can be done by performing controlled breathing techniques or the chest is vibrated or clapped to dislodge the mucous out of the airways. &lt;ref&gt;&lt;pubmed&gt;18079549&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> '''Tay-sachs disease'''<br /> <br /> The prognosis for babies with the condition is usually poor, with children living to the age of 4-5.&lt;ref&gt;National Institute of Neurological Disorders and Stroke. 2007. Tay-Sachs Disease Information Page. Accessed September 29, 2010. &lt;http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm&gt;&lt;/ref&gt; Therefore treatment for Tay-sachs disease is usually to help alleviate symptoms associated with the disease. Spasticity and siezures can be helped by administering anticonvulsants, while other supportive methods include respiratory care to keep the airway open and proper nutrition and hydration.<br /> <br /> =Ethical concerns=<br /> <br /> =Current associated research=<br /> <br /> Chorionic Villus Sampling (CVS) is one of many prenatal diagnostic tools for expectant mothers, it is popular since it can be used to identify potential problems with a fetus at a very early stage. However, the procedure does carry some risks, as does any invasive diagnostic procedure. As chorionic villus sampling is a relatively new technique, made available for safe routine use only 20 years ago, the current associated research is mainly associated with risks associated with the procedure, and ways to overcome these risks. The next section in this page will discuss the current research on CVS and the risks involved in the procedure, and not what the test results may find. <br /> <br /> ====Hypertensive disorders of pregnancy====<br /> <br /> Hypertension, or high blood pressure, is a condition where systemic arterial blood presssure is elevated. Hypertension is one of the most common medical problem during pregnancy, affecting about 2-3% of pregnancies.&lt;ref&gt;Gibson, P., Carson, M.P, 2010. Hypertension and Pregnancy. Accessed 29 September, 2010. &lt;http://emedicine.medscape.com/article/261435-overview&gt;&lt;/ref&gt;<br /> Pregnancy induced hypertension is a condition that can occur during and after the 20th week of pregnancy. The types of hypertensive disorders can include:<br /> <br /> [[File:Enamel_Hypoplasia_Due_to_Maternal_Toxemia.jpg|thumb|200px|right|Enamel hypoplasia due to maternal toxemia]]<br /> <br /> *Pre-eclampsia or toxemia – Characterised as high blood pressure above 140/90 with proteinuria (protein in the urine that is above 300mg)<br /> * Eclampsia - Developed in a pregnant woman who has had pre-eclampsia and is characterised by seizures <br /> * Gestational hypertension – arterial hypertension that occurs after the 20th week of gestation <br /> <br /> If untreated, the condition may develop into HELLP syndrome which is a serious complication noted by hemolytic aneamia, elevated liver enzymes and a low platelet count. <br /> <br /> <br /> There has been conflicting evidence in literature that suggests that CVS is associated with hypertensive disorders in pregnancy such as pre-clampsia and gestational hypertension. In several studies, such as data from the National Institute of Health that compared late CVS procedures with early amniocentesis, showed a higher rite of gestational hypertension and preeclampsia in pregnant mothers.&lt;ref&gt;&lt;pubmed&gt;15738029&lt;/pubmed&gt;&lt;/ref&gt; (5.4% for mothers who had CVS and 3.5% that had amniocentesis.) It was hypothesized that disruption and disturbance of the placenta at 13-14 weeks may increase the risk of maternal hypertension. In addition, another recent study in 2006 also reported that there was an increase in the rate of pre-clampsia in first-time expectant mothers who have had CVS.&lt;ref&gt;&lt;pubmed&gt;19455602&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> However, in a very recent data investigation of among 9098 women that were pregnant between 1990 and 2006, the overall incidence of hypertensive disorders with women who have had CVS was 2.7% compared to the control group that did not have the procedure done which was 7.1%.&lt;ref&gt;&lt;pubmed&gt;19918960&lt;/pubmed&gt;&lt;/ref&gt; Similarly, in a study conducted by The American College of Obstetricians and Gynecologists,&lt;ref&gt;&lt;pubmed&gt;20664398&lt;/pubmed&gt;&lt;/ref&gt; 31, 138 women were that were included in the investigation showed that 2.2% developed preeclampsia and 2.8% developed gestation hypertension. Only 7.8% of those individuals had previously had CVS procedure performed. <br /> <br /> Although it can be said that some woman may develop hypertensive disorders during pregnancy that have also had the CVS procedure done in the past, there is no conclusive evidence so far that definitively associates CVS with hypertensive disorders such as pre-clampsia and gestation hypertension.<br /> <br /> ====Malformations====<br /> [[File:Craniosynostosis_.jpg|right|250 px]]<br /> <br /> <br /> Many malformations were thought to be a result of more invasive prenatal diagnostic techniques such as chorionic villus sampling. These malformations include, but are not limited to, cardiac malformations, hypospadias, craniosynostosis, pyloric stenosis, inguinal hernia, polydactyly, syndactyly, hydrocephalus and cleft lip and palate. Although these studies have now confirmed no known relationship with CVS, we will mention some below. &lt;ref&gt;&lt;pubmed&gt;7937577&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> '''Craniosynostosis''' is a condition where one of the sutures of the skull prematurely fuses, this causes the other sutures to compensate in growth for the fused suture. In normal development of the skull, the sutures allow for brain growth, so if one suture fuses prematurely, the brain can not grow normally, and the other sutures over expand in compensation. In the shown image, pictures a1 and a2 show the normal development and fusing of the infant skull. b2 shows how a suture is prematurely fused and b1 shows how the abnormality shows in an infant child.<br /> Craniosyntosis may result in increased pressure on the brain and developmental delays. Treatment of craniosynostosis usually consists of surgery to the skull where a zigzag incision is made to make the hair look more natural than the scar left by a straight incision. The surgery separates the sutures that have joined together to allow the head to develop normally.<br /> <br /> &lt;ref&gt;Silver, R.K., Macgregor, S.N., Muhlbach, L.H., Knutel, T.A. &amp; Kambich, M.P. 1994, &quot;Congenital malformations subsequent to chorionic villus sampling: Outcome analysis of 1048 consecutive procedures&quot;, Prenatal diagnosis, vol. 14, no. 6, pp. 421-427. &lt;/ref&gt;<br /> <br /> [[File:Polydactyly.jpg|left|200 px]]<br /> '''Polydactyly''' is a congenital condition where an extra digit is formed. Mostly it occurs on only one hand or foot, but sometimes can occur on all limbs. The extra digit is mostly a small non-function appendage of skin, less often it is an extension of the adjacent digit, and rarely it is a fully functioning finger that arises from the wrist or ankle joint like the other digits. Polydactyly can be described as: <br /> <br /> ● postaxial polydactyly (arising from the little finger)<br /> <br /> ● preaxial polydactyly (arising from the thumb) or<br /> <br /> ● central polydactyly (arising from anywhere between the other digits)<br /> <br /> Polydactyly is seen in 1 in every 500 births, but the extra digit is usually surgically removed shortly after birth<br /> &lt;ref&gt;&lt;pubmed&gt;20661588&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> [[File:Syndactyly2.JPG|left|200 px]]<br /> '''Syndactyly''' is also a congenital condition, but is seen when digits are fused together. Syndactyly can be described as:<br /> <br /> ● simple syndactyly (where only skin is fused to the adjacent finger)<br /> <br /> ● complex syndactyly (where the bone is fused together)<br /> <br /> ● incomplete syndactyly (where fusion is only part of the way up the digit), and,<br /> <br /> ● complete syndactyly (where fusion is to the tip of the digit)<br /> <br /> The picture on the left shows an example of polysyndactyly, where the digits are both fused, and there is an extra digit.<br /> &lt;ref&gt;&lt;pubmed&gt;20811188&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> <br /> <br /> <br /> <br /> ====Hemangiomas====<br /> <br /> [[File:Capillary_haemangioma.jpg|thumb|200px|right|Hemangioma]]<br /> <br /> A hemangioma is a benign tumour growth of endothelial cells that can occur in newborns and infants. Hemangiomas can occur anywhere in the body but are often localised on the skin of the face and neck, and are characterised by a red to reddish purple raised lesion on the skin, similarly to a &quot;strawberry&quot; like appearance. Its red appearance is due to the newly formed blood vessels, which result from the malformation of angioblastic tissues of fetal life.&lt;ref&gt;&lt;pubmed&gt;7063565&lt;/pubmed&gt;&lt;/ref&gt; <br /> Most hemangiomas do not cause any serious complications, and regress later on in life, where 90% of hemangiomas in children would disappear by the age of 9. <br /> <br /> Recently, research has linked the increase in the incidence of hemangiomas in infants following CVS. It has been postulated that the mechanism of hemangioma formation is associated with the embolisation of angioblasts or endothelial cells from the placenta to the fetal skin.&lt;ref&gt;&lt;pubmed&gt;19218861&lt;/pubmed&gt;&lt;/ref&gt; Although this may link hemangiomas to placental origin, it is unclear how, or whether CVS directly interferes or enhances the formation of these lesions. However, a recent study that compared the effects of CVS and amniocentesis on the prevalence of hemangiomas in infants showed that 27% of the study group had hemangiomas with CVS compared to 9.4% in children with hemangiomas and amniocentesis. &lt;ref&gt;&lt;pubmed&gt;20824891&lt;/pubmed&gt;&lt;/ref&gt; Furthermore, in an previous study conducted in 1995, there was a threefold increase in incidence after trancervical procedure was done, compared to amniocentesis.&lt;ref&gt;Lo, K., Mihm, M. &amp; Fay, A. 2009, &quot;Current Theories on the Pathogenesis of Infantile Hemangioma&quot;, Seminars in ophthalmology, vol. 24, no. 3, pp. 172-177. &lt;/ref&gt;&lt;ref&gt;&lt;pubmed&gt;7784377&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> =Future of Chorionic Villus Sampling and Prenatal diagnosis techniques=<br /> <br /> [[File:FISH_(technique).gif‎|thumb|250 px|FISH technique]]<br /> <br /> [[File:Comparative_Genomics.jpg|thumb|250 px|Comparative Genomics]]<br /> <br /> Prenatal diagnosis has been used to detect chromosomal abnormalities, especially Down’s syndrome, for over 30 years. As we have discussed on this page, the most common forms of prenatal diagnosis are amniocentesis, CVS and ultrasound. The type of test used depends on the history of the parents, any abnormalities detected in the initial ultrasound examination, and preferences of the parents. Testing for chromosomal abnormalities using amniocentesis and CVS is invasive and somewhat time consuming. Some recent advancements in this field include the use of fluorescence in situ hybridisation (FISH), quantitative fluorescence-PCR techniques, and comparative genomics. Although these techniques are currently still invasive, the waiting time for these tests is usually only 1 to 2 days for chromosomal abnormalities. &lt;ref&gt;&lt;pubmed&gt;20014413&lt;/pubmed&gt;&lt;/ref&gt; This waiting time would mean a much less stressful waiting period for the parents. The future of prenatal diagnosis certainly lies in the field of non invasive techniques, and research in the field of prenatal diagnosis is looking toward making detection of abnormalities non invasive, using the fetal cells from maternal circulation. &lt;ref&gt;&lt;pubmed&gt;20014413&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> '''Fluorescence in situ hybridisation (FISH):''' FISH is a cytogenetic technique, involving analysing the number and shape of the chromosomes of cells. FISH detects the addition or deletion of specific DNA sequences on chromosomes using florescent probes that bind to a similar sequence of chromosomes. Once the florescence probes are attached, fluorescence microscopy is used to view the chromosomes and detect the abnormality. [http://en.wikipedia.org/wiki/Fluorescent_in_situ_hybridization More about FISH]<br /> <br /> '''Quantitative fluorescence-PCR techniques:'''<br /> <br /> '''Comparative genomics:''' Comparative Genomics is a very new research field where the genome sequence of different organisms are compared. This comparison between organisms shows where a species genomes have been conserved (stabilising selection) and where differences occur (positive selection). Many species share the same genes, and comparative genomics can show what species share genes and which genes are different among species. This information can help us understand the function of different genes and identify and control diseases. The purpose is to gain a better understanding of how species have evolved and to determine the function of genes. [http://www.ornl.gov/sci/techresources/Human_Genome/faq/compgen.shtml More about Comparative Genomics]<br /> <br /> =Useful links=<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Wikipedia'''[http://en.wikipedia.org/wiki/Chorionic_villus_sampling Chorionic villus sampling]<br /> <br /> '''Fact sheets''' [http://www.thewomens.org.au/ChorionicVillusSamplingCVS Chorionic villus sampling]<br /> <br /> '''Images''' [http://www.google.com.au/images?q=chorionic+villus+sampling&amp;oe=utf-8&amp;rls=org.mozilla:en-US:official&amp;client=firefox-a&amp;um=1&amp;ie=UTF-8&amp;source=univ&amp;ei=yCWcTKT-NsircY-nzNEJ&amp;sa=X&amp;oi=image_result_group&amp;ct=title&amp;resnum=4&amp;ved=0CD4QsAQwAw&amp;biw=1280&amp;bih=615 Chorionic villus sampling]<br /> <br /> '''You tube video of procedure''' [http://www.youtube.com/watch?v=0XUZsvTkEnw Chorionic villus sampling]<br /> <br /> =Glossary=<br /> <br /> '''Amniocentesis''' - A prenatal diagnostic test involving sampling of amniotic fluid by needle aspiration for genetic analysis.<br /> <br /> '''Amnion''' - An extraembryonic membrane ectoderm and extraembryonic mesoderm in origin and forms the innermost fetal membrane, produces amniotic fluid. This fluid-filled sac initially lies above the trilaminar embryo disc and with embryoic disc folding this sac is drawn ventrally to enclose (cover) the entire embryo, then fetus.<br /> <br /> '''Amniotic cavity''' - The fluid-filled (amniotic fluid) extraembryonic coelom (cavity) formed initially by epiblast and then ectoderm and surrounding extraembryonic mesoderm. In humans, it forms the innermost fetal membrane, produces amniotic fluid expanding to fuse with the chorionic membrane during week 8 of development.<br /> <br /> '''Amniotic fluid''' - The fluid that fills amniotic cavity totally encloses and cushions the embryo.<br /> <br /> '''Cannula''' - A flexible medical tube with a sharp-pointed part at one end that is inserted into a duct, vein, or cavity in order to drain away fluid or to administer drugs<br /> <br /> '''Chorion''' - The extraembryonic membrane generated from trophoblast and extraembryonic mesoderm that forms placenta. chorion and amnion are made by the somatopleure. The chorion becomes incorporated into placental development. The avian and reptilian chorion lies beside the egg shell and allows gas exchange.<br /> <br /> '''Chorionic villus sampling (CVS)''' - The taking a biopsy of the placenta, usually at the end of the second month of pregnancy, to test the fetus for genetic abnormalities.<br /> <br /> '''Chromosome''' - double stranded DNA coiled around histones. Condenses during mitosis and meiosis.<br /> <br /> '''Ectoderm''' - One of the initial 3 germ cell layers, which will form the nervous system from the neural tube and neural crest and also generates the entire epithelial layer of the skin covering the embryo.<br /> <br /> '''Endoscope''' - a long slender medical instrument for examining the interior of a bodily organ or performing minor surgery<br /> <br /> '''Endoderm''' - One of the initial 3 germ cell layers (ectoderm, mesoderm and endoderm) formed by the process of gastrulation. The endoderm forms as a cuboidal epithelium and contributes not only to the trilaminar embryo, but also lines the yolk sac. It will form the entire epithelial lining of the gastrointestinal tract (GIT), contribute to the accessory organs of GIT and also forms the epithelial lining of the respiratory tract.<br /> <br /> '''Fetus''' - In mammals, term describes the period of development following the embryonic period. In humans, the development week 9 to 36 is the fetal stage (second and third trimester). (see fetal period above). This term is also used non-scientifically to describe the human conceptus at both embryonic and fetal stages of development.<br /> <br /> '''Gene''' - A DNA sequence that is transcribed as a single unit and encodes a single polypeptide (protein) or a set of closely related polypeptides. There are approximately 20,000-25,000 protein encoding genes in the human genome. In each cell, DNA is found within the nucleus and also within mitochondria.<br /> <br /> '''Gestation''' - The period of time from conception to birth. A pregnancy with multiple fetuses is referred to as a multiple gestation.<br /> <br /> '''Mesoderm''' - The middle layer of the 3 germ cell layers of the trilaminar embryo.<br /> <br /> '''Miscarriage''' - A general clinical term for the loss of embryo or fetus by spontaneous abortion.<br /> <br /> '''Mitosis''' - The normal division of all cells, except germ cells, where chromosome number is maintained (diploid). <br /> <br /> '''Prenatal diagnosis''' - any of the diagnostic procedures used to determine whether a fetus has a genetic abnormality<br /> <br /> '''Tenaculum''' - instrument used to grasp the cervix and keep the uterus in place during gynecological procedures.<br /> <br /> '''Termination''' - The spontaneous or artificially induced expulsion of an embryo or fetus. As used in legal context, the term usually refers to induced abortion.<br /> <br /> '''Transabdominal''' - In the transabdominal CVS technique, the physician inserts a needle through the abdomen into the placenta. This is also done with ultrasound, to guide the physician<br /> <br /> '''Transcervical''' - In the transcervical CVS technique, the physician inserts a small tube through the cervix into the placenta. This is done while ultrasound guides the physician<br /> <br /> '''Ultrasound''' - A non-invasive technique for visualizing and prenatal diagnosis of several features of development including: follicles in the ovaries, the gestational sac, fetus in the uterus, fetal parameters, and the placenta. The technique uses high-frequency sound waves that are reflected off internal structures. These reflections can then be analysed and displayed by computer.<br /> <br /> '''Villi''' - Plural of villus, which is a thin projection from a surface. A term used to describe the many functional units together of the fetal placenta. <br /> <br /> '''Vitelline arteries and veins''' - The blood vessels which form in the extraembryonic mesoderm of the yolk sac and anastomose are called vitelline arteries (flow away from the embryo) and vitelline veins (flow toward the embryo).<br /> <br /> ==Prenatal Diagnosis Terms==<br /> <br /> '''false negative rate''' - The proportion of pregnancies that will test negative given that the congenital anomaly is present.<br /> <br /> '''false positive rate''' - The proportion of pregnancies that will test positive given that the congenital anomaly is absent.<br /> <br /> '''negative predictive value''' - The probability that a congenital anomaly is absent given that the prenatal screening test is negative.<br /> <br /> '''positive predictive value''' - The probability that a congenital anomaly is present given that the prenatal screening test is positive.<br /> <br /> '''pre-implantation genetic diagnosis''' - (PGD) a screening procedure for embryos produced through in vitro fertilisation (IVF) for genetic diseases that would generate developmental abnormalities or serious postnatal diseases.<br /> <br /> '''prenatal screening sensitivity''' - (detection rate) The probability of testing positive on a prenatal screening test if the congenital anomaly is present.<br /> <br /> '''prenatal screening specificity''' - The probability of testing negative on a prenatal screening test if the congenital anomaly is absent.<br /> <br /> <br /> ==Glossary Links==<br /> <br /> :[[A|A]] | [[B|B]] | [[C|C]] | [[D|D]] | [[E|E]] | [[F|F]] | [[G|G]] | [[H|H]] | [[I|I]] | [[J|J]] | [[K|K]] | [[L|L]] | [[M|M]] | [[N|N]] | [[O|O]] | [[P|P]] | [[Q|Q]] | [[R|R]] | [[S|S]] | [[T|T]] | [[U|U]] | [[V|V]] | [[W|W]] | [[X|X]] | [[Y|Y]] | [[Z|Z]] | [[Numbers|Numbers]]<br /> <br /> =References=<br /> &lt;references/&gt;<br /> <br /> == 2010 ANAT2341 Group Projects ==<br /> <br /> [[2010_Group_Project_1|Project 1 - Ultrasound]] | [[2010_Group_Project_2|Project 2 - Chorionic villus sampling]] | [[2010_Group_Project_3|Project 3 - Amniocentesis]] | [[2010_Group_Project_4|Group Project 4 - Percutaneous Umbilical Cord Blood Sampling]] | [[2010_Group_Project_5|Project 5 - Fetal Fibronectin]] | [[2010_Group_Project_6|Project 6 - Maternal serum alpha-fetoprotein]] | [[ANAT2341_2010_Students|Students Page]]<br /> <br /> <br /> {{Template:Footer}}<br /> [[Category:2010ANAT2341]] [[Category:Science-Undergraduate]]</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=File:Comparative_Genomics.jpg&diff=39551 2010-10-06T03:21:01Z

<p>Z3265772: Real time quantitative PCR using Molecular Beacons. Image source: http://en.wikipedia.org/wiki/File:Molecular_Beacons.jpg Copyright: Permission is granted to copy, distribute and/or modify this document under the terms of the GNU Free Documentation Lice</p> <hr /> <div>Real time quantitative PCR using Molecular Beacons.<br /> <br /> Image source: http://en.wikipedia.org/wiki/File:Molecular_Beacons.jpg<br /> <br /> Copyright: Permission is granted to copy, distribute and/or modify this document under the terms of the GNU Free Documentation License, Version 1.2 or any later version published by the Free Software Foundation; with no Invariant Sections, no Front-Cover Texts, and no Back-Cover Texts. A copy of the license is included in the section entitled &quot;GNU Free Documentation License&quot;.</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=2010_Group_Project_2&diff=39549 2010-10-06T02:50:33Z

<p>Z3265772: /* Future of Chorionic Villus Sampling and Prenatal diagnosis techniques */</p> <hr /> <div>[[File:Embryo_11-14_weeks.jpg|right|400 px]]<br /> <br /> ='''Chorionic Villus Sampling (CVS)'''=<br /> <br /> =Introduction=<br /> <br /> [[Image:Gray31.png|thumb|350px|right|Grays]]<br /> <br /> <br /> Chorionic villus sampling or CVS is a type of prenatal diagnosis test performed in the first trimester to detect major fetal abnormalities such as down syndrome, cystic fibrosis and tay-sachs disease, among many others. In the procedure, tissue is withdrawn from small finger like projections on the placenta called chorionic villi and tested for chromosomal defects. It is commonly performed between 10 and 12 weeks of pregnancy. <br /> The advantage of CVS over other procedures is that the result is available approx 6 weeks earlier in the pregnancy, so if a termination is needed, it can be done earlier which is much safer, rather than later in the pregnancy, which can carry more risks. &lt;ref&gt;Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., de, l.C., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Lubs, H.A., Mahoney, M.J., Pergament, E., Simpson, J.L., Carpenter, R.J., Elias, S., Ginsberg, N.A., Goldberg, J.D., Hobbins, J.C., Lynch, L., Shiono, P.H., Wapner, R.J. &amp; Zachary, J.M. 1989, &quot;The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities&quot;, New England Journal of Medicine, vol. 320, no. 10, pp. 609-617.&lt;/ref&gt;<br /> <br /> ''Reasons for getting chorionic villus sampling can include:''<br /> <br /> -History of genetic disorders in the family<br /> <br /> -Parents have already had a child with a disorder such as down syndrome or cystic fibrosis<br /> <br /> -Abnormal ultrasound result<br /> <br /> -Maternal age of 35 or older, which increases the risk of chromosomal defects such as down syndrome<br /> <br /> <br /> =Historic background=<br /> <br /> <br /> '''Brief timeline of CVS use'''<br /> <br /> *1968 - Mohr in Scandinavia introduced the concept of prenatal diagnosis using chorionic villi sampling &lt;ref&gt;&lt;pubmed&gt;5691288&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1973 - Kullander and Sandahl and Hahnemann in 1974 showed further study into chromosomal analysis from CVS &lt;ref&gt;&lt;pubmed&gt;4766093&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1975 - from the Department of Obstetrics and Gynaecology at the Tietung Hospital in Anshan, China was successful in using CVS to determine sex of fetuses for sex pre selection. &lt;ref&gt;&lt;pubmed&gt;811431&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1980 - Kazy et al. were the first to use ultrasound guidance during chorionic villi sampling. &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1981 - Niazi et al. improved methods for culturing of fibroblasts from trophoblast villi. &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1983 - Ward performed transcervical CVS with 67% success rate. In the same year, the Brombati group demonstrated and 96% success rate with obtaining villi with the aid of ultrasound guidance &lt;ref&gt;&lt;pubmed&gt;6463023&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1984 - Smidt-Jensen and Hahnemann introduced transabdominal CVS under ultrasound guidance &lt;ref&gt;&lt;pubmed&gt;4088973&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1986 - The Golbus group had a 3.8% miscarriage rate, and subsequently many other clinics started reporting a much lower rate of miscarriage at 1.7% making the procedure safe for routine use &lt;ref&gt;&lt;pubmed&gt;3717235&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> ===Jan Mohr (1921-2009)===<br /> [[Image:Jan_Mohr.jpg|thumb|200px|left|Jan Mohr]]<br /> <br /> <br /> '''1968 -- Concept of CVS introduced'''<br /> <br /> In 1968 Jan Mohr introduced the concept of prenatal diagnosis using the CVS technique. &lt;ref&gt;&lt;pubmed&gt;5691288&lt;/pubmed&gt;&lt;/ref&gt; He used the transcervical method to get a biopsy of the chorion using an endoscope as the source of vision. The current technique differs by using mostly transabdominal access with ultrasound instead of an endoscope. He reported a 96% success rate in obtaining chorionic material but with a high incidence of bleeding and infection. The approach was abandoned as amniocentesis became more popular due to higher safety levels<br /> <br /> <br /> <br /> '''1973-1975 -- Further study into chromosomal analysis from CVS'''<br /> <br /> Kullander and Sandahl in 1973 and Hahnemann in 1974 further researched fetal chromosome analysis using transcervical biopsy before termination in early pregnancies. &lt;ref&gt;&lt;pubmed&gt;4766093&lt;/pubmed&gt;&lt;/ref&gt; In 1975 the first successful diagnostic use of chorionic villi was reported at the Tietung Hospital in China. &lt;ref&gt;&lt;pubmed&gt;811431&lt;/pubmed&gt;&lt;/ref&gt; This is where fetal sex was diagnosed for the purpose of sex pre-selection. They claimed to have 94% diagnosis success and only 4% miscarriage rate. Researchers in the United States were, however unable to duplicate the results and so the idea of CVS diagnosis was again abandoned for some time.<br /> <br /> <br /> '''1980-1983 -- Change from endoscopic examination to ultrasound to guide CVS'''<br /> <br /> With the invention of the ultrasound and advancement in molecular genetics, an earlier prenatal diagnosis was now sought after. So Kazy et al. in 1980, began using both the endoscope and the ultrasound for fetal sexing on chorion biopsies. This was the first report of using ultrasound guidance during chorion sampling. After Kazy et.al. began using the ultrasound for guidance, many others followed. Niazi et al., Ward and the Brombati group all started using ultrasound guided CVS. Techniques quickly improved and success rate of obtaining chorionic material rose from 75% to 96% &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> '''1984-1986 -- The introduction of transabdominal CVS'''<br /> <br /> In 1984, Smidt-Jensen and Hahnemann in Copenhagen introduced transabdominal CVS using ultrasound guidance. &lt;ref&gt;&lt;pubmed&gt;6463023&lt;/pubmed&gt;&lt;/ref&gt; With less chance of infective complications the procedure has become more popular than the transcervical method in many prenatal diagnostic centers. Other ultrasonic techniques and modifications were explored by the Brambati and Simoni group and the Golbus group in 1985. &lt;ref&gt;&lt;pubmed&gt;4088973&lt;/pubmed&gt;&lt;/ref&gt; The Golbus group reported in 1986 a miscarriage rate of 3.8%. &lt;ref&gt;&lt;pubmed&gt;3717235&lt;/pubmed&gt;&lt;/ref&gt; Subsequently, many other centres reported a much lower miscarriage rate of 1.5% which made the procedure safe for routine use.<br /> <br /> ==Table Comparing Prenatal Diagnosis Techniques==<br /> <br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ This table shows invasiveness and timeframe for some prenatal diagnostic techniques<br /> ! Invasiveness !! Diagnostic technique !! Comments !! Time that procedure can be performed !! Diagram<br /> |-<br /> |Non Invasive<br /> |[[2010_Group_Project_1|Ultrasound]]<br /> |'''Tests for:''' neural tube defects, chromosomal abnormalities and congenital heart abnormalities<br /> <br /> '''Risks:''' No risks currently indicated for ultrasound use in prenatal diagnosis. <br /> <br /> This test uses high frequency sound waves through a transmitting device, which construct a picture of the fetus when the waves are reflected and received back by the transmitter. Due to no known risks, ultrasound use is used routinely in pregnancies and is the first port of call for prenatal diagnosis. If a potential abnormality is found or the parents are high risk, then a more invasive diagnostic technique may be recommended. The type of diagnostic technique used depends on the potential abnormality found. &lt;ref&gt;Kremkali, F.W. (2006) Diagnostic Ultrasound Principles and Instruments (7th ed.) St Louis: Saunders Elsevier. pp3-5&lt;/ref&gt;[[2010_Group_Project_1|More about Ultrasound]]<br /> |Weeks 18-20<br /> |[[File:ZConvex_Array_Transducer.jpg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> |'''Tests for:''' chromosomal abnormalities and genetic abnormalities <br /> <br /> '''Risks:''' Miscarriage (1%), some of the side effects include dizziness, abdominal discomfort, cramping, haemorrhage, infection, ruptured amniotic sac, increased risk of limb defects if the test was performed at nine weeks’ gestation or earlier &lt;ref&gt;Alfirevic, Z., K. Sundberg, et al. 2008. &quot;Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review).&quot; Cochrane Database of Systematic Reviews 4: 1-134.&lt;/ref&gt;<br /> <br /> With the guidance of Ultrasound, a needle is inserted in to the abdomen or through the cervix and a small sample of chorionic villi from the placenta are obtained. This sample is sent to a cytogenetics laboratory where the cells are cultured and stained, and photographed to view chromosomes <br /> |Weeks 10-12<br /> |[[File:Transabdominal_CVS.jpg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_3|Amniocentesis ]] <br /> |'''Tests for:''' chromosomal abnormalities, fetal infections, and genetic abnormalities<br /> <br /> '''Risks:''' Miscarriage &lt;1%, stillbirths 3%, and small risk of infection. &lt;ref&gt;&lt;pubmed&gt;PMC2464303&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> A needle is inserted in to the uterus where a sample of the amniotic fluid surrounding the fetus is taken. This procedure is usually done with the guidance of ultrasound so the physician can see where the needle is being inserted. The amniotic fluid is analysed for abnormalities. [[2010_Group_Project_3|More about Amniocentesis ]]<br /> |Weeks 15-16<br /> |[[File:Process_of_amniocentesis.jpeg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_4|Percutaneous Umbilical Cord Blood Sampling]]<br /> |'''Tests for:'''chromosomal abnormalities, blood disorders, some metabolic disorders, fetal infections, and some causes of structural problems.<br /> <br /> '''Risks:'''Miscarriage &lt;2%, Preterm labour, fetal bradycardia, bleeding of the umbilical cord. &lt;ref&gt;&lt;pubmed&gt;16530195&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> A small needle is inserted in to the abdomen of the mother and a sample of blood is taken from the umbilical vein in the umbilical cord. This technique is often used when other diagnostic techniques are inconclusive, but should be used with caution as carries higher risk rates. The benefit of Percutaneous Umbilical Cord Blood Sampling is that the results are available much faster, within 72 hours of testing. CVS and amniocentesis tests need culturing and therefore take up to 11 days for a result. [[2010_Group_Project_4|More about Percutaneous Umbilical Cord Blood Sampling]]<br /> |Weeks 18-22<br /> |[[File:Placenta_Anterior.jpg|right|150 px]]<br /> |-<br /> |Less Invasive<br /> |[[2010_Group_Project_5|Fetal Fibronectin]]<br /> |'''Tests for:'''determines the likelihood of premature birth in women of high risk<br /> <br /> '''Risks:'''No known risks for the testing of Fetal Fibronectin, as is it less invasive than other techniques.<br /> <br /> Fetal Fibronectin is only found in the uterus until the onset of labour when is secretes in through the cervix. In this procedure, a sample of the cervico-vaginal secretions are taken and sent to the lab for testing. If the test comes out positive for Fetal Fibronectin in the vagina, the mother has a chance of going into premature labour. [[2010_Group_Project_5|More about Fetal Fibronectin]]<br /> |Weeks 24-34<br /> |[[File:FetalFN.jpg|right|150 px]]<br /> |-<br /> |Non Invasive<br /> |[[2010_Group_Project_6|Maternal serum alpha-fetoprotein]]<br /> |'''Tests for:'''AFP is a type of screening test and do not diagnose problems, but signal whether further testing is needed. Normal AFP levels are increased in Neural Tube Defects and Omphalocoele &amp; decreased in Down Syndrome.<br /> <br /> '''Risks:'''No known risks as Maternal serum alpha-fetoprotein is non invasive<br /> <br /> A blood sample is taken from the mother and alpha-fetoprotein levels are measured in the lab. These measurements can determine the risk level of certain abnormalities in the fetus. The advantage is that it is non invasive, but the disadvantage is that it has a very high false positive rate, so many mothers have gone on to have amniocentesis or chorionic villus sampling to find nothing is wrong with the baby. This can be overcome by having another alpha-fetoprotein test before getting amniocentesis or chorionic villus sampling. [[2010_Group_Project_6|More about Maternal serum alpha-fetoprotein]]<br /> |Weeks 15-20<br /> |[[File:Enzyme_immunoassay.jpg|right|150 px]]<br /> |-<br /> |}<br /> <br /> =Description of technique=<br /> [[File:Gray37.png|right|thumb|280px|Sample is taken from the chorionic villi]]<br /> [[File:transabdominal_CVS.jpg|right|thumb|280px|Transabdominal Technique]]<br /> [[File:transcervicalCVS.jpg|right|thumb|280px|Transcervical Technique]]<br /> <br /> The CVS procedure involves taking a sample of the chorion frondosum — the part of the chorionic membrane containing the villi. Between 10-12 weeks of pregnancy, the developing gestational sac is composed of a thick, outer chorionic membrane surrounding the amniotic cavity, a thin amniotic membrane and the chorionic cavity. The chorionic villi have now degenerated over most of the outer membrane, forming the chorion laeve, and the remaining villi fuses and embeds loosely into the decidua basalis. This forms the chorion frondosum, which will ultimately become the placenta. At this stage, the villi float freely in the blood of the intervillus space. Each villi is branched, and is composed of an outer syncytiotrophoblast and an inner cytotrophoblast layer. Within the centre of each villus is a mesenchymal core which contain capillaries carrying fetal blood. In CVS, usually samples of both cells lines (cytotrophoblasts and mesenchymal cells) are obtained. Chromosomal analysis of these cell lines can be performed by means of direct preparations, short-term cultures (cytotrophoblasts), or long-term cultures (mesenchymal cells) of the chorionic villi.&lt;ref&gt;Jenkins, T.M, Wapner, R.J, 1999. First trimester prenatal diagnosis: Chorionic villus sampling. Seminars in Perinatology. pp403-413.&lt;/ref&gt; <br /> <br /> CVS can be performed in two ways, through the cervix (transcervical) or through the abdomen (transabdominal). Both techniques are equally safe when performed by an experienced technician, however miscarriage rates are somewhat higher when done through the cervix. Prior to the procedure, an abdominal ultrasound can be performed to locate the position of the uterus, and the placenta. A full bladder is not required. Depending on the type of method performed, the vulva, vagina, cervix or abdomen are cleaned with antiseptic. The procedure normally takes only 1-2 minutes to perform and the patient is able to leave the clinic within the hour after the fetus is checked.&lt;ref&gt;Melbourne Ultrasound for Women. Chorionic Villus Sampling. Accessed 5 September 2010. http://www.nevdgp.org.au/info/melb_us/cvs_melb.htm&lt;/ref&gt; <br /> <br /> ===Transabdominal Procedure===<br /> <br /> # A local anaesthetic is first applied to the abdomen.&lt;br&gt;<br /> # A thin hollow needle is then inserted through the abdomen into the uterus and into the edge of the placenta where the chorion is located. An ultrasound transducer is commonly used to guide the needle during the procedure. &lt;br&gt;<br /> # A finer syringe needle is then passed through the outer needle, and the tissue is then drawn.&lt;br&gt;<br /> # The sample is taken to the laboratory for testing. <br /> <br /> ===Transcervical Procedure===<br /> # A speculum is inserted in the vagina and the area is cleaned with antiseptic.&lt;br&gt;<br /> # With the help of ultrasound imaging, a thin cannula is then inserted through the cervix and uterus and into the placenta.&lt;br&gt;<br /> #The tissue sample is then taken up through the cannula.&lt;br&gt;<br /> &lt;ref&gt;&lt;pubmed&gt;20154617&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> After the sample is taken to the laboratory, the cells are grown until there are enough cells for chromosome testing. The results normally take up to 2 weeks to complete.<br /> <br /> ===Complications===<br /> <br /> Some of the side effects and complications after a CVS procedure can include:<br /> <br /> * Dizziness <br /> * Abdominal discomfort<br /> * Cramping<br /> * Haemorrhage<br /> * Infection<br /> * Ruptured amniotic sac<br /> * Increased risk of limb defects if the test was performed at nine weeks’ gestation or earlier<br /> * Premature delivery<br /> &lt;ref&gt;Alfirevic, Z., K. Sundberg, et al. 2008. &quot;Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review).&quot; Cochrane Database of Systematic Reviews 4: 1-134.&lt;/ref&gt;<br /> <br /> Additional complications can involve technical errors such as failure of the specimen to grow sufficiently in the laboratory and uncertain laboratory results. If this occurs, amniocentesis is still an option after 15 weeks.<br /> <br /> ===Results and Accuracy===<br /> <br /> The accuracy of CVS to detect chromosome abnormalities is quite high, at around 98-99% &lt;ref&gt;Hall, Judith G. &quot;Chromosomal Clinical Abnormalities.&quot; In Nelson Textbook of Pediatrics. Edited by Richard E. Behrman et al. Philadelphia: Saunders, 2004.&lt;/ref&gt;. Although it has a high accuracy rate to diagnose most major chromosomal problems, CVS does have some limitations. Having a negative result for an abnormality does not rule out ALL genetic defects the baby may have. Comparatively to amniocentesis, CVS does NOT detect neural tube defects such as spina bifida, or anencephaly. <br /> The type of chromosome abnormalities detected by CVS will be further discussed in detail below.<br /> <br /> ===Limitations===<br /> [[file:Double_tetrasomy_18_mosaicism.jpg‎|thumb|250 px|Example of a child with double tetrasomy 18+ mosaicism.]]<br /> <br /> '''Maternal contamination'''<br /> <br /> Since the villus sample also involves maternal cells, there is a possibility that they may take over the laboratory culture instead, consequently leading to the mother's cells being tested instead of the fetus's cells. The risk of this happening is low however and is decreased when the sample contains an adequate amount of fetal cells.<br /> <br /> <br /> '''Mosaicism'''<br /> <br /> &quot;Mosaicism&quot; occurs when both abnormal and normal cells are found in the chorionic villi. Mosaicism can involve both the fetus (true fetal mosaicism) and the placental tissues or the placental tissues alone. When this happens, cells that multiply from these abnormal cells may develop a chromosome anomaly.<br /> What can result is that in certain body organs the fetus has a combination of cells that are abnormal and normal in genetic structure. <br /> The rate of the placental type occuring is found in 1-2% of pregnancies detected by CVS.&lt;ref&gt;&lt;pubmed&gt;9316125&lt;/pubmed&gt;&lt;/ref&gt; When mosaicism is detected by CVS, the limitation lies in the inability to conclude that the baby itself and not just the placental tissues will share the mosaicism. Even if the baby is affected, it will be unclear as to what percentage of the fetal cells and the type of organs that will be affected.&lt;ref&gt;Trofatter. K.F. 2008. Chromosomal Mosaicism Detected at the Time of Chorionic Villus Sampling. Accessed on 15 September 2010. http://www.healthline.com/blogs/pregnancy_childbirth/2008/03/chromosomal-mosaicism-detected-at-time.html&lt;/ref&gt;<br /> <br /> =Risks=<br /> <br /> <br /> When Chorionic Villus Sampling is performed, a small sample of the placenta is removed for analysis. The placenta contains fetal material, therefore can reveal genetic defects which may lead to problems or abnormalities. &lt;ref&gt;&lt;pubmed&gt;20664398&lt;/pubmed&gt;&lt;/ref&gt; This prenatal test can be performed as early as 11 weeks into the pregnancy, this is earlier than many prenatal diagnosis tests, which is why many parents choose CVS as they can have solid information earlier in the pregnancy. Some common risks which are not under current research include: Cramping, light blood spotting, pain, fever and chills, leakage (which can be a major concern as it can lower amniotic fluid to a dangerous level for the infant), and potential for missing fingers and toes in the newborn. For this reason, the procedure is only recommended for women who are at least 11 weeks pregnant. &lt;ref&gt;&lt;pubmed&gt;20051662&lt;/pubmed&gt;&lt;/ref&gt; The other major risks that are currently being researched are outlined below<br /> <br /> ====Transabdominal vs Transcervical CVS. Comparison of risks====<br /> <br /> <br /> [[File:CVS_Table.jpg|left|thumb|280px|Transabdominal vs Transcervical risks]]<br /> <br /> This table shows the symptoms of women approximately 3 days after sampling. The table shows women who had undergone transcervical sampling had higher frequencies of fluid leakage, vaginal spotting, and bleeding. When a tenaculum is not used, the frequency of vaginal spotting and bleeding persisted in the transcervical-sampling group. Only two women, both in the transcervical-sampling group, had a temperature above 38°C. &lt;ref&gt;Jackson, L.G., Zachary, J.M., Fowler, S.E., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Mahoney, M.J., Pergament, E., Simpson, J.L., Black, S. &amp; Wapner, R.J. 1992, &quot;A Randomized Comparison of Transcervical and Transabdominal Chorionic-Villus Sampling&quot;, New England Journal of Medicine, vol. 327, no. 9, pp. 594-598.&lt;/ref&gt;<br /> <br /> <br /> ====Miscarriage====<br /> <br /> One of the biggest risks of Chorionic Villus Sampling is miscarriage. In one to 100 or 200 cases, the procedure is linked with miscarriage. &lt;ref&gt;&lt;pubmed&gt;19155918&lt;/pubmed&gt;&lt;/ref&gt; In an experienced clinic, this rate may go down to one in 300 to 400. To lower the risk of miscarriage with Chorionic Villus Sampling, it is recommended the procedure be performed by an experienced clinician<br /> <br /> <br /> ====Oligohydramnios====<br /> <br /> Oligohydramnios is a condition due to low amniotic fluid level, which is caused by amniotic fluid leakage. Amniotic fluid leakage is typically caused by fetal urinary tract abnormalities such as Potter's syndrome, polycystic kidneys, or genitourinary obstruction. But leakage can sometimes be caused by sampling of the chorionic villi due to insertion of the needle. If the resulting oligohydramnios is not treated and the amniotic fluid continues to leak it can result in the baby developing hypoplastic lungs (underdeveloped lungs). &lt;ref&gt;&lt;pubmed&gt;17694578&lt;/pubmed&gt;&lt;/ref&gt;&lt;br&gt;&lt;br&gt;<br /> <br /> <br /> '''Why would you use CVS over other techniques?'''<br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ Advantages and Disadvantages of Chorionic Villus Sampling<br /> ! Advantages !! Disadvantages <br /> |-<br /> |Can be performed earlier in pregnancy than amniocentesis (at around ten weeks).<br /> <br /> Results are available faster<br /> <br /> Cells obtained are mitotically active<br /> <br /> Amount of tissue obtained is preferable for DNA analysis.<br /> <br /> It is almost 100% reliable in detecting chromosomal and genetic defects.<br /> |It carries a slightly higher risk of miscarriage (1%-2%) than does amniocentesis<br /> <br /> It's less commonly available than amniocentesis, and fewer doctors are experienced in the procedure.<br /> <br /> It entails a greater risk of distorted results than does amniocentesis due to presence of mother's cells in the sample and discrepancies between chorionic villi and fetal genes.<br /> <br /> Metabolic disorders are difficult to diagnose and must be confirmed with amniocentesis.<br /> <br /> Because of the early gestational age at which the test is performed, fetal anatomy cannot be seen as well as it can at the time amniocentesis is performed.<br /> |-<br /> |}<br /> &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt;<br /> <br /> =Abnormalities found by CVS prenatal diagnostic technique=<br /> <br /> [[File:Down-normal.gif|right|thumb|280px|Normal]]<br /> <br /> [[File:Down-extra.gif|right|thumb|280px|third copy of chromosome 21]]<br /> <br /> The cells collected by CVS are sent to a cytogenetics laboratory. There the cells are cultured (stimulated to grow and divide) for 10-14 days. After enough cells are obtained, a banded karyotype is performed. This means that the fetal chromosomes in the cultured cells are stained and subsequently photographed. The photographed chromosomes are then ordered by number, counted and checked for structural abnormalities. There should be 46 chromosomes, 23 pairs. A boy's karyotype is described as 46,XY and a girl's karyotype is described as 46,XX.&lt;ref&gt;Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., de, l.C., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Lubs, H.A., Mahoney, M.J., Pergament, E., Simpson, J.L., Carpenter, R.J., Elias, S., Ginsberg, N.A., Goldberg, J.D., Hobbins, J.C., Lynch, L., Shiono, P.H., Wapner, R.J. &amp; Zachary, J.M. 1989, &quot;The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities&quot;, New England Journal of Medicine, vol. 320, no. 10, pp. 609-617. &lt;/ref&gt;<br /> <br /> <br /> <br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ This table shows what disorders CVS detects, the cause, frequency and any comments<br /> ! Disorder !! Cause !! Comments !! Frequency !! Picture <br /> |-<br /> |[[ Trisomy 21 | Down Syndrome ]]<br /> |A third copy of chromosome 21<br /> <br /> Normally, there are only two copies of this chromosome<br /> |The average IQ of children with Down syndrome is around 50, compared to normal children with an IQ of 100. Complications for people with down syndrome include: congenital heart defects, gastroesophageal reflux disease, recurrent ear infections, obstructive sleep apnea, and thyroid dysfunctions. &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt; The picture shows a newborn infant with Down Syndrome (Trisome 21)<br /> |Approximately 1 in 1,000 births &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt;<br /> |[[File:Trisomy_21_newborn.jpg|right|200 px]]<br /> |-<br /> |[[ Trisomy 13 | Trisomy 13 ]]<br /> |A third copy of chromosome 13<br /> <br /> Normally, there are only two copies of this chromosome<br /> |Also called Patau syndrome. This abnormality causes mental and motor abnormalities, polydactyly (extra digits), kidney defects, abnormal genitalia and heart defects, among many others. &lt;ref&gt;Driscoll, D.A. &amp; Gross, S. 2009, &quot;Prenatal Screening for Aneuploidy&quot;, New England Journal of Medicine, vol. 360, no. 24, pp. 2556-2562. &lt;/ref&gt; The picture shows an infant with polydactyly, a potential complication of Trisome 13<br /> |Less than 1% <br /> |[[File:220px-Patauhand.PNG|right|200 px]]<br /> |-<br /> |[[ Trisomy 18 | Trisomy 18 ]]<br /> |A third copy of chromosome 18<br /> <br /> Normally, there are only two copies of this chromosome<br /> |Also known as Edwards syndrome. It has a very low survival rate, due to: kidney and heart defects, intestines protruding outside the body, mental abnormalities, growth disorders, feeding and breathing difficulties. &lt;ref&gt;Driscoll, D.A. &amp; Gross, S. 2009, &quot;Prenatal Screening for Aneuploidy&quot;, New England Journal of Medicine, vol. 360, no. 24, pp. 2556-2562. &lt;/ref&gt; The picture shows a clenched hand and overlapping fingers: index finger overlaps third finger and fifth finger overlaps fourth finger, characteristically seen in Trisomy 18.<br /> |1 in 3,000 conceptions and approximately 1 in 6,000 live births <br /> |[[File:200px-Overlapping_fingers.JPG|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Cystic_fibrosis Cystic Fibrosis]<br /> |A mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR) in chromosome 7.<br /> |An autosomal recessive disease that causes excessive sticky mucous to form on mucosal surfaces effecting the digestive and respiratory organs. &lt;ref&gt;Levison, J.H., Barbieri, R.L., Katz, J.T. &amp; Loscalzo, J. 2010, &quot;Hard to Conceive&quot;, New England Journal of Medicine, vol. 363, no. 10, pp. 965-970. &lt;/ref&gt; The picture shows clubbing of the fingers in a person with cystic fibrosis<br /> |Approx 1 in 3,000 <br /> |[[File:220px-ClubbingCF.JPG|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Hemoglobinopathy Hemoglobinopathy]<br /> |Structural abnormalities in the globin proteins <br /> |Multiple types of abnormal haemoglobins exist including Haemoglobin S, C E and D that alter the structure of these proteins. A common defect is sickle cell disease.&lt;ref&gt;Abboud, M.R. 2009, &quot;Hematopoietic Stem-Cell Transplantation for Adults with Sickle Cell Disease&quot;, New England Journal of Medicine, vol. 361, no. 24, pp. 2380-2381. &lt;/ref&gt;<br /> |Hemoglobinopathies are a genetic defect and therefore an inherited disorder, frequency depends on which particular hemoglobinopathy is being discussed, eg. in the case of Sickle cell disease, it is estimated that 7% of worlds population are carriers<br /> |[[File:Series_10-09.jpg|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease Tay Sachs Disease]<br /> |mutations on chromosome 15 in the HEXA gene <br /> |It is a rare autosomal recessive defect inherited from parents that are carriers for the disease. Affected individuals suffer from premature nerve cells death in the brain. &lt;ref&gt;&lt;pubmed&gt;20100466&lt;/pubmed&gt;&lt;/ref&gt;<br /> |Approx 1 in 300 are carriers<br /> |[[File:220px-Autorecessive.svg.png|right|200 px]]<br /> |-<br /> |}<br /> <br /> =Outcomes=<br /> <br /> Since CVS is able to detect a variety of chromosome abnormalities, there is a chance that the baby may be affected with a defect. If the test results are normal however, this does not exclude other congenital defects and neural tube defects that can occur that can be detected by other prenatal diagnosis methods. IF the test result is positive and a defect is detected by CVS, the mother has several options available. One is to terminate the pregnancy and the other is to seek treatment after the baby is born. If the mother chooses to terminate the pregnancy, doctors have a responsibility to educate the mother and offer counseling.<br /> <br /> Doctors should:<br /> <br /> *Give parents information about the defect so that they can be prepared.<br /> *Talk to parents about the baby's predicted quality of life.<br /> *Should explain any procedures that will be done to the baby after he is born.<br /> *Doctors should do their best to tell parents what the problem is and how serious it is.<br /> <br /> Abortion is the termination of pregnancy, with the removal of the fetus and placenta from the uterus. In Australia, abortion laws vary by state and usually allow this up to a range of about 12 - 20 weeks into the pregnancy, on the grounds of fetal abnormalities, endangerment of the mother and other socio-economic factors.&lt;ref&gt;Cica. N., 1998. Abortion Law in Australia. Parliament of Australia, Parliamentary Library. Accessed September 29. 2010. &lt;http://www.aph.gov.au/library/pubs/rp/1998-99/99rp01.htm&gt;&lt;/ref&gt; If the mother chooses to terminate the pregnancy, counselling is usually done to make sure the parents understand the issues and ethics surrounding abortion.<br /> There are currently two ways to perform an abortion:<br /> <br /> '''Surgical abortion -''' Also called suction aspiration, or suction currette, this is the most common procedure used for first trimester abortion(up to 12 weeks) The cervix is dilated, and a tube is inserted through the cervix and a suction removes the fetus and the placenta. A curette is then used to scrape the wall of the uterus to ensure any remains are not left inside. If later in pregnancy, other surgical techniques are used. <br /> <br /> '''Medical abortion -''' ''(Note: Not applicable in this case due to CVS being performed at 10-12 weeks.)''This involves administration of a drug called mifepristone (RU486). Available for abortions earlier than 2-9 weeks, it is a low-risk and effective method instead of the surgical method earlier in pregnancy. Usage of the drug is available in many countries but is currently restricted in Australia.<br /> <br /> ===Treatment===<br /> <br /> If the mother decides to continue on with the pregnancy, treatment options are necessary for the baby after birth to maintain the health and symptoms associated with a defect. Some of these management options for some of the defects will be discussed below. <br /> <br /> '''Down Syndrome'''<br /> <br /> Treatment and therapies for Down syndrome available include the physical, medical and cognitive problems associated with Down Syndrome. Medical treatment such as surgery or medications, while early intervention programs and therapies help babies and children achieve better quality of life. For example, children with Down Syndrome have a higher risk for having many conditions such as congenital heart defects, problems with the thyroid, muscles, joint, vision and hearing problems. Medications can be used to treat these different problems, such as if the thyroid is affected, a child will benefit from taking thyroid replacement hormones. Medications aim to control the symptoms and reduce the impact the condition will have on the baby. There is no medication that can cure chromosome abnormalities. Some individuals affected with cardiac and gastrointestinal problems may also need surgery soon after birth. Regular screening for vision problems, hearing, hypothyroidism, and other medical conditions should be performed.<br /> <br /> Cognitive development can be assisted with physiotherapy and speech therapy for example. Since children with Down Syndrome can have speech problems due to their relatively small mouths and large tongue, speech therapy can help the child to communicate properly. Physical therapy is often needed since individuals with Down Syndrome have hypotonia (low muscle tone)which needs to be improved by developing motor skills.<br /> <br /> '''Trisomy 13'''<br /> <br /> Since Trisomy 13 causes a range of serious complications like congenital heart disease and brain and spinal cord abnormalities, the survival rate is low, with a median survival time of 2.5 days. &lt;ref&gt;&lt;pubmed&gt;11310997&lt;/pubmed&gt;&lt;/ref&gt; Treatment is usually directed towards the specific symptoms that are present in the affected child, which differs to each individual. In some cases, treatment may include surgical procedures to correct cleft lip and palate, or surgery to correct heart defects. This will depend upon the severity and nature of the abnormalities and symptoms.&lt;Ref&gt;Stewart, K. B., 2007. Trisomy 13 - Patau Syndrome. [Fact sheet] Centre for Genetics Education. Accessed 29 September, 2010. &lt;http://www.genetics.com.au/pdf/factsheets/fs29.pdf&gt;&lt;/ref&gt;<br /> <br /> '''Cystic fibrosis'''<br /> <br /> There is currently no cure for cystic fibrosis, but various treatment methods can manage the symptoms of lung and digestive problems, liver and gallbladder diseases and infertility. Digestive problems can be corrected by having a diet that is low in fat and high in protein, with vitamin supplements. Regular antibiotics are prescribed to prevent and to treat lung infections, and mucolytics are needed to make the mucous less sticky. Other methods to dislodge and remove mucous is manual chest physiotherapy, where it consists of bronchial drainage done manually or mechanically. Manual drainage can be done by performing controlled breathing techniques or the chest is vibrated or clapped to dislodge the mucous out of the airways. &lt;ref&gt;&lt;pubmed&gt;18079549&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> '''Tay-sachs disease'''<br /> <br /> The prognosis for babies with the condition is usually poor, with children living to the age of 4-5.&lt;ref&gt;National Institute of Neurological Disorders and Stroke. 2007. Tay-Sachs Disease Information Page. Accessed September 29, 2010. &lt;http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm&gt;&lt;/ref&gt; Therefore treatment for Tay-sachs disease is usually to help alleviate symptoms associated with the disease. Spasticity and siezures can be helped by administering anticonvulsants, while other supportive methods include respiratory care to keep the airway open and proper nutrition and hydration.<br /> <br /> =Ethical concerns=<br /> <br /> =Current associated research=<br /> <br /> Chorionic Villus Sampling (CVS) is one of many prenatal diagnostic tools for expectant mothers, it is popular since it can be used to identify potential problems with a fetus at a very early stage. However, the procedure does carry some risks, as does any invasive diagnostic procedure. As chorionic villus sampling is a relatively new technique, made available for safe routine use only 20 years ago, the current associated research is mainly associated with risks associated with the procedure, and ways to overcome these risks. The next section in this page will discuss the current research on CVS and the risks involved in the procedure, and not what the test results may find. <br /> <br /> ====Hypertensive disorders of pregnancy====<br /> <br /> Hypertension, or high blood pressure, is a condition where systemic arterial blood presssure is elevated. Hypertension is one of the most common medical problem during pregnancy, affecting about 2-3% of pregnancies.&lt;ref&gt;Gibson, P., Carson, M.P, 2010. Hypertension and Pregnancy. Accessed 29 September, 2010. &lt;http://emedicine.medscape.com/article/261435-overview&gt;&lt;/ref&gt;<br /> Pregnancy induced hypertension is a condition that can occur during and after the 20th week of pregnancy. The types of hypertensive disorders can include:<br /> <br /> [[File:Enamel_Hypoplasia_Due_to_Maternal_Toxemia.jpg|thumb|200px|right|Enamel hypoplasia due to maternal toxemia]]<br /> <br /> *Pre-eclampsia or toxemia – Characterised as high blood pressure above 140/90 with proteinuria (protein in the urine that is above 300mg)<br /> * Eclampsia - Developed in a pregnant woman who has had pre-eclampsia and is characterised by seizures <br /> * Gestational hypertension – arterial hypertension that occurs after the 20th week of gestation <br /> <br /> If untreated, the condition may develop into HELLP syndrome which is a serious complication noted by hemolytic aneamia, elevated liver enzymes and a low platelet count. <br /> <br /> <br /> There has been conflicting evidence in literature that suggests that CVS is associated with hypertensive disorders in pregnancy such as pre-clampsia and gestational hypertension. In several studies, such as data from the National Institute of Health that compared late CVS procedures with early amniocentesis, showed a higher rite of gestational hypertension and preeclampsia in pregnant mothers.&lt;ref&gt;&lt;pubmed&gt;15738029&lt;/pubmed&gt;&lt;/ref&gt; (5.4% for mothers who had CVS and 3.5% that had amniocentesis.) It was hypothesized that disruption and disturbance of the placenta at 13-14 weeks may increase the risk of maternal hypertension. In addition, another recent study in 2006 also reported that there was an increase in the rate of pre-clampsia in first-time expectant mothers who have had CVS.&lt;ref&gt;&lt;pubmed&gt;19455602&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> However, in a very recent data investigation of among 9098 women that were pregnant between 1990 and 2006, the overall incidence of hypertensive disorders with women who have had CVS was 2.7% compared to the control group that did not have the procedure done which was 7.1%.&lt;ref&gt;&lt;pubmed&gt;19918960&lt;/pubmed&gt;&lt;/ref&gt; Similarly, in a study conducted by The American College of Obstetricians and Gynecologists,&lt;ref&gt;&lt;pubmed&gt;20664398&lt;/pubmed&gt;&lt;/ref&gt; 31, 138 women were that were included in the investigation showed that 2.2% developed preeclampsia and 2.8% developed gestation hypertension. Only 7.8% of those individuals had previously had CVS procedure performed. <br /> <br /> Although it can be said that some woman may develop hypertensive disorders during pregnancy that have also had the CVS procedure done in the past, there is no conclusive evidence so far that definitively associates CVS with hypertensive disorders such as pre-clampsia and gestation hypertension.<br /> <br /> ====Malformations====<br /> [[File:Craniosynostosis_.jpg|right|250 px]]<br /> <br /> <br /> Many malformations were thought to be a result of more invasive prenatal diagnostic techniques such as chorionic villus sampling. These malformations include, but are not limited to, cardiac malformations, hypospadias, craniosynostosis, pyloric stenosis, inguinal hernia, polydactyly, syndactyly, hydrocephalus and cleft lip and palate. Although these studies have now confirmed no known relationship with CVS, we will mention some below. &lt;ref&gt;&lt;pubmed&gt;7937577&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> '''Craniosynostosis''' is a condition where one of the sutures of the skull prematurely fuses, this causes the other sutures to compensate in growth for the fused suture. In normal development of the skull, the sutures allow for brain growth, so if one suture fuses prematurely, the brain can not grow normally, and the other sutures over expand in compensation. In the shown image, pictures a1 and a2 show the normal development and fusing of the infant skull. b2 shows how a suture is prematurely fused and b1 shows how the abnormality shows in an infant child.<br /> Craniosyntosis may result in increased pressure on the brain and developmental delays. Treatment of craniosynostosis usually consists of surgery to the skull where a zigzag incision is made to make the hair look more natural than the scar left by a straight incision. The surgery separates the sutures that have joined together to allow the head to develop normally.<br /> <br /> &lt;ref&gt;Silver, R.K., Macgregor, S.N., Muhlbach, L.H., Knutel, T.A. &amp; Kambich, M.P. 1994, &quot;Congenital malformations subsequent to chorionic villus sampling: Outcome analysis of 1048 consecutive procedures&quot;, Prenatal diagnosis, vol. 14, no. 6, pp. 421-427. &lt;/ref&gt;<br /> <br /> [[File:Polydactyly.jpg|left|200 px]]<br /> '''Polydactyly''' is a congenital condition where an extra digit is formed. Mostly it occurs on only one hand or foot, but sometimes can occur on all limbs. The extra digit is mostly a small non-function appendage of skin, less often it is an extension of the adjacent digit, and rarely it is a fully functioning finger that arises from the wrist or ankle joint like the other digits. Polydactyly can be described as: <br /> <br /> ● postaxial polydactyly (arising from the little finger)<br /> <br /> ● preaxial polydactyly (arising from the thumb) or<br /> <br /> ● central polydactyly (arising from anywhere between the other digits)<br /> <br /> Polydactyly is seen in 1 in every 500 births, but the extra digit is usually surgically removed shortly after birth<br /> &lt;ref&gt;&lt;pubmed&gt;20661588&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> [[File:Syndactyly2.JPG|left|200 px]]<br /> '''Syndactyly''' is also a congenital condition, but is seen when digits are fused together. Syndactyly can be described as:<br /> <br /> ● simple syndactyly (where only skin is fused to the adjacent finger)<br /> <br /> ● complex syndactyly (where the bone is fused together)<br /> <br /> ● incomplete syndactyly (where fusion is only part of the way up the digit), and,<br /> <br /> ● complete syndactyly (where fusion is to the tip of the digit)<br /> <br /> The picture on the left shows an example of polysyndactyly, where the digits are both fused, and there is an extra digit.<br /> &lt;ref&gt;&lt;pubmed&gt;20811188&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> <br /> <br /> <br /> <br /> ====Hemangiomas====<br /> <br /> [[File:Capillary_haemangioma.jpg|thumb|200px|right|Hemangioma]]<br /> <br /> A hemangioma is a benign tumour growth of endothelial cells that can occur in newborns and infants. Hemangiomas can occur anywhere in the body but are often localised on the skin of the face and neck, and are characterised by a red to reddish purple raised lesion on the skin, similarly to a &quot;strawberry&quot; like appearance. Its red appearance is due to the newly formed blood vessels, which result from the malformation of angioblastic tissues of fetal life.&lt;ref&gt;&lt;pubmed&gt;7063565&lt;/pubmed&gt;&lt;/ref&gt; <br /> Most hemangiomas do not cause any serious complications, and regress later on in life, where 90% of hemangiomas in children would disappear by the age of 9. <br /> <br /> Recently, research has linked the increase in the incidence of hemangiomas in infants following CVS. It has been postulated that the mechanism of hemangioma formation is associated with the embolisation of angioblasts or endothelial cells from the placenta to the fetal skin.&lt;ref&gt;&lt;pubmed&gt;19218861&lt;/pubmed&gt;&lt;/ref&gt; Although this may link hemangiomas to placental origin, it is unclear how, or whether CVS directly interferes or enhances the formation of these lesions. However, a recent study that compared the effects of CVS and amniocentesis on the prevalence of hemangiomas in infants showed that 27% of the study group had hemangiomas with CVS compared to 9.4% in children with hemangiomas and amniocentesis. &lt;ref&gt;&lt;pubmed&gt;20824891&lt;/pubmed&gt;&lt;/ref&gt; Furthermore, in an previous study conducted in 1995, there was a threefold increase in incidence after trancervical procedure was done, compared to amniocentesis.&lt;ref&gt;Lo, K., Mihm, M. &amp; Fay, A. 2009, &quot;Current Theories on the Pathogenesis of Infantile Hemangioma&quot;, Seminars in ophthalmology, vol. 24, no. 3, pp. 172-177. &lt;/ref&gt;&lt;ref&gt;&lt;pubmed&gt;7784377&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> =Future of Chorionic Villus Sampling and Prenatal diagnosis techniques=<br /> <br /> [[File:FISH_(technique).gif‎|thumb|250 px|FISH technique]]<br /> <br /> Prenatal diagnosis has been used to detect chromosomal abnormalities, especially Down’s syndrome, for over 30 years. As we have discussed on this page, the most common forms of prenatal diagnosis are amniocentesis, CVS and ultrasound. The type of test used depends on the history of the parents, any abnormalities detected in the initial ultrasound examination, and preferences of the parents. Testing for chromosomal abnormalities using amniocentesis and CVS is invasive and somewhat time consuming. Some recent advancements in this field include the use of fluorescence in situ hybridisation (FISH), quantitative fluorescence-PCR techniques , and comparative genomics. Although these techniques are currently still invasive, the waiting time for these tests is usually only 1 to 2 days for chromosomal abnormalities. &lt;ref&gt;&lt;pubmed&gt;20014413&lt;/pubmed&gt;&lt;/ref&gt; This waiting time would mean a much less stressful waiting period for the parents. The future of prenatal diagnosis certainly lies in the field of non invasive techniques, and research in the field of prenatal diagnosis is looking toward making detection of abnormalities non invasive, using the fetal cells from maternal circulation. &lt;ref&gt;&lt;pubmed&gt;20014413&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> '''Fluorescence in situ hybridisation (FISH):''' FISH is a cytogenetic technique, involving analysing the number and shape of the chromosomes of cells. FISH detects the addition or deletion of specific DNA sequences on chromosomes using florescent probes that bind to a similar sequence of chromosomes. Once the florescence probes are attached, fluorescence microscopy is used to view the chromosomes and detect the abnormality. [http://en.wikipedia.org/wiki/Fluorescent_in_situ_hybridization More about FISH]<br /> <br /> '''Quantitative fluorescence-PCR techniques:'''<br /> <br /> '''Comparative genomics:'''<br /> <br /> =Useful links=<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Wikipedia'''[http://en.wikipedia.org/wiki/Chorionic_villus_sampling Chorionic villus sampling]<br /> <br /> '''Fact sheets''' [http://www.thewomens.org.au/ChorionicVillusSamplingCVS Chorionic villus sampling]<br /> <br /> '''Images''' [http://www.google.com.au/images?q=chorionic+villus+sampling&amp;oe=utf-8&amp;rls=org.mozilla:en-US:official&amp;client=firefox-a&amp;um=1&amp;ie=UTF-8&amp;source=univ&amp;ei=yCWcTKT-NsircY-nzNEJ&amp;sa=X&amp;oi=image_result_group&amp;ct=title&amp;resnum=4&amp;ved=0CD4QsAQwAw&amp;biw=1280&amp;bih=615 Chorionic villus sampling]<br /> <br /> '''You tube video of procedure''' [http://www.youtube.com/watch?v=0XUZsvTkEnw Chorionic villus sampling]<br /> <br /> =Glossary=<br /> <br /> '''Amniocentesis''' - A prenatal diagnostic test involving sampling of amniotic fluid by needle aspiration for genetic analysis.<br /> <br /> '''Amnion''' - An extraembryonic membrane ectoderm and extraembryonic mesoderm in origin and forms the innermost fetal membrane, produces amniotic fluid. This fluid-filled sac initially lies above the trilaminar embryo disc and with embryoic disc folding this sac is drawn ventrally to enclose (cover) the entire embryo, then fetus.<br /> <br /> '''Amniotic cavity''' - The fluid-filled (amniotic fluid) extraembryonic coelom (cavity) formed initially by epiblast and then ectoderm and surrounding extraembryonic mesoderm. In humans, it forms the innermost fetal membrane, produces amniotic fluid expanding to fuse with the chorionic membrane during week 8 of development.<br /> <br /> '''Amniotic fluid''' - The fluid that fills amniotic cavity totally encloses and cushions the embryo.<br /> <br /> '''Cannula''' - A flexible medical tube with a sharp-pointed part at one end that is inserted into a duct, vein, or cavity in order to drain away fluid or to administer drugs<br /> <br /> '''Chorion''' - The extraembryonic membrane generated from trophoblast and extraembryonic mesoderm that forms placenta. chorion and amnion are made by the somatopleure. The chorion becomes incorporated into placental development. The avian and reptilian chorion lies beside the egg shell and allows gas exchange.<br /> <br /> '''Chorionic villus sampling (CVS)''' - The taking a biopsy of the placenta, usually at the end of the second month of pregnancy, to test the fetus for genetic abnormalities.<br /> <br /> '''Chromosome''' - double stranded DNA coiled around histones. Condenses during mitosis and meiosis.<br /> <br /> '''Ectoderm''' - One of the initial 3 germ cell layers, which will form the nervous system from the neural tube and neural crest and also generates the entire epithelial layer of the skin covering the embryo.<br /> <br /> '''Endoscope''' - a long slender medical instrument for examining the interior of a bodily organ or performing minor surgery<br /> <br /> '''Endoderm''' - One of the initial 3 germ cell layers (ectoderm, mesoderm and endoderm) formed by the process of gastrulation. The endoderm forms as a cuboidal epithelium and contributes not only to the trilaminar embryo, but also lines the yolk sac. It will form the entire epithelial lining of the gastrointestinal tract (GIT), contribute to the accessory organs of GIT and also forms the epithelial lining of the respiratory tract.<br /> <br /> '''Fetus''' - In mammals, term describes the period of development following the embryonic period. In humans, the development week 9 to 36 is the fetal stage (second and third trimester). (see fetal period above). This term is also used non-scientifically to describe the human conceptus at both embryonic and fetal stages of development.<br /> <br /> '''Gene''' - A DNA sequence that is transcribed as a single unit and encodes a single polypeptide (protein) or a set of closely related polypeptides. There are approximately 20,000-25,000 protein encoding genes in the human genome. In each cell, DNA is found within the nucleus and also within mitochondria.<br /> <br /> '''Gestation''' - The period of time from conception to birth. A pregnancy with multiple fetuses is referred to as a multiple gestation.<br /> <br /> '''Mesoderm''' - The middle layer of the 3 germ cell layers of the trilaminar embryo.<br /> <br /> '''Miscarriage''' - A general clinical term for the loss of embryo or fetus by spontaneous abortion.<br /> <br /> '''Mitosis''' - The normal division of all cells, except germ cells, where chromosome number is maintained (diploid). <br /> <br /> '''Prenatal diagnosis''' - any of the diagnostic procedures used to determine whether a fetus has a genetic abnormality<br /> <br /> '''Tenaculum''' - instrument used to grasp the cervix and keep the uterus in place during gynecological procedures.<br /> <br /> '''Termination''' - The spontaneous or artificially induced expulsion of an embryo or fetus. As used in legal context, the term usually refers to induced abortion.<br /> <br /> '''Transabdominal''' - In the transabdominal CVS technique, the physician inserts a needle through the abdomen into the placenta. This is also done with ultrasound, to guide the physician<br /> <br /> '''Transcervical''' - In the transcervical CVS technique, the physician inserts a small tube through the cervix into the placenta. This is done while ultrasound guides the physician<br /> <br /> '''Ultrasound''' - A non-invasive technique for visualizing and prenatal diagnosis of several features of development including: follicles in the ovaries, the gestational sac, fetus in the uterus, fetal parameters, and the placenta. The technique uses high-frequency sound waves that are reflected off internal structures. These reflections can then be analysed and displayed by computer.<br /> <br /> '''Villi''' - Plural of villus, which is a thin projection from a surface. A term used to describe the many functional units together of the fetal placenta. <br /> <br /> '''Vitelline arteries and veins''' - The blood vessels which form in the extraembryonic mesoderm of the yolk sac and anastomose are called vitelline arteries (flow away from the embryo) and vitelline veins (flow toward the embryo).<br /> <br /> ==Prenatal Diagnosis Terms==<br /> <br /> '''false negative rate''' - The proportion of pregnancies that will test negative given that the congenital anomaly is present.<br /> <br /> '''false positive rate''' - The proportion of pregnancies that will test positive given that the congenital anomaly is absent.<br /> <br /> '''negative predictive value''' - The probability that a congenital anomaly is absent given that the prenatal screening test is negative.<br /> <br /> '''positive predictive value''' - The probability that a congenital anomaly is present given that the prenatal screening test is positive.<br /> <br /> '''pre-implantation genetic diagnosis''' - (PGD) a screening procedure for embryos produced through in vitro fertilisation (IVF) for genetic diseases that would generate developmental abnormalities or serious postnatal diseases.<br /> <br /> '''prenatal screening sensitivity''' - (detection rate) The probability of testing positive on a prenatal screening test if the congenital anomaly is present.<br /> <br /> '''prenatal screening specificity''' - The probability of testing negative on a prenatal screening test if the congenital anomaly is absent.<br /> <br /> <br /> ==Glossary Links==<br /> <br /> :[[A|A]] | [[B|B]] | [[C|C]] | [[D|D]] | [[E|E]] | [[F|F]] | [[G|G]] | [[H|H]] | [[I|I]] | [[J|J]] | [[K|K]] | [[L|L]] | [[M|M]] | [[N|N]] | [[O|O]] | [[P|P]] | [[Q|Q]] | [[R|R]] | [[S|S]] | [[T|T]] | [[U|U]] | [[V|V]] | [[W|W]] | [[X|X]] | [[Y|Y]] | [[Z|Z]] | [[Numbers|Numbers]]<br /> <br /> =References=<br /> &lt;references/&gt;<br /> <br /> == 2010 ANAT2341 Group Projects ==<br /> <br /> [[2010_Group_Project_1|Project 1 - Ultrasound]] | [[2010_Group_Project_2|Project 2 - Chorionic villus sampling]] | [[2010_Group_Project_3|Project 3 - Amniocentesis]] | [[2010_Group_Project_4|Group Project 4 - Percutaneous Umbilical Cord Blood Sampling]] | [[2010_Group_Project_5|Project 5 - Fetal Fibronectin]] | [[2010_Group_Project_6|Project 6 - Maternal serum alpha-fetoprotein]] | [[ANAT2341_2010_Students|Students Page]]<br /> <br /> <br /> {{Template:Footer}}<br /> [[Category:2010ANAT2341]] [[Category:Science-Undergraduate]]</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=2010_Group_Project_2&diff=39547 2010-10-06T02:47:09Z

<p>Z3265772: /* Future of Chorionic Villus Sampling and Prenatal diagnosis techniques */</p> <hr /> <div>[[File:Embryo_11-14_weeks.jpg|right|400 px]]<br /> <br /> ='''Chorionic Villus Sampling (CVS)'''=<br /> <br /> =Introduction=<br /> <br /> [[Image:Gray31.png|thumb|350px|right|Grays]]<br /> <br /> <br /> Chorionic villus sampling or CVS is a type of prenatal diagnosis test performed in the first trimester to detect major fetal abnormalities such as down syndrome, cystic fibrosis and tay-sachs disease, among many others. In the procedure, tissue is withdrawn from small finger like projections on the placenta called chorionic villi and tested for chromosomal defects. It is commonly performed between 10 and 12 weeks of pregnancy. <br /> The advantage of CVS over other procedures is that the result is available approx 6 weeks earlier in the pregnancy, so if a termination is needed, it can be done earlier which is much safer, rather than later in the pregnancy, which can carry more risks. &lt;ref&gt;Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., de, l.C., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Lubs, H.A., Mahoney, M.J., Pergament, E., Simpson, J.L., Carpenter, R.J., Elias, S., Ginsberg, N.A., Goldberg, J.D., Hobbins, J.C., Lynch, L., Shiono, P.H., Wapner, R.J. &amp; Zachary, J.M. 1989, &quot;The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities&quot;, New England Journal of Medicine, vol. 320, no. 10, pp. 609-617.&lt;/ref&gt;<br /> <br /> ''Reasons for getting chorionic villus sampling can include:''<br /> <br /> -History of genetic disorders in the family<br /> <br /> -Parents have already had a child with a disorder such as down syndrome or cystic fibrosis<br /> <br /> -Abnormal ultrasound result<br /> <br /> -Maternal age of 35 or older, which increases the risk of chromosomal defects such as down syndrome<br /> <br /> <br /> =Historic background=<br /> <br /> <br /> '''Brief timeline of CVS use'''<br /> <br /> *1968 - Mohr in Scandinavia introduced the concept of prenatal diagnosis using chorionic villi sampling &lt;ref&gt;&lt;pubmed&gt;5691288&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1973 - Kullander and Sandahl and Hahnemann in 1974 showed further study into chromosomal analysis from CVS &lt;ref&gt;&lt;pubmed&gt;4766093&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1975 - from the Department of Obstetrics and Gynaecology at the Tietung Hospital in Anshan, China was successful in using CVS to determine sex of fetuses for sex pre selection. &lt;ref&gt;&lt;pubmed&gt;811431&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1980 - Kazy et al. were the first to use ultrasound guidance during chorionic villi sampling. &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1981 - Niazi et al. improved methods for culturing of fibroblasts from trophoblast villi. &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1983 - Ward performed transcervical CVS with 67% success rate. In the same year, the Brombati group demonstrated and 96% success rate with obtaining villi with the aid of ultrasound guidance &lt;ref&gt;&lt;pubmed&gt;6463023&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1984 - Smidt-Jensen and Hahnemann introduced transabdominal CVS under ultrasound guidance &lt;ref&gt;&lt;pubmed&gt;4088973&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1986 - The Golbus group had a 3.8% miscarriage rate, and subsequently many other clinics started reporting a much lower rate of miscarriage at 1.7% making the procedure safe for routine use &lt;ref&gt;&lt;pubmed&gt;3717235&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> ===Jan Mohr (1921-2009)===<br /> [[Image:Jan_Mohr.jpg|thumb|200px|left|Jan Mohr]]<br /> <br /> <br /> '''1968 -- Concept of CVS introduced'''<br /> <br /> In 1968 Jan Mohr introduced the concept of prenatal diagnosis using the CVS technique. &lt;ref&gt;&lt;pubmed&gt;5691288&lt;/pubmed&gt;&lt;/ref&gt; He used the transcervical method to get a biopsy of the chorion using an endoscope as the source of vision. The current technique differs by using mostly transabdominal access with ultrasound instead of an endoscope. He reported a 96% success rate in obtaining chorionic material but with a high incidence of bleeding and infection. The approach was abandoned as amniocentesis became more popular due to higher safety levels<br /> <br /> <br /> <br /> '''1973-1975 -- Further study into chromosomal analysis from CVS'''<br /> <br /> Kullander and Sandahl in 1973 and Hahnemann in 1974 further researched fetal chromosome analysis using transcervical biopsy before termination in early pregnancies. &lt;ref&gt;&lt;pubmed&gt;4766093&lt;/pubmed&gt;&lt;/ref&gt; In 1975 the first successful diagnostic use of chorionic villi was reported at the Tietung Hospital in China. &lt;ref&gt;&lt;pubmed&gt;811431&lt;/pubmed&gt;&lt;/ref&gt; This is where fetal sex was diagnosed for the purpose of sex pre-selection. They claimed to have 94% diagnosis success and only 4% miscarriage rate. Researchers in the United States were, however unable to duplicate the results and so the idea of CVS diagnosis was again abandoned for some time.<br /> <br /> <br /> '''1980-1983 -- Change from endoscopic examination to ultrasound to guide CVS'''<br /> <br /> With the invention of the ultrasound and advancement in molecular genetics, an earlier prenatal diagnosis was now sought after. So Kazy et al. in 1980, began using both the endoscope and the ultrasound for fetal sexing on chorion biopsies. This was the first report of using ultrasound guidance during chorion sampling. After Kazy et.al. began using the ultrasound for guidance, many others followed. Niazi et al., Ward and the Brombati group all started using ultrasound guided CVS. Techniques quickly improved and success rate of obtaining chorionic material rose from 75% to 96% &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> '''1984-1986 -- The introduction of transabdominal CVS'''<br /> <br /> In 1984, Smidt-Jensen and Hahnemann in Copenhagen introduced transabdominal CVS using ultrasound guidance. &lt;ref&gt;&lt;pubmed&gt;6463023&lt;/pubmed&gt;&lt;/ref&gt; With less chance of infective complications the procedure has become more popular than the transcervical method in many prenatal diagnostic centers. Other ultrasonic techniques and modifications were explored by the Brambati and Simoni group and the Golbus group in 1985. &lt;ref&gt;&lt;pubmed&gt;4088973&lt;/pubmed&gt;&lt;/ref&gt; The Golbus group reported in 1986 a miscarriage rate of 3.8%. &lt;ref&gt;&lt;pubmed&gt;3717235&lt;/pubmed&gt;&lt;/ref&gt; Subsequently, many other centres reported a much lower miscarriage rate of 1.5% which made the procedure safe for routine use.<br /> <br /> ==Table Comparing Prenatal Diagnosis Techniques==<br /> <br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ This table shows invasiveness and timeframe for some prenatal diagnostic techniques<br /> ! Invasiveness !! Diagnostic technique !! Comments !! Time that procedure can be performed !! Diagram<br /> |-<br /> |Non Invasive<br /> |[[2010_Group_Project_1|Ultrasound]]<br /> |'''Tests for:''' neural tube defects, chromosomal abnormalities and congenital heart abnormalities<br /> <br /> '''Risks:''' No risks currently indicated for ultrasound use in prenatal diagnosis. <br /> <br /> This test uses high frequency sound waves through a transmitting device, which construct a picture of the fetus when the waves are reflected and received back by the transmitter. Due to no known risks, ultrasound use is used routinely in pregnancies and is the first port of call for prenatal diagnosis. If a potential abnormality is found or the parents are high risk, then a more invasive diagnostic technique may be recommended. The type of diagnostic technique used depends on the potential abnormality found. &lt;ref&gt;Kremkali, F.W. (2006) Diagnostic Ultrasound Principles and Instruments (7th ed.) St Louis: Saunders Elsevier. pp3-5&lt;/ref&gt;[[2010_Group_Project_1|More about Ultrasound]]<br /> |Weeks 18-20<br /> |[[File:ZConvex_Array_Transducer.jpg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> |'''Tests for:''' chromosomal abnormalities and genetic abnormalities <br /> <br /> '''Risks:''' Miscarriage (1%), some of the side effects include dizziness, abdominal discomfort, cramping, haemorrhage, infection, ruptured amniotic sac, increased risk of limb defects if the test was performed at nine weeks’ gestation or earlier &lt;ref&gt;Alfirevic, Z., K. Sundberg, et al. 2008. &quot;Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review).&quot; Cochrane Database of Systematic Reviews 4: 1-134.&lt;/ref&gt;<br /> <br /> With the guidance of Ultrasound, a needle is inserted in to the abdomen or through the cervix and a small sample of chorionic villi from the placenta are obtained. This sample is sent to a cytogenetics laboratory where the cells are cultured and stained, and photographed to view chromosomes <br /> |Weeks 10-12<br /> |[[File:Transabdominal_CVS.jpg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_3|Amniocentesis ]] <br /> |'''Tests for:''' chromosomal abnormalities, fetal infections, and genetic abnormalities<br /> <br /> '''Risks:''' Miscarriage &lt;1%, stillbirths 3%, and small risk of infection. &lt;ref&gt;&lt;pubmed&gt;PMC2464303&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> A needle is inserted in to the uterus where a sample of the amniotic fluid surrounding the fetus is taken. This procedure is usually done with the guidance of ultrasound so the physician can see where the needle is being inserted. The amniotic fluid is analysed for abnormalities. [[2010_Group_Project_3|More about Amniocentesis ]]<br /> |Weeks 15-16<br /> |[[File:Process_of_amniocentesis.jpeg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_4|Percutaneous Umbilical Cord Blood Sampling]]<br /> |'''Tests for:'''chromosomal abnormalities, blood disorders, some metabolic disorders, fetal infections, and some causes of structural problems.<br /> <br /> '''Risks:'''Miscarriage &lt;2%, Preterm labour, fetal bradycardia, bleeding of the umbilical cord. &lt;ref&gt;&lt;pubmed&gt;16530195&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> A small needle is inserted in to the abdomen of the mother and a sample of blood is taken from the umbilical vein in the umbilical cord. This technique is often used when other diagnostic techniques are inconclusive, but should be used with caution as carries higher risk rates. The benefit of Percutaneous Umbilical Cord Blood Sampling is that the results are available much faster, within 72 hours of testing. CVS and amniocentesis tests need culturing and therefore take up to 11 days for a result. [[2010_Group_Project_4|More about Percutaneous Umbilical Cord Blood Sampling]]<br /> |Weeks 18-22<br /> |[[File:Placenta_Anterior.jpg|right|150 px]]<br /> |-<br /> |Less Invasive<br /> |[[2010_Group_Project_5|Fetal Fibronectin]]<br /> |'''Tests for:'''determines the likelihood of premature birth in women of high risk<br /> <br /> '''Risks:'''No known risks for the testing of Fetal Fibronectin, as is it less invasive than other techniques.<br /> <br /> Fetal Fibronectin is only found in the uterus until the onset of labour when is secretes in through the cervix. In this procedure, a sample of the cervico-vaginal secretions are taken and sent to the lab for testing. If the test comes out positive for Fetal Fibronectin in the vagina, the mother has a chance of going into premature labour. [[2010_Group_Project_5|More about Fetal Fibronectin]]<br /> |Weeks 24-34<br /> |[[File:FetalFN.jpg|right|150 px]]<br /> |-<br /> |Non Invasive<br /> |[[2010_Group_Project_6|Maternal serum alpha-fetoprotein]]<br /> |'''Tests for:'''AFP is a type of screening test and do not diagnose problems, but signal whether further testing is needed. Normal AFP levels are increased in Neural Tube Defects and Omphalocoele &amp; decreased in Down Syndrome.<br /> <br /> '''Risks:'''No known risks as Maternal serum alpha-fetoprotein is non invasive<br /> <br /> A blood sample is taken from the mother and alpha-fetoprotein levels are measured in the lab. These measurements can determine the risk level of certain abnormalities in the fetus. The advantage is that it is non invasive, but the disadvantage is that it has a very high false positive rate, so many mothers have gone on to have amniocentesis or chorionic villus sampling to find nothing is wrong with the baby. This can be overcome by having another alpha-fetoprotein test before getting amniocentesis or chorionic villus sampling. [[2010_Group_Project_6|More about Maternal serum alpha-fetoprotein]]<br /> |Weeks 15-20<br /> |[[File:Enzyme_immunoassay.jpg|right|150 px]]<br /> |-<br /> |}<br /> <br /> =Description of technique=<br /> [[File:Gray37.png|right|thumb|280px|Sample is taken from the chorionic villi]]<br /> [[File:transabdominal_CVS.jpg|right|thumb|280px|Transabdominal Technique]]<br /> [[File:transcervicalCVS.jpg|right|thumb|280px|Transcervical Technique]]<br /> <br /> The CVS procedure involves taking a sample of the chorion frondosum — the part of the chorionic membrane containing the villi. Between 10-12 weeks of pregnancy, the developing gestational sac is composed of a thick, outer chorionic membrane surrounding the amniotic cavity, a thin amniotic membrane and the chorionic cavity. The chorionic villi have now degenerated over most of the outer membrane, forming the chorion laeve, and the remaining villi fuses and embeds loosely into the decidua basalis. This forms the chorion frondosum, which will ultimately become the placenta. At this stage, the villi float freely in the blood of the intervillus space. Each villi is branched, and is composed of an outer syncytiotrophoblast and an inner cytotrophoblast layer. Within the centre of each villus is a mesenchymal core which contain capillaries carrying fetal blood. In CVS, usually samples of both cells lines (cytotrophoblasts and mesenchymal cells) are obtained. Chromosomal analysis of these cell lines can be performed by means of direct preparations, short-term cultures (cytotrophoblasts), or long-term cultures (mesenchymal cells) of the chorionic villi.&lt;ref&gt;Jenkins, T.M, Wapner, R.J, 1999. First trimester prenatal diagnosis: Chorionic villus sampling. Seminars in Perinatology. pp403-413.&lt;/ref&gt; <br /> <br /> CVS can be performed in two ways, through the cervix (transcervical) or through the abdomen (transabdominal). Both techniques are equally safe when performed by an experienced technician, however miscarriage rates are somewhat higher when done through the cervix. Prior to the procedure, an abdominal ultrasound can be performed to locate the position of the uterus, and the placenta. A full bladder is not required. Depending on the type of method performed, the vulva, vagina, cervix or abdomen are cleaned with antiseptic. The procedure normally takes only 1-2 minutes to perform and the patient is able to leave the clinic within the hour after the fetus is checked.&lt;ref&gt;Melbourne Ultrasound for Women. Chorionic Villus Sampling. Accessed 5 September 2010. http://www.nevdgp.org.au/info/melb_us/cvs_melb.htm&lt;/ref&gt; <br /> <br /> ===Transabdominal Procedure===<br /> <br /> # A local anaesthetic is first applied to the abdomen.&lt;br&gt;<br /> # A thin hollow needle is then inserted through the abdomen into the uterus and into the edge of the placenta where the chorion is located. An ultrasound transducer is commonly used to guide the needle during the procedure. &lt;br&gt;<br /> # A finer syringe needle is then passed through the outer needle, and the tissue is then drawn.&lt;br&gt;<br /> # The sample is taken to the laboratory for testing. <br /> <br /> ===Transcervical Procedure===<br /> # A speculum is inserted in the vagina and the area is cleaned with antiseptic.&lt;br&gt;<br /> # With the help of ultrasound imaging, a thin cannula is then inserted through the cervix and uterus and into the placenta.&lt;br&gt;<br /> #The tissue sample is then taken up through the cannula.&lt;br&gt;<br /> &lt;ref&gt;&lt;pubmed&gt;20154617&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> After the sample is taken to the laboratory, the cells are grown until there are enough cells for chromosome testing. The results normally take up to 2 weeks to complete.<br /> <br /> ===Complications===<br /> <br /> Some of the side effects and complications after a CVS procedure can include:<br /> <br /> * Dizziness <br /> * Abdominal discomfort<br /> * Cramping<br /> * Haemorrhage<br /> * Infection<br /> * Ruptured amniotic sac<br /> * Increased risk of limb defects if the test was performed at nine weeks’ gestation or earlier<br /> * Premature delivery<br /> &lt;ref&gt;Alfirevic, Z., K. Sundberg, et al. 2008. &quot;Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review).&quot; Cochrane Database of Systematic Reviews 4: 1-134.&lt;/ref&gt;<br /> <br /> Additional complications can involve technical errors such as failure of the specimen to grow sufficiently in the laboratory and uncertain laboratory results. If this occurs, amniocentesis is still an option after 15 weeks.<br /> <br /> ===Results and Accuracy===<br /> <br /> The accuracy of CVS to detect chromosome abnormalities is quite high, at around 98-99% &lt;ref&gt;Hall, Judith G. &quot;Chromosomal Clinical Abnormalities.&quot; In Nelson Textbook of Pediatrics. Edited by Richard E. Behrman et al. Philadelphia: Saunders, 2004.&lt;/ref&gt;. Although it has a high accuracy rate to diagnose most major chromosomal problems, CVS does have some limitations. Having a negative result for an abnormality does not rule out ALL genetic defects the baby may have. Comparatively to amniocentesis, CVS does NOT detect neural tube defects such as spina bifida, or anencephaly. <br /> The type of chromosome abnormalities detected by CVS will be further discussed in detail below.<br /> <br /> ===Limitations===<br /> [[file:Double_tetrasomy_18_mosaicism.jpg‎|thumb|250 px|Example of a child with double tetrasomy 18+ mosaicism.]]<br /> <br /> '''Maternal contamination'''<br /> <br /> Since the villus sample also involves maternal cells, there is a possibility that they may take over the laboratory culture instead, consequently leading to the mother's cells being tested instead of the fetus's cells. The risk of this happening is low however and is decreased when the sample contains an adequate amount of fetal cells.<br /> <br /> <br /> '''Mosaicism'''<br /> <br /> &quot;Mosaicism&quot; occurs when both abnormal and normal cells are found in the chorionic villi. Mosaicism can involve both the fetus (true fetal mosaicism) and the placental tissues or the placental tissues alone. When this happens, cells that multiply from these abnormal cells may develop a chromosome anomaly.<br /> What can result is that in certain body organs the fetus has a combination of cells that are abnormal and normal in genetic structure. <br /> The rate of the placental type occuring is found in 1-2% of pregnancies detected by CVS.&lt;ref&gt;&lt;pubmed&gt;9316125&lt;/pubmed&gt;&lt;/ref&gt; When mosaicism is detected by CVS, the limitation lies in the inability to conclude that the baby itself and not just the placental tissues will share the mosaicism. Even if the baby is affected, it will be unclear as to what percentage of the fetal cells and the type of organs that will be affected.&lt;ref&gt;Trofatter. K.F. 2008. Chromosomal Mosaicism Detected at the Time of Chorionic Villus Sampling. Accessed on 15 September 2010. http://www.healthline.com/blogs/pregnancy_childbirth/2008/03/chromosomal-mosaicism-detected-at-time.html&lt;/ref&gt;<br /> <br /> =Risks=<br /> <br /> <br /> When Chorionic Villus Sampling is performed, a small sample of the placenta is removed for analysis. The placenta contains fetal material, therefore can reveal genetic defects which may lead to problems or abnormalities. &lt;ref&gt;&lt;pubmed&gt;20664398&lt;/pubmed&gt;&lt;/ref&gt; This prenatal test can be performed as early as 11 weeks into the pregnancy, this is earlier than many prenatal diagnosis tests, which is why many parents choose CVS as they can have solid information earlier in the pregnancy. Some common risks which are not under current research include: Cramping, light blood spotting, pain, fever and chills, leakage (which can be a major concern as it can lower amniotic fluid to a dangerous level for the infant), and potential for missing fingers and toes in the newborn. For this reason, the procedure is only recommended for women who are at least 11 weeks pregnant. &lt;ref&gt;&lt;pubmed&gt;20051662&lt;/pubmed&gt;&lt;/ref&gt; The other major risks that are currently being researched are outlined below<br /> <br /> ====Transabdominal vs Transcervical CVS. Comparison of risks====<br /> <br /> <br /> [[File:CVS_Table.jpg|left|thumb|280px|Transabdominal vs Transcervical risks]]<br /> <br /> This table shows the symptoms of women approximately 3 days after sampling. The table shows women who had undergone transcervical sampling had higher frequencies of fluid leakage, vaginal spotting, and bleeding. When a tenaculum is not used, the frequency of vaginal spotting and bleeding persisted in the transcervical-sampling group. Only two women, both in the transcervical-sampling group, had a temperature above 38°C. &lt;ref&gt;Jackson, L.G., Zachary, J.M., Fowler, S.E., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Mahoney, M.J., Pergament, E., Simpson, J.L., Black, S. &amp; Wapner, R.J. 1992, &quot;A Randomized Comparison of Transcervical and Transabdominal Chorionic-Villus Sampling&quot;, New England Journal of Medicine, vol. 327, no. 9, pp. 594-598.&lt;/ref&gt;<br /> <br /> <br /> ====Miscarriage====<br /> <br /> One of the biggest risks of Chorionic Villus Sampling is miscarriage. In one to 100 or 200 cases, the procedure is linked with miscarriage. &lt;ref&gt;&lt;pubmed&gt;19155918&lt;/pubmed&gt;&lt;/ref&gt; In an experienced clinic, this rate may go down to one in 300 to 400. To lower the risk of miscarriage with Chorionic Villus Sampling, it is recommended the procedure be performed by an experienced clinician<br /> <br /> <br /> ====Oligohydramnios====<br /> <br /> Oligohydramnios is a condition due to low amniotic fluid level, which is caused by amniotic fluid leakage. Amniotic fluid leakage is typically caused by fetal urinary tract abnormalities such as Potter's syndrome, polycystic kidneys, or genitourinary obstruction. But leakage can sometimes be caused by sampling of the chorionic villi due to insertion of the needle. If the resulting oligohydramnios is not treated and the amniotic fluid continues to leak it can result in the baby developing hypoplastic lungs (underdeveloped lungs). &lt;ref&gt;&lt;pubmed&gt;17694578&lt;/pubmed&gt;&lt;/ref&gt;&lt;br&gt;&lt;br&gt;<br /> <br /> <br /> '''Why would you use CVS over other techniques?'''<br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ Advantages and Disadvantages of Chorionic Villus Sampling<br /> ! Advantages !! Disadvantages <br /> |-<br /> |Can be performed earlier in pregnancy than amniocentesis (at around ten weeks).<br /> <br /> Results are available faster<br /> <br /> Cells obtained are mitotically active<br /> <br /> Amount of tissue obtained is preferable for DNA analysis.<br /> <br /> It is almost 100% reliable in detecting chromosomal and genetic defects.<br /> |It carries a slightly higher risk of miscarriage (1%-2%) than does amniocentesis<br /> <br /> It's less commonly available than amniocentesis, and fewer doctors are experienced in the procedure.<br /> <br /> It entails a greater risk of distorted results than does amniocentesis due to presence of mother's cells in the sample and discrepancies between chorionic villi and fetal genes.<br /> <br /> Metabolic disorders are difficult to diagnose and must be confirmed with amniocentesis.<br /> <br /> Because of the early gestational age at which the test is performed, fetal anatomy cannot be seen as well as it can at the time amniocentesis is performed.<br /> |-<br /> |}<br /> &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt;<br /> <br /> =Abnormalities found by CVS prenatal diagnostic technique=<br /> <br /> [[File:Down-normal.gif|right|thumb|280px|Normal]]<br /> <br /> [[File:Down-extra.gif|right|thumb|280px|third copy of chromosome 21]]<br /> <br /> The cells collected by CVS are sent to a cytogenetics laboratory. There the cells are cultured (stimulated to grow and divide) for 10-14 days. After enough cells are obtained, a banded karyotype is performed. This means that the fetal chromosomes in the cultured cells are stained and subsequently photographed. The photographed chromosomes are then ordered by number, counted and checked for structural abnormalities. There should be 46 chromosomes, 23 pairs. A boy's karyotype is described as 46,XY and a girl's karyotype is described as 46,XX.&lt;ref&gt;Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., de, l.C., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Lubs, H.A., Mahoney, M.J., Pergament, E., Simpson, J.L., Carpenter, R.J., Elias, S., Ginsberg, N.A., Goldberg, J.D., Hobbins, J.C., Lynch, L., Shiono, P.H., Wapner, R.J. &amp; Zachary, J.M. 1989, &quot;The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities&quot;, New England Journal of Medicine, vol. 320, no. 10, pp. 609-617. &lt;/ref&gt;<br /> <br /> <br /> <br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ This table shows what disorders CVS detects, the cause, frequency and any comments<br /> ! Disorder !! Cause !! Comments !! Frequency !! Picture <br /> |-<br /> |[[ Trisomy 21 | Down Syndrome ]]<br /> |A third copy of chromosome 21<br /> <br /> Normally, there are only two copies of this chromosome<br /> |The average IQ of children with Down syndrome is around 50, compared to normal children with an IQ of 100. Complications for people with down syndrome include: congenital heart defects, gastroesophageal reflux disease, recurrent ear infections, obstructive sleep apnea, and thyroid dysfunctions. &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt; The picture shows a newborn infant with Down Syndrome (Trisome 21)<br /> |Approximately 1 in 1,000 births &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt;<br /> |[[File:Trisomy_21_newborn.jpg|right|200 px]]<br /> |-<br /> |[[ Trisomy 13 | Trisomy 13 ]]<br /> |A third copy of chromosome 13<br /> <br /> Normally, there are only two copies of this chromosome<br /> |Also called Patau syndrome. This abnormality causes mental and motor abnormalities, polydactyly (extra digits), kidney defects, abnormal genitalia and heart defects, among many others. &lt;ref&gt;Driscoll, D.A. &amp; Gross, S. 2009, &quot;Prenatal Screening for Aneuploidy&quot;, New England Journal of Medicine, vol. 360, no. 24, pp. 2556-2562. &lt;/ref&gt; The picture shows an infant with polydactyly, a potential complication of Trisome 13<br /> |Less than 1% <br /> |[[File:220px-Patauhand.PNG|right|200 px]]<br /> |-<br /> |[[ Trisomy 18 | Trisomy 18 ]]<br /> |A third copy of chromosome 18<br /> <br /> Normally, there are only two copies of this chromosome<br /> |Also known as Edwards syndrome. It has a very low survival rate, due to: kidney and heart defects, intestines protruding outside the body, mental abnormalities, growth disorders, feeding and breathing difficulties. &lt;ref&gt;Driscoll, D.A. &amp; Gross, S. 2009, &quot;Prenatal Screening for Aneuploidy&quot;, New England Journal of Medicine, vol. 360, no. 24, pp. 2556-2562. &lt;/ref&gt; The picture shows a clenched hand and overlapping fingers: index finger overlaps third finger and fifth finger overlaps fourth finger, characteristically seen in Trisomy 18.<br /> |1 in 3,000 conceptions and approximately 1 in 6,000 live births <br /> |[[File:200px-Overlapping_fingers.JPG|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Cystic_fibrosis Cystic Fibrosis]<br /> |A mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR) in chromosome 7.<br /> |An autosomal recessive disease that causes excessive sticky mucous to form on mucosal surfaces effecting the digestive and respiratory organs. &lt;ref&gt;Levison, J.H., Barbieri, R.L., Katz, J.T. &amp; Loscalzo, J. 2010, &quot;Hard to Conceive&quot;, New England Journal of Medicine, vol. 363, no. 10, pp. 965-970. &lt;/ref&gt; The picture shows clubbing of the fingers in a person with cystic fibrosis<br /> |Approx 1 in 3,000 <br /> |[[File:220px-ClubbingCF.JPG|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Hemoglobinopathy Hemoglobinopathy]<br /> |Structural abnormalities in the globin proteins <br /> |Multiple types of abnormal haemoglobins exist including Haemoglobin S, C E and D that alter the structure of these proteins. A common defect is sickle cell disease.&lt;ref&gt;Abboud, M.R. 2009, &quot;Hematopoietic Stem-Cell Transplantation for Adults with Sickle Cell Disease&quot;, New England Journal of Medicine, vol. 361, no. 24, pp. 2380-2381. &lt;/ref&gt;<br /> |Hemoglobinopathies are a genetic defect and therefore an inherited disorder, frequency depends on which particular hemoglobinopathy is being discussed, eg. in the case of Sickle cell disease, it is estimated that 7% of worlds population are carriers<br /> |[[File:Series_10-09.jpg|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease Tay Sachs Disease]<br /> |mutations on chromosome 15 in the HEXA gene <br /> |It is a rare autosomal recessive defect inherited from parents that are carriers for the disease. Affected individuals suffer from premature nerve cells death in the brain. &lt;ref&gt;&lt;pubmed&gt;20100466&lt;/pubmed&gt;&lt;/ref&gt;<br /> |Approx 1 in 300 are carriers<br /> |[[File:220px-Autorecessive.svg.png|right|200 px]]<br /> |-<br /> |}<br /> <br /> =Outcomes=<br /> <br /> Since CVS is able to detect a variety of chromosome abnormalities, there is a chance that the baby may be affected with a defect. If the test results are normal however, this does not exclude other congenital defects and neural tube defects that can occur that can be detected by other prenatal diagnosis methods. IF the test result is positive and a defect is detected by CVS, the mother has several options available. One is to terminate the pregnancy and the other is to seek treatment after the baby is born. If the mother chooses to terminate the pregnancy, doctors have a responsibility to educate the mother and offer counseling.<br /> <br /> Doctors should:<br /> <br /> *Give parents information about the defect so that they can be prepared.<br /> *Talk to parents about the baby's predicted quality of life.<br /> *Should explain any procedures that will be done to the baby after he is born.<br /> *Doctors should do their best to tell parents what the problem is and how serious it is.<br /> <br /> Abortion is the termination of pregnancy, with the removal of the fetus and placenta from the uterus. In Australia, abortion laws vary by state and usually allow this up to a range of about 12 - 20 weeks into the pregnancy, on the grounds of fetal abnormalities, endangerment of the mother and other socio-economic factors.&lt;ref&gt;Cica. N., 1998. Abortion Law in Australia. Parliament of Australia, Parliamentary Library. Accessed September 29. 2010. &lt;http://www.aph.gov.au/library/pubs/rp/1998-99/99rp01.htm&gt;&lt;/ref&gt; If the mother chooses to terminate the pregnancy, counselling is usually done to make sure the parents understand the issues and ethics surrounding abortion.<br /> There are currently two ways to perform an abortion:<br /> <br /> '''Surgical abortion -''' Also called suction aspiration, or suction currette, this is the most common procedure used for first trimester abortion(up to 12 weeks) The cervix is dilated, and a tube is inserted through the cervix and a suction removes the fetus and the placenta. A curette is then used to scrape the wall of the uterus to ensure any remains are not left inside. If later in pregnancy, other surgical techniques are used. <br /> <br /> '''Medical abortion -''' ''(Note: Not applicable in this case due to CVS being performed at 10-12 weeks.)''This involves administration of a drug called mifepristone (RU486). Available for abortions earlier than 2-9 weeks, it is a low-risk and effective method instead of the surgical method earlier in pregnancy. Usage of the drug is available in many countries but is currently restricted in Australia.<br /> <br /> ===Treatment===<br /> <br /> If the mother decides to continue on with the pregnancy, treatment options are necessary for the baby after birth to maintain the health and symptoms associated with a defect. Some of these management options for some of the defects will be discussed below. <br /> <br /> '''Down Syndrome'''<br /> <br /> Treatment and therapies for Down syndrome available include the physical, medical and cognitive problems associated with Down Syndrome. Medical treatment such as surgery or medications, while early intervention programs and therapies help babies and children achieve better quality of life. For example, children with Down Syndrome have a higher risk for having many conditions such as congenital heart defects, problems with the thyroid, muscles, joint, vision and hearing problems. Medications can be used to treat these different problems, such as if the thyroid is affected, a child will benefit from taking thyroid replacement hormones. Medications aim to control the symptoms and reduce the impact the condition will have on the baby. There is no medication that can cure chromosome abnormalities. Some individuals affected with cardiac and gastrointestinal problems may also need surgery soon after birth. Regular screening for vision problems, hearing, hypothyroidism, and other medical conditions should be performed.<br /> <br /> Cognitive development can be assisted with physiotherapy and speech therapy for example. Since children with Down Syndrome can have speech problems due to their relatively small mouths and large tongue, speech therapy can help the child to communicate properly. Physical therapy is often needed since individuals with Down Syndrome have hypotonia (low muscle tone)which needs to be improved by developing motor skills.<br /> <br /> '''Trisomy 13'''<br /> <br /> Since Trisomy 13 causes a range of serious complications like congenital heart disease and brain and spinal cord abnormalities, the survival rate is low, with a median survival time of 2.5 days. &lt;ref&gt;&lt;pubmed&gt;11310997&lt;/pubmed&gt;&lt;/ref&gt; Treatment is usually directed towards the specific symptoms that are present in the affected child, which differs to each individual. In some cases, treatment may include surgical procedures to correct cleft lip and palate, or surgery to correct heart defects. This will depend upon the severity and nature of the abnormalities and symptoms.&lt;Ref&gt;Stewart, K. B., 2007. Trisomy 13 - Patau Syndrome. [Fact sheet] Centre for Genetics Education. Accessed 29 September, 2010. &lt;http://www.genetics.com.au/pdf/factsheets/fs29.pdf&gt;&lt;/ref&gt;<br /> <br /> '''Cystic fibrosis'''<br /> <br /> There is currently no cure for cystic fibrosis, but various treatment methods can manage the symptoms of lung and digestive problems, liver and gallbladder diseases and infertility. Digestive problems can be corrected by having a diet that is low in fat and high in protein, with vitamin supplements. Regular antibiotics are prescribed to prevent and to treat lung infections, and mucolytics are needed to make the mucous less sticky. Other methods to dislodge and remove mucous is manual chest physiotherapy, where it consists of bronchial drainage done manually or mechanically. Manual drainage can be done by performing controlled breathing techniques or the chest is vibrated or clapped to dislodge the mucous out of the airways. &lt;ref&gt;&lt;pubmed&gt;18079549&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> '''Tay-sachs disease'''<br /> <br /> The prognosis for babies with the condition is usually poor, with children living to the age of 4-5.&lt;ref&gt;National Institute of Neurological Disorders and Stroke. 2007. Tay-Sachs Disease Information Page. Accessed September 29, 2010. &lt;http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm&gt;&lt;/ref&gt; Therefore treatment for Tay-sachs disease is usually to help alleviate symptoms associated with the disease. Spasticity and siezures can be helped by administering anticonvulsants, while other supportive methods include respiratory care to keep the airway open and proper nutrition and hydration.<br /> <br /> =Ethical concerns=<br /> <br /> =Current associated research=<br /> <br /> Chorionic Villus Sampling (CVS) is one of many prenatal diagnostic tools for expectant mothers, it is popular since it can be used to identify potential problems with a fetus at a very early stage. However, the procedure does carry some risks, as does any invasive diagnostic procedure. As chorionic villus sampling is a relatively new technique, made available for safe routine use only 20 years ago, the current associated research is mainly associated with risks associated with the procedure, and ways to overcome these risks. The next section in this page will discuss the current research on CVS and the risks involved in the procedure, and not what the test results may find. <br /> <br /> ====Hypertensive disorders of pregnancy====<br /> <br /> Hypertension, or high blood pressure, is a condition where systemic arterial blood presssure is elevated. Hypertension is one of the most common medical problem during pregnancy, affecting about 2-3% of pregnancies.&lt;ref&gt;Gibson, P., Carson, M.P, 2010. Hypertension and Pregnancy. Accessed 29 September, 2010. &lt;http://emedicine.medscape.com/article/261435-overview&gt;&lt;/ref&gt;<br /> Pregnancy induced hypertension is a condition that can occur during and after the 20th week of pregnancy. The types of hypertensive disorders can include:<br /> <br /> [[File:Enamel_Hypoplasia_Due_to_Maternal_Toxemia.jpg|thumb|200px|right|Enamel hypoplasia due to maternal toxemia]]<br /> <br /> *Pre-eclampsia or toxemia – Characterised as high blood pressure above 140/90 with proteinuria (protein in the urine that is above 300mg)<br /> * Eclampsia - Developed in a pregnant woman who has had pre-eclampsia and is characterised by seizures <br /> * Gestational hypertension – arterial hypertension that occurs after the 20th week of gestation <br /> <br /> If untreated, the condition may develop into HELLP syndrome which is a serious complication noted by hemolytic aneamia, elevated liver enzymes and a low platelet count. <br /> <br /> <br /> There has been conflicting evidence in literature that suggests that CVS is associated with hypertensive disorders in pregnancy such as pre-clampsia and gestational hypertension. In several studies, such as data from the National Institute of Health that compared late CVS procedures with early amniocentesis, showed a higher rite of gestational hypertension and preeclampsia in pregnant mothers.&lt;ref&gt;&lt;pubmed&gt;15738029&lt;/pubmed&gt;&lt;/ref&gt; (5.4% for mothers who had CVS and 3.5% that had amniocentesis.) It was hypothesized that disruption and disturbance of the placenta at 13-14 weeks may increase the risk of maternal hypertension. In addition, another recent study in 2006 also reported that there was an increase in the rate of pre-clampsia in first-time expectant mothers who have had CVS.&lt;ref&gt;&lt;pubmed&gt;19455602&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> However, in a very recent data investigation of among 9098 women that were pregnant between 1990 and 2006, the overall incidence of hypertensive disorders with women who have had CVS was 2.7% compared to the control group that did not have the procedure done which was 7.1%.&lt;ref&gt;&lt;pubmed&gt;19918960&lt;/pubmed&gt;&lt;/ref&gt; Similarly, in a study conducted by The American College of Obstetricians and Gynecologists,&lt;ref&gt;&lt;pubmed&gt;20664398&lt;/pubmed&gt;&lt;/ref&gt; 31, 138 women were that were included in the investigation showed that 2.2% developed preeclampsia and 2.8% developed gestation hypertension. Only 7.8% of those individuals had previously had CVS procedure performed. <br /> <br /> Although it can be said that some woman may develop hypertensive disorders during pregnancy that have also had the CVS procedure done in the past, there is no conclusive evidence so far that definitively associates CVS with hypertensive disorders such as pre-clampsia and gestation hypertension.<br /> <br /> ====Malformations====<br /> [[File:Craniosynostosis_.jpg|right|250 px]]<br /> <br /> <br /> Many malformations were thought to be a result of more invasive prenatal diagnostic techniques such as chorionic villus sampling. These malformations include, but are not limited to, cardiac malformations, hypospadias, craniosynostosis, pyloric stenosis, inguinal hernia, polydactyly, syndactyly, hydrocephalus and cleft lip and palate. Although these studies have now confirmed no known relationship with CVS, we will mention some below. &lt;ref&gt;&lt;pubmed&gt;7937577&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> '''Craniosynostosis''' is a condition where one of the sutures of the skull prematurely fuses, this causes the other sutures to compensate in growth for the fused suture. In normal development of the skull, the sutures allow for brain growth, so if one suture fuses prematurely, the brain can not grow normally, and the other sutures over expand in compensation. In the shown image, pictures a1 and a2 show the normal development and fusing of the infant skull. b2 shows how a suture is prematurely fused and b1 shows how the abnormality shows in an infant child.<br /> Craniosyntosis may result in increased pressure on the brain and developmental delays. Treatment of craniosynostosis usually consists of surgery to the skull where a zigzag incision is made to make the hair look more natural than the scar left by a straight incision. The surgery separates the sutures that have joined together to allow the head to develop normally.<br /> <br /> &lt;ref&gt;Silver, R.K., Macgregor, S.N., Muhlbach, L.H., Knutel, T.A. &amp; Kambich, M.P. 1994, &quot;Congenital malformations subsequent to chorionic villus sampling: Outcome analysis of 1048 consecutive procedures&quot;, Prenatal diagnosis, vol. 14, no. 6, pp. 421-427. &lt;/ref&gt;<br /> <br /> [[File:Polydactyly.jpg|left|200 px]]<br /> '''Polydactyly''' is a congenital condition where an extra digit is formed. Mostly it occurs on only one hand or foot, but sometimes can occur on all limbs. The extra digit is mostly a small non-function appendage of skin, less often it is an extension of the adjacent digit, and rarely it is a fully functioning finger that arises from the wrist or ankle joint like the other digits. Polydactyly can be described as: <br /> <br /> ● postaxial polydactyly (arising from the little finger)<br /> <br /> ● preaxial polydactyly (arising from the thumb) or<br /> <br /> ● central polydactyly (arising from anywhere between the other digits)<br /> <br /> Polydactyly is seen in 1 in every 500 births, but the extra digit is usually surgically removed shortly after birth<br /> &lt;ref&gt;&lt;pubmed&gt;20661588&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> [[File:Syndactyly2.JPG|left|200 px]]<br /> '''Syndactyly''' is also a congenital condition, but is seen when digits are fused together. Syndactyly can be described as:<br /> <br /> ● simple syndactyly (where only skin is fused to the adjacent finger)<br /> <br /> ● complex syndactyly (where the bone is fused together)<br /> <br /> ● incomplete syndactyly (where fusion is only part of the way up the digit), and,<br /> <br /> ● complete syndactyly (where fusion is to the tip of the digit)<br /> <br /> The picture on the left shows an example of polysyndactyly, where the digits are both fused, and there is an extra digit.<br /> &lt;ref&gt;&lt;pubmed&gt;20811188&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> <br /> <br /> <br /> <br /> ====Hemangiomas====<br /> <br /> [[File:Capillary_haemangioma.jpg|thumb|200px|right|Hemangioma]]<br /> <br /> A hemangioma is a benign tumour growth of endothelial cells that can occur in newborns and infants. Hemangiomas can occur anywhere in the body but are often localised on the skin of the face and neck, and are characterised by a red to reddish purple raised lesion on the skin, similarly to a &quot;strawberry&quot; like appearance. Its red appearance is due to the newly formed blood vessels, which result from the malformation of angioblastic tissues of fetal life.&lt;ref&gt;&lt;pubmed&gt;7063565&lt;/pubmed&gt;&lt;/ref&gt; <br /> Most hemangiomas do not cause any serious complications, and regress later on in life, where 90% of hemangiomas in children would disappear by the age of 9. <br /> <br /> Recently, research has linked the increase in the incidence of hemangiomas in infants following CVS. It has been postulated that the mechanism of hemangioma formation is associated with the embolisation of angioblasts or endothelial cells from the placenta to the fetal skin.&lt;ref&gt;&lt;pubmed&gt;19218861&lt;/pubmed&gt;&lt;/ref&gt; Although this may link hemangiomas to placental origin, it is unclear how, or whether CVS directly interferes or enhances the formation of these lesions. However, a recent study that compared the effects of CVS and amniocentesis on the prevalence of hemangiomas in infants showed that 27% of the study group had hemangiomas with CVS compared to 9.4% in children with hemangiomas and amniocentesis. &lt;ref&gt;&lt;pubmed&gt;20824891&lt;/pubmed&gt;&lt;/ref&gt; Furthermore, in an previous study conducted in 1995, there was a threefold increase in incidence after trancervical procedure was done, compared to amniocentesis.&lt;ref&gt;Lo, K., Mihm, M. &amp; Fay, A. 2009, &quot;Current Theories on the Pathogenesis of Infantile Hemangioma&quot;, Seminars in ophthalmology, vol. 24, no. 3, pp. 172-177. &lt;/ref&gt;&lt;ref&gt;&lt;pubmed&gt;7784377&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> =Future of Chorionic Villus Sampling and Prenatal diagnosis techniques=<br /> <br /> Prenatal diagnosis has been used to detect chromosomal abnormalities, especially Down’s syndrome, for over 30 years. As we have discussed on this page, the most common forms of prenatal diagnosis are amniocentesis, CVS and ultrasound. The type of test used depends on the history of the parents, any abnormalities detected in the initial ultrasound examination, and preferences of the parents. Testing for chromosomal abnormalities using amniocentesis and CVS is invasive and somewhat time consuming. Some recent advancements in this field include the use of fluorescence in situ hybridisation (FISH), quantitative fluorescence-PCR techniques , and comparative genomics. Although these techniques are currently still invasive, the waiting time for these tests is usually only 1 to 2 days for chromosomal abnormalities. &lt;ref&gt;&lt;pubmed&gt;20014413&lt;/pubmed&gt;&lt;/ref&gt; This waiting time would mean a much less stressful waiting period for the parents. The future of prenatal diagnosis certainly lies in the field of non invasive techniques, and research in the field of prenatal diagnosis is looking toward making detection of abnormalities non invasive, using the fetal cells from maternal circulation. &lt;ref&gt;&lt;pubmed&gt;20014413&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> [[File:FISH_(technique).gif‎|thumb|250 px|FISH technique]]<br /> <br /> '''Fluorescence in situ hybridisation (FISH):''' FISH is a cytogenetic technique, involving analysing the number and shape of the chromosomes of cells. FISH detects the addition or deletion of specific DNA sequences on chromosomes using florescent probes that bind to a similar sequence of chromosomes. Once the florescence probes are attached, fluorescence microscopy is used to view the chromosomes and detect the abnormality. [http://en.wikipedia.org/wiki/Fluorescent_in_situ_hybridization More about FISH]<br /> <br /> '''Quantitative fluorescence-PCR techniques:'''<br /> <br /> '''Comparative genomics:'''<br /> <br /> =Useful links=<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Wikipedia'''[http://en.wikipedia.org/wiki/Chorionic_villus_sampling Chorionic villus sampling]<br /> <br /> '''Fact sheets''' [http://www.thewomens.org.au/ChorionicVillusSamplingCVS Chorionic villus sampling]<br /> <br /> '''Images''' [http://www.google.com.au/images?q=chorionic+villus+sampling&amp;oe=utf-8&amp;rls=org.mozilla:en-US:official&amp;client=firefox-a&amp;um=1&amp;ie=UTF-8&amp;source=univ&amp;ei=yCWcTKT-NsircY-nzNEJ&amp;sa=X&amp;oi=image_result_group&amp;ct=title&amp;resnum=4&amp;ved=0CD4QsAQwAw&amp;biw=1280&amp;bih=615 Chorionic villus sampling]<br /> <br /> '''You tube video of procedure''' [http://www.youtube.com/watch?v=0XUZsvTkEnw Chorionic villus sampling]<br /> <br /> =Glossary=<br /> <br /> '''Amniocentesis''' - A prenatal diagnostic test involving sampling of amniotic fluid by needle aspiration for genetic analysis.<br /> <br /> '''Amnion''' - An extraembryonic membrane ectoderm and extraembryonic mesoderm in origin and forms the innermost fetal membrane, produces amniotic fluid. This fluid-filled sac initially lies above the trilaminar embryo disc and with embryoic disc folding this sac is drawn ventrally to enclose (cover) the entire embryo, then fetus.<br /> <br /> '''Amniotic cavity''' - The fluid-filled (amniotic fluid) extraembryonic coelom (cavity) formed initially by epiblast and then ectoderm and surrounding extraembryonic mesoderm. In humans, it forms the innermost fetal membrane, produces amniotic fluid expanding to fuse with the chorionic membrane during week 8 of development.<br /> <br /> '''Amniotic fluid''' - The fluid that fills amniotic cavity totally encloses and cushions the embryo.<br /> <br /> '''Cannula''' - A flexible medical tube with a sharp-pointed part at one end that is inserted into a duct, vein, or cavity in order to drain away fluid or to administer drugs<br /> <br /> '''Chorion''' - The extraembryonic membrane generated from trophoblast and extraembryonic mesoderm that forms placenta. chorion and amnion are made by the somatopleure. The chorion becomes incorporated into placental development. The avian and reptilian chorion lies beside the egg shell and allows gas exchange.<br /> <br /> '''Chorionic villus sampling (CVS)''' - The taking a biopsy of the placenta, usually at the end of the second month of pregnancy, to test the fetus for genetic abnormalities.<br /> <br /> '''Chromosome''' - double stranded DNA coiled around histones. Condenses during mitosis and meiosis.<br /> <br /> '''Ectoderm''' - One of the initial 3 germ cell layers, which will form the nervous system from the neural tube and neural crest and also generates the entire epithelial layer of the skin covering the embryo.<br /> <br /> '''Endoscope''' - a long slender medical instrument for examining the interior of a bodily organ or performing minor surgery<br /> <br /> '''Endoderm''' - One of the initial 3 germ cell layers (ectoderm, mesoderm and endoderm) formed by the process of gastrulation. The endoderm forms as a cuboidal epithelium and contributes not only to the trilaminar embryo, but also lines the yolk sac. It will form the entire epithelial lining of the gastrointestinal tract (GIT), contribute to the accessory organs of GIT and also forms the epithelial lining of the respiratory tract.<br /> <br /> '''Fetus''' - In mammals, term describes the period of development following the embryonic period. In humans, the development week 9 to 36 is the fetal stage (second and third trimester). (see fetal period above). This term is also used non-scientifically to describe the human conceptus at both embryonic and fetal stages of development.<br /> <br /> '''Gene''' - A DNA sequence that is transcribed as a single unit and encodes a single polypeptide (protein) or a set of closely related polypeptides. There are approximately 20,000-25,000 protein encoding genes in the human genome. In each cell, DNA is found within the nucleus and also within mitochondria.<br /> <br /> '''Gestation''' - The period of time from conception to birth. A pregnancy with multiple fetuses is referred to as a multiple gestation.<br /> <br /> '''Mesoderm''' - The middle layer of the 3 germ cell layers of the trilaminar embryo.<br /> <br /> '''Miscarriage''' - A general clinical term for the loss of embryo or fetus by spontaneous abortion.<br /> <br /> '''Mitosis''' - The normal division of all cells, except germ cells, where chromosome number is maintained (diploid). <br /> <br /> '''Prenatal diagnosis''' - any of the diagnostic procedures used to determine whether a fetus has a genetic abnormality<br /> <br /> '''Tenaculum''' - instrument used to grasp the cervix and keep the uterus in place during gynecological procedures.<br /> <br /> '''Termination''' - The spontaneous or artificially induced expulsion of an embryo or fetus. As used in legal context, the term usually refers to induced abortion.<br /> <br /> '''Transabdominal''' - In the transabdominal CVS technique, the physician inserts a needle through the abdomen into the placenta. This is also done with ultrasound, to guide the physician<br /> <br /> '''Transcervical''' - In the transcervical CVS technique, the physician inserts a small tube through the cervix into the placenta. This is done while ultrasound guides the physician<br /> <br /> '''Ultrasound''' - A non-invasive technique for visualizing and prenatal diagnosis of several features of development including: follicles in the ovaries, the gestational sac, fetus in the uterus, fetal parameters, and the placenta. The technique uses high-frequency sound waves that are reflected off internal structures. These reflections can then be analysed and displayed by computer.<br /> <br /> '''Villi''' - Plural of villus, which is a thin projection from a surface. A term used to describe the many functional units together of the fetal placenta. <br /> <br /> '''Vitelline arteries and veins''' - The blood vessels which form in the extraembryonic mesoderm of the yolk sac and anastomose are called vitelline arteries (flow away from the embryo) and vitelline veins (flow toward the embryo).<br /> <br /> ==Prenatal Diagnosis Terms==<br /> <br /> '''false negative rate''' - The proportion of pregnancies that will test negative given that the congenital anomaly is present.<br /> <br /> '''false positive rate''' - The proportion of pregnancies that will test positive given that the congenital anomaly is absent.<br /> <br /> '''negative predictive value''' - The probability that a congenital anomaly is absent given that the prenatal screening test is negative.<br /> <br /> '''positive predictive value''' - The probability that a congenital anomaly is present given that the prenatal screening test is positive.<br /> <br /> '''pre-implantation genetic diagnosis''' - (PGD) a screening procedure for embryos produced through in vitro fertilisation (IVF) for genetic diseases that would generate developmental abnormalities or serious postnatal diseases.<br /> <br /> '''prenatal screening sensitivity''' - (detection rate) The probability of testing positive on a prenatal screening test if the congenital anomaly is present.<br /> <br /> '''prenatal screening specificity''' - The probability of testing negative on a prenatal screening test if the congenital anomaly is absent.<br /> <br /> <br /> ==Glossary Links==<br /> <br /> :[[A|A]] | [[B|B]] | [[C|C]] | [[D|D]] | [[E|E]] | [[F|F]] | [[G|G]] | [[H|H]] | [[I|I]] | [[J|J]] | [[K|K]] | [[L|L]] | [[M|M]] | [[N|N]] | [[O|O]] | [[P|P]] | [[Q|Q]] | [[R|R]] | [[S|S]] | [[T|T]] | [[U|U]] | [[V|V]] | [[W|W]] | [[X|X]] | [[Y|Y]] | [[Z|Z]] | [[Numbers|Numbers]]<br /> <br /> =References=<br /> &lt;references/&gt;<br /> <br /> == 2010 ANAT2341 Group Projects ==<br /> <br /> [[2010_Group_Project_1|Project 1 - Ultrasound]] | [[2010_Group_Project_2|Project 2 - Chorionic villus sampling]] | [[2010_Group_Project_3|Project 3 - Amniocentesis]] | [[2010_Group_Project_4|Group Project 4 - Percutaneous Umbilical Cord Blood Sampling]] | [[2010_Group_Project_5|Project 5 - Fetal Fibronectin]] | [[2010_Group_Project_6|Project 6 - Maternal serum alpha-fetoprotein]] | [[ANAT2341_2010_Students|Students Page]]<br /> <br /> <br /> {{Template:Footer}}<br /> [[Category:2010ANAT2341]] [[Category:Science-Undergraduate]]</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=File:FISH_(technique).gif&diff=39546 2010-10-06T02:45:08Z

<p>Z3265772: Fluorescent in-situ hybridization is a process which vividly paints chromosomes or portions of chromosomes with fluorescent molecules. This technique is useful for identifying chromosomal abnormalities and for gene mapping. image source: http://en.wikipe</p> <hr /> <div>Fluorescent in-situ hybridization is a process which vividly paints chromosomes or portions of chromosomes with fluorescent molecules. This technique is useful for identifying chromosomal abnormalities and for gene mapping.<br /> <br /> image source: http://en.wikipedia.org/wiki/File:FISH_%28technique%29.gif<br /> <br /> This file is licensed under the Creative Commons Attribution-Share Alike 3.0 Unported, 2.5 Generic, 2.0 Generic and 1.0 Generic license. <br /> <br /> You are free:<br /> <br /> * to share – to copy, distribute and transmit the work<br /> * to remix – to adapt the work<br /> <br /> Under the following conditions:<br /> <br /> * attribution – You must attribute the work in the manner specified by the author or licensor (but not in any way that suggests that they endorse you or your use of the work).<br /> * share alike – If you alter, transform, or build upon this work, you may distribute the resulting work only under the same or similar license to this one.</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=2010_Group_Project_2&diff=39534 2010-10-06T02:20:25Z

<p>Z3265772: /* Future of Chorionic Villus Sampling and Prenatal diagnosis techniques */</p> <hr /> <div>[[File:Embryo_11-14_weeks.jpg|right|400 px]]<br /> <br /> ='''Chorionic Villus Sampling (CVS)'''=<br /> <br /> =Introduction=<br /> <br /> [[Image:Gray31.png|thumb|350px|right|Grays]]<br /> <br /> <br /> Chorionic villus sampling or CVS is a type of prenatal diagnosis test performed in the first trimester to detect major fetal abnormalities such as down syndrome, cystic fibrosis and tay-sachs disease, among many others. In the procedure, tissue is withdrawn from small finger like projections on the placenta called chorionic villi and tested for chromosomal defects. It is commonly performed between 10 and 12 weeks of pregnancy. <br /> The advantage of CVS over other procedures is that the result is available approx 6 weeks earlier in the pregnancy, so if a termination is needed, it can be done earlier which is much safer, rather than later in the pregnancy, which can carry more risks. &lt;ref&gt;Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., de, l.C., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Lubs, H.A., Mahoney, M.J., Pergament, E., Simpson, J.L., Carpenter, R.J., Elias, S., Ginsberg, N.A., Goldberg, J.D., Hobbins, J.C., Lynch, L., Shiono, P.H., Wapner, R.J. &amp; Zachary, J.M. 1989, &quot;The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities&quot;, New England Journal of Medicine, vol. 320, no. 10, pp. 609-617.&lt;/ref&gt;<br /> <br /> ''Reasons for getting chorionic villus sampling can include:''<br /> <br /> -History of genetic disorders in the family<br /> <br /> -Parents have already had a child with a disorder such as down syndrome or cystic fibrosis<br /> <br /> -Abnormal ultrasound result<br /> <br /> -Maternal age of 35 or older, which increases the risk of chromosomal defects such as down syndrome<br /> <br /> <br /> =Historic background=<br /> <br /> <br /> '''Brief timeline of CVS use'''<br /> <br /> *1968 - Mohr in Scandinavia introduced the concept of prenatal diagnosis using chorionic villi sampling &lt;ref&gt;&lt;pubmed&gt;5691288&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1973 - Kullander and Sandahl and Hahnemann in 1974 showed further study into chromosomal analysis from CVS &lt;ref&gt;&lt;pubmed&gt;4766093&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1975 - from the Department of Obstetrics and Gynaecology at the Tietung Hospital in Anshan, China was successful in using CVS to determine sex of fetuses for sex pre selection. &lt;ref&gt;&lt;pubmed&gt;811431&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1980 - Kazy et al. were the first to use ultrasound guidance during chorionic villi sampling. &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1981 - Niazi et al. improved methods for culturing of fibroblasts from trophoblast villi. &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1983 - Ward performed transcervical CVS with 67% success rate. In the same year, the Brombati group demonstrated and 96% success rate with obtaining villi with the aid of ultrasound guidance &lt;ref&gt;&lt;pubmed&gt;6463023&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1984 - Smidt-Jensen and Hahnemann introduced transabdominal CVS under ultrasound guidance &lt;ref&gt;&lt;pubmed&gt;4088973&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1986 - The Golbus group had a 3.8% miscarriage rate, and subsequently many other clinics started reporting a much lower rate of miscarriage at 1.7% making the procedure safe for routine use &lt;ref&gt;&lt;pubmed&gt;3717235&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> ===Jan Mohr (1921-2009)===<br /> [[Image:Jan_Mohr.jpg|thumb|200px|left|Jan Mohr]]<br /> <br /> <br /> '''1968 -- Concept of CVS introduced'''<br /> <br /> In 1968 Jan Mohr introduced the concept of prenatal diagnosis using the CVS technique. &lt;ref&gt;&lt;pubmed&gt;5691288&lt;/pubmed&gt;&lt;/ref&gt; He used the transcervical method to get a biopsy of the chorion using an endoscope as the source of vision. The current technique differs by using mostly transabdominal access with ultrasound instead of an endoscope. He reported a 96% success rate in obtaining chorionic material but with a high incidence of bleeding and infection. The approach was abandoned as amniocentesis became more popular due to higher safety levels<br /> <br /> <br /> <br /> '''1973-1975 -- Further study into chromosomal analysis from CVS'''<br /> <br /> Kullander and Sandahl in 1973 and Hahnemann in 1974 further researched fetal chromosome analysis using transcervical biopsy before termination in early pregnancies. &lt;ref&gt;&lt;pubmed&gt;4766093&lt;/pubmed&gt;&lt;/ref&gt; In 1975 the first successful diagnostic use of chorionic villi was reported at the Tietung Hospital in China. &lt;ref&gt;&lt;pubmed&gt;811431&lt;/pubmed&gt;&lt;/ref&gt; This is where fetal sex was diagnosed for the purpose of sex pre-selection. They claimed to have 94% diagnosis success and only 4% miscarriage rate. Researchers in the United States were, however unable to duplicate the results and so the idea of CVS diagnosis was again abandoned for some time.<br /> <br /> <br /> '''1980-1983 -- Change from endoscopic examination to ultrasound to guide CVS'''<br /> <br /> With the invention of the ultrasound and advancement in molecular genetics, an earlier prenatal diagnosis was now sought after. So Kazy et al. in 1980, began using both the endoscope and the ultrasound for fetal sexing on chorion biopsies. This was the first report of using ultrasound guidance during chorion sampling. After Kazy et.al. began using the ultrasound for guidance, many others followed. Niazi et al., Ward and the Brombati group all started using ultrasound guided CVS. Techniques quickly improved and success rate of obtaining chorionic material rose from 75% to 96% &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> '''1984-1986 -- The introduction of transabdominal CVS'''<br /> <br /> In 1984, Smidt-Jensen and Hahnemann in Copenhagen introduced transabdominal CVS using ultrasound guidance. &lt;ref&gt;&lt;pubmed&gt;6463023&lt;/pubmed&gt;&lt;/ref&gt; With less chance of infective complications the procedure has become more popular than the transcervical method in many prenatal diagnostic centers. Other ultrasonic techniques and modifications were explored by the Brambati and Simoni group and the Golbus group in 1985. &lt;ref&gt;&lt;pubmed&gt;4088973&lt;/pubmed&gt;&lt;/ref&gt; The Golbus group reported in 1986 a miscarriage rate of 3.8%. &lt;ref&gt;&lt;pubmed&gt;3717235&lt;/pubmed&gt;&lt;/ref&gt; Subsequently, many other centres reported a much lower miscarriage rate of 1.5% which made the procedure safe for routine use.<br /> <br /> ==Table Comparing Prenatal Diagnosis Techniques==<br /> <br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ This table shows invasiveness and timeframe for some prenatal diagnostic techniques<br /> ! Invasiveness !! Diagnostic technique !! Comments !! Time that procedure can be performed !! Diagram<br /> |-<br /> |Non Invasive<br /> |[[2010_Group_Project_1|Ultrasound]]<br /> |'''Tests for:''' neural tube defects, chromosomal abnormalities and congenital heart abnormalities<br /> <br /> '''Risks:''' No risks currently indicated for ultrasound use in prenatal diagnosis. <br /> <br /> This test uses high frequency sound waves through a transmitting device, which construct a picture of the fetus when the waves are reflected and received back by the transmitter. Due to no known risks, ultrasound use is used routinely in pregnancies and is the first port of call for prenatal diagnosis. If a potential abnormality is found or the parents are high risk, then a more invasive diagnostic technique may be recommended. The type of diagnostic technique used depends on the potential abnormality found. &lt;ref&gt;Kremkali, F.W. (2006) Diagnostic Ultrasound Principles and Instruments (7th ed.) St Louis: Saunders Elsevier. pp3-5&lt;/ref&gt;[[2010_Group_Project_1|More about Ultrasound]]<br /> |Weeks 18-20<br /> |[[File:ZConvex_Array_Transducer.jpg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> |'''Tests for:''' chromosomal abnormalities and genetic abnormalities <br /> <br /> '''Risks:''' Miscarriage (1%), some of the side effects include dizziness, abdominal discomfort, cramping, haemorrhage, infection, ruptured amniotic sac, increased risk of limb defects if the test was performed at nine weeks’ gestation or earlier &lt;ref&gt;Alfirevic, Z., K. Sundberg, et al. 2008. &quot;Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review).&quot; Cochrane Database of Systematic Reviews 4: 1-134.&lt;/ref&gt;<br /> <br /> With the guidance of Ultrasound, a needle is inserted in to the abdomen or through the cervix and a small sample of chorionic villi from the placenta are obtained. This sample is sent to a cytogenetics laboratory where the cells are cultured and stained, and photographed to view chromosomes <br /> |Weeks 10-12<br /> |[[File:Transabdominal_CVS.jpg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_3|Amniocentesis ]] <br /> |'''Tests for:''' chromosomal abnormalities, fetal infections, and genetic abnormalities<br /> <br /> '''Risks:''' Miscarriage &lt;1%, stillbirths 3%, and small risk of infection. &lt;ref&gt;&lt;pubmed&gt;PMC2464303&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> A needle is inserted in to the uterus where a sample of the amniotic fluid surrounding the fetus is taken. This procedure is usually done with the guidance of ultrasound so the physician can see where the needle is being inserted. The amniotic fluid is analysed for abnormalities. [[2010_Group_Project_3|More about Amniocentesis ]]<br /> |Weeks 15-16<br /> |[[File:Process_of_amniocentesis.jpeg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_4|Percutaneous Umbilical Cord Blood Sampling]]<br /> |'''Tests for:'''chromosomal abnormalities, blood disorders, some metabolic disorders, fetal infections, and some causes of structural problems.<br /> <br /> '''Risks:'''Miscarriage &lt;2%, Preterm labour, fetal bradycardia, bleeding of the umbilical cord. &lt;ref&gt;&lt;pubmed&gt;16530195&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> A small needle is inserted in to the abdomen of the mother and a sample of blood is taken from the umbilical vein in the umbilical cord. This technique is often used when other diagnostic techniques are inconclusive, but should be used with caution as carries higher risk rates. The benefit of Percutaneous Umbilical Cord Blood Sampling is that the results are available much faster, within 72 hours of testing. CVS and amniocentesis tests need culturing and therefore take up to 11 days for a result. [[2010_Group_Project_4|More about Percutaneous Umbilical Cord Blood Sampling]]<br /> |Weeks 18-22<br /> |[[File:Placenta_Anterior.jpg|right|150 px]]<br /> |-<br /> |Less Invasive<br /> |[[2010_Group_Project_5|Fetal Fibronectin]]<br /> |'''Tests for:'''determines the likelihood of premature birth in women of high risk<br /> <br /> '''Risks:'''No known risks for the testing of Fetal Fibronectin, as is it less invasive than other techniques.<br /> <br /> Fetal Fibronectin is only found in the uterus until the onset of labour when is secretes in through the cervix. In this procedure, a sample of the cervico-vaginal secretions are taken and sent to the lab for testing. If the test comes out positive for Fetal Fibronectin in the vagina, the mother has a chance of going into premature labour. [[2010_Group_Project_5|More about Fetal Fibronectin]]<br /> |Weeks 24-34<br /> |[[File:FetalFN.jpg|right|150 px]]<br /> |-<br /> |Non Invasive<br /> |[[2010_Group_Project_6|Maternal serum alpha-fetoprotein]]<br /> |'''Tests for:'''AFP is a type of screening test and do not diagnose problems, but signal whether further testing is needed. Normal AFP levels are increased in Neural Tube Defects and Omphalocoele &amp; decreased in Down Syndrome.<br /> <br /> '''Risks:'''No known risks as Maternal serum alpha-fetoprotein is non invasive<br /> <br /> A blood sample is taken from the mother and alpha-fetoprotein levels are measured in the lab. These measurements can determine the risk level of certain abnormalities in the fetus. The advantage is that it is non invasive, but the disadvantage is that it has a very high false positive rate, so many mothers have gone on to have amniocentesis or chorionic villus sampling to find nothing is wrong with the baby. This can be overcome by having another alpha-fetoprotein test before getting amniocentesis or chorionic villus sampling. [[2010_Group_Project_6|More about Maternal serum alpha-fetoprotein]]<br /> |Weeks 15-20<br /> |[[File:Enzyme_immunoassay.jpg|right|150 px]]<br /> |-<br /> |}<br /> <br /> =Description of technique=<br /> [[File:Gray37.png|right|thumb|280px|Sample is taken from the chorionic villi]]<br /> [[File:transabdominal_CVS.jpg|right|thumb|280px|Transabdominal Technique]]<br /> [[File:transcervicalCVS.jpg|right|thumb|280px|Transcervical Technique]]<br /> <br /> The CVS procedure involves taking a sample of the chorion frondosum — the part of the chorionic membrane containing the villi. Between 10-12 weeks of pregnancy, the developing gestational sac is composed of a thick, outer chorionic membrane surrounding the amniotic cavity, a thin amniotic membrane and the chorionic cavity. The chorionic villi have now degenerated over most of the outer membrane, forming the chorion laeve, and the remaining villi fuses and embeds loosely into the decidua basalis. This forms the chorion frondosum, which will ultimately become the placenta. At this stage, the villi float freely in the blood of the intervillus space. Each villi is branched, and is composed of an outer syncytiotrophoblast and an inner cytotrophoblast layer. Within the centre of each villus is a mesenchymal core which contain capillaries carrying fetal blood. In CVS, usually samples of both cells lines (cytotrophoblasts and mesenchymal cells) are obtained. Chromosomal analysis of these cell lines can be performed by means of direct preparations, short-term cultures (cytotrophoblasts), or long-term cultures (mesenchymal cells) of the chorionic villi.&lt;ref&gt;Jenkins, T.M, Wapner, R.J, 1999. First trimester prenatal diagnosis: Chorionic villus sampling. Seminars in Perinatology. pp403-413.&lt;/ref&gt; <br /> <br /> CVS can be performed in two ways, through the cervix (transcervical) or through the abdomen (transabdominal). Both techniques are equally safe when performed by an experienced technician, however miscarriage rates are somewhat higher when done through the cervix. Prior to the procedure, an abdominal ultrasound can be performed to locate the position of the uterus, and the placenta. A full bladder is not required. Depending on the type of method performed, the vulva, vagina, cervix or abdomen are cleaned with antiseptic. The procedure normally takes only 1-2 minutes to perform and the patient is able to leave the clinic within the hour after the fetus is checked.&lt;ref&gt;Melbourne Ultrasound for Women. Chorionic Villus Sampling. Accessed 5 September 2010. http://www.nevdgp.org.au/info/melb_us/cvs_melb.htm&lt;/ref&gt; <br /> <br /> ===Transabdominal Procedure===<br /> <br /> # A local anaesthetic is first applied to the abdomen.&lt;br&gt;<br /> # A thin hollow needle is then inserted through the abdomen into the uterus and into the edge of the placenta where the chorion is located. An ultrasound transducer is commonly used to guide the needle during the procedure. &lt;br&gt;<br /> # A finer syringe needle is then passed through the outer needle, and the tissue is then drawn.&lt;br&gt;<br /> # The sample is taken to the laboratory for testing. <br /> <br /> ===Transcervical Procedure===<br /> # A speculum is inserted in the vagina and the area is cleaned with antiseptic.&lt;br&gt;<br /> # With the help of ultrasound imaging, a thin cannula is then inserted through the cervix and uterus and into the placenta.&lt;br&gt;<br /> #The tissue sample is then taken up through the cannula.&lt;br&gt;<br /> &lt;ref&gt;&lt;pubmed&gt;20154617&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> After the sample is taken to the laboratory, the cells are grown until there are enough cells for chromosome testing. The results normally take up to 2 weeks to complete.<br /> <br /> ===Complications===<br /> <br /> Some of the side effects and complications after a CVS procedure can include:<br /> <br /> * Dizziness <br /> * Abdominal discomfort<br /> * Cramping<br /> * Haemorrhage<br /> * Infection<br /> * Ruptured amniotic sac<br /> * Increased risk of limb defects if the test was performed at nine weeks’ gestation or earlier<br /> * Premature delivery<br /> &lt;ref&gt;Alfirevic, Z., K. Sundberg, et al. 2008. &quot;Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review).&quot; Cochrane Database of Systematic Reviews 4: 1-134.&lt;/ref&gt;<br /> <br /> Additional complications can involve technical errors such as failure of the specimen to grow sufficiently in the laboratory and uncertain laboratory results. If this occurs, amniocentesis is still an option after 15 weeks.<br /> <br /> ===Results and Accuracy===<br /> <br /> The accuracy of CVS to detect chromosome abnormalities is quite high, at around 98-99% &lt;ref&gt;Hall, Judith G. &quot;Chromosomal Clinical Abnormalities.&quot; In Nelson Textbook of Pediatrics. Edited by Richard E. Behrman et al. Philadelphia: Saunders, 2004.&lt;/ref&gt;. Although it has a high accuracy rate to diagnose most major chromosomal problems, CVS does have some limitations. Having a negative result for an abnormality does not rule out ALL genetic defects the baby may have. Comparatively to amniocentesis, CVS does NOT detect neural tube defects such as spina bifida, or anencephaly. <br /> The type of chromosome abnormalities detected by CVS will be further discussed in detail below.<br /> <br /> ===Limitations===<br /> [[file:Double_tetrasomy_18_mosaicism.jpg‎|thumb|250 px|Example of a child with double tetrasomy 18+ mosaicism.]]<br /> <br /> '''Maternal contamination'''<br /> <br /> Since the villus sample also involves maternal cells, there is a possibility that they may take over the laboratory culture instead, consequently leading to the mother's cells being tested instead of the fetus's cells. The risk of this happening is low however and is decreased when the sample contains an adequate amount of fetal cells.<br /> <br /> <br /> '''Mosaicism'''<br /> <br /> &quot;Mosaicism&quot; occurs when both abnormal and normal cells are found in the chorionic villi. Mosaicism can involve both the fetus (true fetal mosaicism) and the placental tissues or the placental tissues alone. When this happens, cells that multiply from these abnormal cells may develop a chromosome anomaly.<br /> What can result is that in certain body organs the fetus has a combination of cells that are abnormal and normal in genetic structure. <br /> The rate of the placental type occuring is found in 1-2% of pregnancies detected by CVS.&lt;ref&gt;&lt;pubmed&gt;9316125&lt;/pubmed&gt;&lt;/ref&gt; When mosaicism is detected by CVS, the limitation lies in the inability to conclude that the baby itself and not just the placental tissues will share the mosaicism. Even if the baby is affected, it will be unclear as to what percentage of the fetal cells and the type of organs that will be affected.&lt;ref&gt;Trofatter. K.F. 2008. Chromosomal Mosaicism Detected at the Time of Chorionic Villus Sampling. Accessed on 15 September 2010. http://www.healthline.com/blogs/pregnancy_childbirth/2008/03/chromosomal-mosaicism-detected-at-time.html&lt;/ref&gt;<br /> <br /> =Risks=<br /> <br /> <br /> When Chorionic Villus Sampling is performed, a small sample of the placenta is removed for analysis. The placenta contains fetal material, therefore can reveal genetic defects which may lead to problems or abnormalities. &lt;ref&gt;&lt;pubmed&gt;20664398&lt;/pubmed&gt;&lt;/ref&gt; This prenatal test can be performed as early as 11 weeks into the pregnancy, this is earlier than many prenatal diagnosis tests, which is why many parents choose CVS as they can have solid information earlier in the pregnancy. Some common risks which are not under current research include: Cramping, light blood spotting, pain, fever and chills, leakage (which can be a major concern as it can lower amniotic fluid to a dangerous level for the infant), and potential for missing fingers and toes in the newborn. For this reason, the procedure is only recommended for women who are at least 11 weeks pregnant. &lt;ref&gt;&lt;pubmed&gt;20051662&lt;/pubmed&gt;&lt;/ref&gt; The other major risks that are currently being researched are outlined below<br /> <br /> ====Transabdominal vs Transcervical CVS. Comparison of risks====<br /> <br /> <br /> [[File:CVS_Table.jpg|left|thumb|280px|Transabdominal vs Transcervical risks]]<br /> <br /> This table shows the symptoms of women approximately 3 days after sampling. The table shows women who had undergone transcervical sampling had higher frequencies of fluid leakage, vaginal spotting, and bleeding. When a tenaculum is not used, the frequency of vaginal spotting and bleeding persisted in the transcervical-sampling group. Only two women, both in the transcervical-sampling group, had a temperature above 38°C. &lt;ref&gt;Jackson, L.G., Zachary, J.M., Fowler, S.E., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Mahoney, M.J., Pergament, E., Simpson, J.L., Black, S. &amp; Wapner, R.J. 1992, &quot;A Randomized Comparison of Transcervical and Transabdominal Chorionic-Villus Sampling&quot;, New England Journal of Medicine, vol. 327, no. 9, pp. 594-598.&lt;/ref&gt;<br /> <br /> <br /> ====Miscarriage====<br /> <br /> One of the biggest risks of Chorionic Villus Sampling is miscarriage. In one to 100 or 200 cases, the procedure is linked with miscarriage. &lt;ref&gt;&lt;pubmed&gt;19155918&lt;/pubmed&gt;&lt;/ref&gt; In an experienced clinic, this rate may go down to one in 300 to 400. To lower the risk of miscarriage with Chorionic Villus Sampling, it is recommended the procedure be performed by an experienced clinician<br /> <br /> <br /> ====Oligohydramnios====<br /> <br /> Oligohydramnios is a condition due to low amniotic fluid level, which is caused by amniotic fluid leakage. Amniotic fluid leakage is typically caused by fetal urinary tract abnormalities such as Potter's syndrome, polycystic kidneys, or genitourinary obstruction. But leakage can sometimes be caused by sampling of the chorionic villi due to insertion of the needle. If the resulting oligohydramnios is not treated and the amniotic fluid continues to leak it can result in the baby developing hypoplastic lungs (underdeveloped lungs). &lt;ref&gt;&lt;pubmed&gt;17694578&lt;/pubmed&gt;&lt;/ref&gt;&lt;br&gt;&lt;br&gt;<br /> <br /> <br /> '''Why would you use CVS over other techniques?'''<br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ Advantages and Disadvantages of Chorionic Villus Sampling<br /> ! Advantages !! Disadvantages <br /> |-<br /> |Can be performed earlier in pregnancy than amniocentesis (at around ten weeks).<br /> <br /> Results are available faster<br /> <br /> Cells obtained are mitotically active<br /> <br /> Amount of tissue obtained is preferable for DNA analysis.<br /> <br /> It is almost 100% reliable in detecting chromosomal and genetic defects.<br /> |It carries a slightly higher risk of miscarriage (1%-2%) than does amniocentesis<br /> <br /> It's less commonly available than amniocentesis, and fewer doctors are experienced in the procedure.<br /> <br /> It entails a greater risk of distorted results than does amniocentesis due to presence of mother's cells in the sample and discrepancies between chorionic villi and fetal genes.<br /> <br /> Metabolic disorders are difficult to diagnose and must be confirmed with amniocentesis.<br /> <br /> Because of the early gestational age at which the test is performed, fetal anatomy cannot be seen as well as it can at the time amniocentesis is performed.<br /> |-<br /> |}<br /> &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt;<br /> <br /> =Abnormalities found by CVS prenatal diagnostic technique=<br /> <br /> [[File:Down-normal.gif|right|thumb|280px|Normal]]<br /> <br /> [[File:Down-extra.gif|right|thumb|280px|third copy of chromosome 21]]<br /> <br /> The cells collected by CVS are sent to a cytogenetics laboratory. There the cells are cultured (stimulated to grow and divide) for 10-14 days. After enough cells are obtained, a banded karyotype is performed. This means that the fetal chromosomes in the cultured cells are stained and subsequently photographed. The photographed chromosomes are then ordered by number, counted and checked for structural abnormalities. There should be 46 chromosomes, 23 pairs. A boy's karyotype is described as 46,XY and a girl's karyotype is described as 46,XX.&lt;ref&gt;Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., de, l.C., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Lubs, H.A., Mahoney, M.J., Pergament, E., Simpson, J.L., Carpenter, R.J., Elias, S., Ginsberg, N.A., Goldberg, J.D., Hobbins, J.C., Lynch, L., Shiono, P.H., Wapner, R.J. &amp; Zachary, J.M. 1989, &quot;The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities&quot;, New England Journal of Medicine, vol. 320, no. 10, pp. 609-617. &lt;/ref&gt;<br /> <br /> <br /> <br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ This table shows what disorders CVS detects, the cause, frequency and any comments<br /> ! Disorder !! Cause !! Comments !! Frequency !! Picture <br /> |-<br /> |[[ Trisomy 21 | Down Syndrome ]]<br /> |A third copy of chromosome 21<br /> <br /> Normally, there are only two copies of this chromosome<br /> |The average IQ of children with Down syndrome is around 50, compared to normal children with an IQ of 100. Complications for people with down syndrome include: congenital heart defects, gastroesophageal reflux disease, recurrent ear infections, obstructive sleep apnea, and thyroid dysfunctions. &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt; The picture shows a newborn infant with Down Syndrome (Trisome 21)<br /> |Approximately 1 in 1,000 births &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt;<br /> |[[File:Trisomy_21_newborn.jpg|right|200 px]]<br /> |-<br /> |[[ Trisomy 13 | Trisomy 13 ]]<br /> |A third copy of chromosome 13<br /> <br /> Normally, there are only two copies of this chromosome<br /> |Also called Patau syndrome. This abnormality causes mental and motor abnormalities, polydactyly (extra digits), kidney defects, abnormal genitalia and heart defects, among many others. &lt;ref&gt;Driscoll, D.A. &amp; Gross, S. 2009, &quot;Prenatal Screening for Aneuploidy&quot;, New England Journal of Medicine, vol. 360, no. 24, pp. 2556-2562. &lt;/ref&gt; The picture shows an infant with polydactyly, a potential complication of Trisome 13<br /> |Less than 1% <br /> |[[File:220px-Patauhand.PNG|right|200 px]]<br /> |-<br /> |[[ Trisomy 18 | Trisomy 18 ]]<br /> |A third copy of chromosome 18<br /> <br /> Normally, there are only two copies of this chromosome<br /> |Also known as Edwards syndrome. It has a very low survival rate, due to: kidney and heart defects, intestines protruding outside the body, mental abnormalities, growth disorders, feeding and breathing difficulties. &lt;ref&gt;Driscoll, D.A. &amp; Gross, S. 2009, &quot;Prenatal Screening for Aneuploidy&quot;, New England Journal of Medicine, vol. 360, no. 24, pp. 2556-2562. &lt;/ref&gt; The picture shows a clenched hand and overlapping fingers: index finger overlaps third finger and fifth finger overlaps fourth finger, characteristically seen in Trisomy 18.<br /> |1 in 3,000 conceptions and approximately 1 in 6,000 live births <br /> |[[File:200px-Overlapping_fingers.JPG|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Cystic_fibrosis Cystic Fibrosis]<br /> |A mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR) in chromosome 7.<br /> |An autosomal recessive disease that causes excessive sticky mucous to form on mucosal surfaces effecting the digestive and respiratory organs. &lt;ref&gt;Levison, J.H., Barbieri, R.L., Katz, J.T. &amp; Loscalzo, J. 2010, &quot;Hard to Conceive&quot;, New England Journal of Medicine, vol. 363, no. 10, pp. 965-970. &lt;/ref&gt; The picture shows clubbing of the fingers in a person with cystic fibrosis<br /> |Approx 1 in 3,000 <br /> |[[File:220px-ClubbingCF.JPG|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Hemoglobinopathy Hemoglobinopathy]<br /> |Structural abnormalities in the globin proteins <br /> |Multiple types of abnormal haemoglobins exist including Haemoglobin S, C E and D that alter the structure of these proteins. A common defect is sickle cell disease.&lt;ref&gt;Abboud, M.R. 2009, &quot;Hematopoietic Stem-Cell Transplantation for Adults with Sickle Cell Disease&quot;, New England Journal of Medicine, vol. 361, no. 24, pp. 2380-2381. &lt;/ref&gt;<br /> |Hemoglobinopathies are a genetic defect and therefore an inherited disorder, frequency depends on which particular hemoglobinopathy is being discussed, eg. in the case of Sickle cell disease, it is estimated that 7% of worlds population are carriers<br /> |[[File:Series_10-09.jpg|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease Tay Sachs Disease]<br /> |mutations on chromosome 15 in the HEXA gene <br /> |It is a rare autosomal recessive defect inherited from parents that are carriers for the disease. Affected individuals suffer from premature nerve cells death in the brain. &lt;ref&gt;&lt;pubmed&gt;20100466&lt;/pubmed&gt;&lt;/ref&gt;<br /> |Approx 1 in 300 are carriers<br /> |[[File:220px-Autorecessive.svg.png|right|200 px]]<br /> |-<br /> |}<br /> <br /> =Outcomes=<br /> <br /> Since CVS is able to detect a variety of chromosome abnormalities, there is a chance that the baby may be affected with a defect. If the test results are normal however, this does not exclude other congenital defects and neural tube defects that can occur that can be detected by other prenatal diagnosis methods. IF the test result is positive and a defect is detected by CVS, the mother has several options available. One is to terminate the pregnancy and the other is to seek treatment after the baby is born. If the mother chooses to terminate the pregnancy, doctors have a responsibility to educate the mother and offer counseling.<br /> <br /> Doctors should:<br /> <br /> *Give parents information about the defect so that they can be prepared.<br /> *Talk to parents about the baby's predicted quality of life.<br /> *Should explain any procedures that will be done to the baby after he is born.<br /> *Doctors should do their best to tell parents what the problem is and how serious it is.<br /> <br /> Abortion is the termination of pregnancy, with the removal of the fetus and placenta from the uterus. In Australia, abortion laws vary by state and usually allow this up to a range of about 12 - 20 weeks into the pregnancy, on the grounds of fetal abnormalities, endangerment of the mother and other socio-economic factors.&lt;ref&gt;Cica. N., 1998. Abortion Law in Australia. Parliament of Australia, Parliamentary Library. Accessed September 29. 2010. &lt;http://www.aph.gov.au/library/pubs/rp/1998-99/99rp01.htm&gt;&lt;/ref&gt; If the mother chooses to terminate the pregnancy, counselling is usually done to make sure the parents understand the issues and ethics surrounding abortion.<br /> There are currently two ways to perform an abortion:<br /> <br /> '''Surgical abortion -''' Also called suction aspiration, or suction currette, this is the most common procedure used for first trimester abortion(up to 12 weeks) The cervix is dilated, and a tube is inserted through the cervix and a suction removes the fetus and the placenta. A curette is then used to scrape the wall of the uterus to ensure any remains are not left inside. If later in pregnancy, other surgical techniques are used. <br /> <br /> '''Medical abortion -''' ''(Note: Not applicable in this case due to CVS being performed at 10-12 weeks.)''This involves administration of a drug called mifepristone (RU486). Available for abortions earlier than 2-9 weeks, it is a low-risk and effective method instead of the surgical method earlier in pregnancy. Usage of the drug is available in many countries but is currently restricted in Australia.<br /> <br /> ===Treatment===<br /> <br /> If the mother decides to continue on with the pregnancy, treatment options are necessary for the baby after birth to maintain the health and symptoms associated with a defect. Some of these management options for some of the defects will be discussed below. <br /> <br /> '''Down Syndrome'''<br /> <br /> Treatment and therapies for Down syndrome available include the physical, medical and cognitive problems associated with Down Syndrome. Medical treatment such as surgery or medications, while early intervention programs and therapies help babies and children achieve better quality of life. For example, children with Down Syndrome have a higher risk for having many conditions such as congenital heart defects, problems with the thyroid, muscles, joint, vision and hearing problems. Medications can be used to treat these different problems, such as if the thyroid is affected, a child will benefit from taking thyroid replacement hormones. Medications aim to control the symptoms and reduce the impact the condition will have on the baby. There is no medication that can cure chromosome abnormalities. Some individuals affected with cardiac and gastrointestinal problems may also need surgery soon after birth. Regular screening for vision problems, hearing, hypothyroidism, and other medical conditions should be performed.<br /> <br /> Cognitive development can be assisted with physiotherapy and speech therapy for example. Since children with Down Syndrome can have speech problems due to their relatively small mouths and large tongue, speech therapy can help the child to communicate properly. Physical therapy is often needed since individuals with Down Syndrome have hypotonia (low muscle tone)which needs to be improved by developing motor skills.<br /> <br /> '''Trisomy 13'''<br /> <br /> Since Trisomy 13 causes a range of serious complications like congenital heart disease and brain and spinal cord abnormalities, the survival rate is low, with a median survival time of 2.5 days. &lt;ref&gt;&lt;pubmed&gt;11310997&lt;/pubmed&gt;&lt;/ref&gt; Treatment is usually directed towards the specific symptoms that are present in the affected child, which differs to each individual. In some cases, treatment may include surgical procedures to correct cleft lip and palate, or surgery to correct heart defects. This will depend upon the severity and nature of the abnormalities and symptoms.&lt;Ref&gt;Stewart, K. B., 2007. Trisomy 13 - Patau Syndrome. [Fact sheet] Centre for Genetics Education. Accessed 29 September, 2010. &lt;http://www.genetics.com.au/pdf/factsheets/fs29.pdf&gt;&lt;/ref&gt;<br /> <br /> '''Cystic fibrosis'''<br /> <br /> There is currently no cure for cystic fibrosis, but various treatment methods can manage the symptoms of lung and digestive problems, liver and gallbladder diseases and infertility. Digestive problems can be corrected by having a diet that is low in fat and high in protein, with vitamin supplements. Regular antibiotics are prescribed to prevent and to treat lung infections, and mucolytics are needed to make the mucous less sticky. Other methods to dislodge and remove mucous is manual chest physiotherapy, where it consists of bronchial drainage done manually or mechanically. Manual drainage can be done by performing controlled breathing techniques or the chest is vibrated or clapped to dislodge the mucous out of the airways. &lt;ref&gt;&lt;pubmed&gt;18079549&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> '''Tay-sachs disease'''<br /> <br /> The prognosis for babies with the condition is usually poor, with children living to the age of 4-5.&lt;ref&gt;National Institute of Neurological Disorders and Stroke. 2007. Tay-Sachs Disease Information Page. Accessed September 29, 2010. &lt;http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm&gt;&lt;/ref&gt; Therefore treatment for Tay-sachs disease is usually to help alleviate symptoms associated with the disease. Spasticity and siezures can be helped by administering anticonvulsants, while other supportive methods include respiratory care to keep the airway open and proper nutrition and hydration.<br /> <br /> =Ethical concerns=<br /> <br /> =Current associated research=<br /> <br /> Chorionic Villus Sampling (CVS) is one of many prenatal diagnostic tools for expectant mothers, it is popular since it can be used to identify potential problems with a fetus at a very early stage. However, the procedure does carry some risks, as does any invasive diagnostic procedure. As chorionic villus sampling is a relatively new technique, made available for safe routine use only 20 years ago, the current associated research is mainly associated with risks associated with the procedure, and ways to overcome these risks. The next section in this page will discuss the current research on CVS and the risks involved in the procedure, and not what the test results may find. <br /> <br /> ====Hypertensive disorders of pregnancy====<br /> <br /> Hypertension, or high blood pressure, is a condition where systemic arterial blood presssure is elevated. Hypertension is one of the most common medical problem during pregnancy, affecting about 2-3% of pregnancies.&lt;ref&gt;Gibson, P., Carson, M.P, 2010. Hypertension and Pregnancy. Accessed 29 September, 2010. &lt;http://emedicine.medscape.com/article/261435-overview&gt;&lt;/ref&gt;<br /> Pregnancy induced hypertension is a condition that can occur during and after the 20th week of pregnancy. The types of hypertensive disorders can include:<br /> <br /> [[File:Enamel_Hypoplasia_Due_to_Maternal_Toxemia.jpg|thumb|200px|right|Enamel hypoplasia due to maternal toxemia]]<br /> <br /> *Pre-eclampsia or toxemia – Characterised as high blood pressure above 140/90 with proteinuria (protein in the urine that is above 300mg)<br /> * Eclampsia - Developed in a pregnant woman who has had pre-eclampsia and is characterised by seizures <br /> * Gestational hypertension – arterial hypertension that occurs after the 20th week of gestation <br /> <br /> If untreated, the condition may develop into HELLP syndrome which is a serious complication noted by hemolytic aneamia, elevated liver enzymes and a low platelet count. <br /> <br /> <br /> There has been conflicting evidence in literature that suggests that CVS is associated with hypertensive disorders in pregnancy such as pre-clampsia and gestational hypertension. In several studies, such as data from the National Institute of Health that compared late CVS procedures with early amniocentesis, showed a higher rite of gestational hypertension and preeclampsia in pregnant mothers.&lt;ref&gt;&lt;pubmed&gt;15738029&lt;/pubmed&gt;&lt;/ref&gt; (5.4% for mothers who had CVS and 3.5% that had amniocentesis.) It was hypothesized that disruption and disturbance of the placenta at 13-14 weeks may increase the risk of maternal hypertension. In addition, another recent study in 2006 also reported that there was an increase in the rate of pre-clampsia in first-time expectant mothers who have had CVS.&lt;ref&gt;&lt;pubmed&gt;19455602&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> However, in a very recent data investigation of among 9098 women that were pregnant between 1990 and 2006, the overall incidence of hypertensive disorders with women who have had CVS was 2.7% compared to the control group that did not have the procedure done which was 7.1%.&lt;ref&gt;&lt;pubmed&gt;19918960&lt;/pubmed&gt;&lt;/ref&gt; Similarly, in a study conducted by The American College of Obstetricians and Gynecologists,&lt;ref&gt;&lt;pubmed&gt;20664398&lt;/pubmed&gt;&lt;/ref&gt; 31, 138 women were that were included in the investigation showed that 2.2% developed preeclampsia and 2.8% developed gestation hypertension. Only 7.8% of those individuals had previously had CVS procedure performed. <br /> <br /> Although it can be said that some woman may develop hypertensive disorders during pregnancy that have also had the CVS procedure done in the past, there is no conclusive evidence so far that definitively associates CVS with hypertensive disorders such as pre-clampsia and gestation hypertension.<br /> <br /> ====Malformations====<br /> [[File:Craniosynostosis_.jpg|right|250 px]]<br /> <br /> <br /> Many malformations were thought to be a result of more invasive prenatal diagnostic techniques such as chorionic villus sampling. These malformations include, but are not limited to, cardiac malformations, hypospadias, craniosynostosis, pyloric stenosis, inguinal hernia, polydactyly, syndactyly, hydrocephalus and cleft lip and palate. Although these studies have now confirmed no known relationship with CVS, we will mention some below. &lt;ref&gt;&lt;pubmed&gt;7937577&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> '''Craniosynostosis''' is a condition where one of the sutures of the skull prematurely fuses, this causes the other sutures to compensate in growth for the fused suture. In normal development of the skull, the sutures allow for brain growth, so if one suture fuses prematurely, the brain can not grow normally, and the other sutures over expand in compensation. In the shown image, pictures a1 and a2 show the normal development and fusing of the infant skull. b2 shows how a suture is prematurely fused and b1 shows how the abnormality shows in an infant child.<br /> Craniosyntosis may result in increased pressure on the brain and developmental delays. Treatment of craniosynostosis usually consists of surgery to the skull where a zigzag incision is made to make the hair look more natural than the scar left by a straight incision. The surgery separates the sutures that have joined together to allow the head to develop normally.<br /> <br /> &lt;ref&gt;Silver, R.K., Macgregor, S.N., Muhlbach, L.H., Knutel, T.A. &amp; Kambich, M.P. 1994, &quot;Congenital malformations subsequent to chorionic villus sampling: Outcome analysis of 1048 consecutive procedures&quot;, Prenatal diagnosis, vol. 14, no. 6, pp. 421-427. &lt;/ref&gt;<br /> <br /> [[File:Polydactyly.jpg|left|200 px]]<br /> '''Polydactyly''' is a congenital condition where an extra digit is formed. Mostly it occurs on only one hand or foot, but sometimes can occur on all limbs. The extra digit is mostly a small non-function appendage of skin, less often it is an extension of the adjacent digit, and rarely it is a fully functioning finger that arises from the wrist or ankle joint like the other digits. Polydactyly can be described as: <br /> <br /> ● postaxial polydactyly (arising from the little finger)<br /> <br /> ● preaxial polydactyly (arising from the thumb) or<br /> <br /> ● central polydactyly (arising from anywhere between the other digits)<br /> <br /> Polydactyly is seen in 1 in every 500 births, but the extra digit is usually surgically removed shortly after birth<br /> &lt;ref&gt;&lt;pubmed&gt;20661588&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> [[File:Syndactyly2.JPG|left|200 px]]<br /> '''Syndactyly''' is also a congenital condition, but is seen when digits are fused together. Syndactyly can be described as:<br /> <br /> ● simple syndactyly (where only skin is fused to the adjacent finger)<br /> <br /> ● complex syndactyly (where the bone is fused together)<br /> <br /> ● incomplete syndactyly (where fusion is only part of the way up the digit), and,<br /> <br /> ● complete syndactyly (where fusion is to the tip of the digit)<br /> <br /> The picture on the left shows an example of polysyndactyly, where the digits are both fused, and there is an extra digit.<br /> &lt;ref&gt;&lt;pubmed&gt;20811188&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> <br /> <br /> <br /> <br /> ====Hemangiomas====<br /> <br /> [[File:Capillary_haemangioma.jpg|thumb|200px|right|Hemangioma]]<br /> <br /> A hemangioma is a benign tumour growth of endothelial cells that can occur in newborns and infants. Hemangiomas can occur anywhere in the body but are often localised on the skin of the face and neck, and are characterised by a red to reddish purple raised lesion on the skin, similarly to a &quot;strawberry&quot; like appearance. Its red appearance is due to the newly formed blood vessels, which result from the malformation of angioblastic tissues of fetal life.&lt;ref&gt;&lt;pubmed&gt;7063565&lt;/pubmed&gt;&lt;/ref&gt; <br /> Most hemangiomas do not cause any serious complications, and regress later on in life, where 90% of hemangiomas in children would disappear by the age of 9. <br /> <br /> Recently, research has linked the increase in the incidence of hemangiomas in infants following CVS. It has been postulated that the mechanism of hemangioma formation is associated with the embolisation of angioblasts or endothelial cells from the placenta to the fetal skin.&lt;ref&gt;&lt;pubmed&gt;19218861&lt;/pubmed&gt;&lt;/ref&gt; Although this may link hemangiomas to placental origin, it is unclear how, or whether CVS directly interferes or enhances the formation of these lesions. However, a recent study that compared the effects of CVS and amniocentesis on the prevalence of hemangiomas in infants showed that 27% of the study group had hemangiomas with CVS compared to 9.4% in children with hemangiomas and amniocentesis. &lt;ref&gt;&lt;pubmed&gt;20824891&lt;/pubmed&gt;&lt;/ref&gt; Furthermore, in an previous study conducted in 1995, there was a threefold increase in incidence after trancervical procedure was done, compared to amniocentesis.&lt;ref&gt;Lo, K., Mihm, M. &amp; Fay, A. 2009, &quot;Current Theories on the Pathogenesis of Infantile Hemangioma&quot;, Seminars in ophthalmology, vol. 24, no. 3, pp. 172-177. &lt;/ref&gt;&lt;ref&gt;&lt;pubmed&gt;7784377&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> =Future of Chorionic Villus Sampling and Prenatal diagnosis techniques=<br /> <br /> Prenatal diagnosis has been used to detect chromosomal abnormalities, especially Down’s syndrome, for over 30 years. As we have discussed on this page, the most common forms of prenatal diagnosis are amniocentesis, CVS and ultrasound. The type of test used depends on the history of the parents, any abnormalities detected in the initial ultrasound examination, and preferences of the parents. Testing for chromosomal abnormalities using amniocentesis and CVS is invasive and somewhat time consuming. Some recent advancements in this field include the use of fluorescence in situ hybridisation (FISH), quantitative fluorescence-PCR techniques , and comparative genomics. Although these techniques are currently still invasive, the waiting time for these tests is usually only 1 to 2 days for chromosomal abnormalities. &lt;ref&gt;&lt;pubmed&gt;20014413&lt;/pubmed&gt;&lt;/ref&gt; This waiting time would mean a much less stressful waiting period for the parents. The future of prenatal diagnosis certainly lies in the field of non invasive techniques, and research in the field of prenatal diagnosis is looking toward making detection of abnormalities non invasive, using the fetal cells from maternal circulation. &lt;ref&gt;&lt;pubmed&gt;20014413&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> '''Fluorescence in situ hybridisation (FISH):''' FISH is a cytogenetic technique, involving analysing the number and shape of the chromosomes of cells. FISH detects the addition or deletion of specific DNA sequences on chromosomes using florescent probes that bind to a similar sequence of chromosomes. Once the florescence probes are attached, fluorescence microscopy is used to view the chromosomes and detect the abnormality. [http://en.wikipedia.org/wiki/Fluorescent_in_situ_hybridization More about FISH]<br /> <br /> '''Quantitative fluorescence-PCR techniques:'''<br /> <br /> '''Comparative genomics:'''<br /> <br /> =Useful links=<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Wikipedia'''[http://en.wikipedia.org/wiki/Chorionic_villus_sampling Chorionic villus sampling]<br /> <br /> '''Fact sheets''' [http://www.thewomens.org.au/ChorionicVillusSamplingCVS Chorionic villus sampling]<br /> <br /> '''Images''' [http://www.google.com.au/images?q=chorionic+villus+sampling&amp;oe=utf-8&amp;rls=org.mozilla:en-US:official&amp;client=firefox-a&amp;um=1&amp;ie=UTF-8&amp;source=univ&amp;ei=yCWcTKT-NsircY-nzNEJ&amp;sa=X&amp;oi=image_result_group&amp;ct=title&amp;resnum=4&amp;ved=0CD4QsAQwAw&amp;biw=1280&amp;bih=615 Chorionic villus sampling]<br /> <br /> '''You tube video of procedure''' [http://www.youtube.com/watch?v=0XUZsvTkEnw Chorionic villus sampling]<br /> <br /> =Glossary=<br /> <br /> '''Amniocentesis''' - A prenatal diagnostic test involving sampling of amniotic fluid by needle aspiration for genetic analysis.<br /> <br /> '''Amnion''' - An extraembryonic membrane ectoderm and extraembryonic mesoderm in origin and forms the innermost fetal membrane, produces amniotic fluid. This fluid-filled sac initially lies above the trilaminar embryo disc and with embryoic disc folding this sac is drawn ventrally to enclose (cover) the entire embryo, then fetus.<br /> <br /> '''Amniotic cavity''' - The fluid-filled (amniotic fluid) extraembryonic coelom (cavity) formed initially by epiblast and then ectoderm and surrounding extraembryonic mesoderm. In humans, it forms the innermost fetal membrane, produces amniotic fluid expanding to fuse with the chorionic membrane during week 8 of development.<br /> <br /> '''Amniotic fluid''' - The fluid that fills amniotic cavity totally encloses and cushions the embryo.<br /> <br /> '''Cannula''' - A flexible medical tube with a sharp-pointed part at one end that is inserted into a duct, vein, or cavity in order to drain away fluid or to administer drugs<br /> <br /> '''Chorion''' - The extraembryonic membrane generated from trophoblast and extraembryonic mesoderm that forms placenta. chorion and amnion are made by the somatopleure. The chorion becomes incorporated into placental development. The avian and reptilian chorion lies beside the egg shell and allows gas exchange.<br /> <br /> '''Chorionic villus sampling (CVS)''' - The taking a biopsy of the placenta, usually at the end of the second month of pregnancy, to test the fetus for genetic abnormalities.<br /> <br /> '''Chromosome''' - double stranded DNA coiled around histones. Condenses during mitosis and meiosis.<br /> <br /> '''Ectoderm''' - One of the initial 3 germ cell layers, which will form the nervous system from the neural tube and neural crest and also generates the entire epithelial layer of the skin covering the embryo.<br /> <br /> '''Endoscope''' - a long slender medical instrument for examining the interior of a bodily organ or performing minor surgery<br /> <br /> '''Endoderm''' - One of the initial 3 germ cell layers (ectoderm, mesoderm and endoderm) formed by the process of gastrulation. The endoderm forms as a cuboidal epithelium and contributes not only to the trilaminar embryo, but also lines the yolk sac. It will form the entire epithelial lining of the gastrointestinal tract (GIT), contribute to the accessory organs of GIT and also forms the epithelial lining of the respiratory tract.<br /> <br /> '''Fetus''' - In mammals, term describes the period of development following the embryonic period. In humans, the development week 9 to 36 is the fetal stage (second and third trimester). (see fetal period above). This term is also used non-scientifically to describe the human conceptus at both embryonic and fetal stages of development.<br /> <br /> '''Gene''' - A DNA sequence that is transcribed as a single unit and encodes a single polypeptide (protein) or a set of closely related polypeptides. There are approximately 20,000-25,000 protein encoding genes in the human genome. In each cell, DNA is found within the nucleus and also within mitochondria.<br /> <br /> '''Gestation''' - The period of time from conception to birth. A pregnancy with multiple fetuses is referred to as a multiple gestation.<br /> <br /> '''Mesoderm''' - The middle layer of the 3 germ cell layers of the trilaminar embryo.<br /> <br /> '''Miscarriage''' - A general clinical term for the loss of embryo or fetus by spontaneous abortion.<br /> <br /> '''Mitosis''' - The normal division of all cells, except germ cells, where chromosome number is maintained (diploid). <br /> <br /> '''Prenatal diagnosis''' - any of the diagnostic procedures used to determine whether a fetus has a genetic abnormality<br /> <br /> '''Tenaculum''' - instrument used to grasp the cervix and keep the uterus in place during gynecological procedures.<br /> <br /> '''Termination''' - The spontaneous or artificially induced expulsion of an embryo or fetus. As used in legal context, the term usually refers to induced abortion.<br /> <br /> '''Transabdominal''' - In the transabdominal CVS technique, the physician inserts a needle through the abdomen into the placenta. This is also done with ultrasound, to guide the physician<br /> <br /> '''Transcervical''' - In the transcervical CVS technique, the physician inserts a small tube through the cervix into the placenta. This is done while ultrasound guides the physician<br /> <br /> '''Ultrasound''' - A non-invasive technique for visualizing and prenatal diagnosis of several features of development including: follicles in the ovaries, the gestational sac, fetus in the uterus, fetal parameters, and the placenta. The technique uses high-frequency sound waves that are reflected off internal structures. These reflections can then be analysed and displayed by computer.<br /> <br /> '''Villi''' - Plural of villus, which is a thin projection from a surface. A term used to describe the many functional units together of the fetal placenta. <br /> <br /> '''Vitelline arteries and veins''' - The blood vessels which form in the extraembryonic mesoderm of the yolk sac and anastomose are called vitelline arteries (flow away from the embryo) and vitelline veins (flow toward the embryo).<br /> <br /> ==Prenatal Diagnosis Terms==<br /> <br /> '''false negative rate''' - The proportion of pregnancies that will test negative given that the congenital anomaly is present.<br /> <br /> '''false positive rate''' - The proportion of pregnancies that will test positive given that the congenital anomaly is absent.<br /> <br /> '''negative predictive value''' - The probability that a congenital anomaly is absent given that the prenatal screening test is negative.<br /> <br /> '''positive predictive value''' - The probability that a congenital anomaly is present given that the prenatal screening test is positive.<br /> <br /> '''pre-implantation genetic diagnosis''' - (PGD) a screening procedure for embryos produced through in vitro fertilisation (IVF) for genetic diseases that would generate developmental abnormalities or serious postnatal diseases.<br /> <br /> '''prenatal screening sensitivity''' - (detection rate) The probability of testing positive on a prenatal screening test if the congenital anomaly is present.<br /> <br /> '''prenatal screening specificity''' - The probability of testing negative on a prenatal screening test if the congenital anomaly is absent.<br /> <br /> <br /> ==Glossary Links==<br /> <br /> :[[A|A]] | [[B|B]] | [[C|C]] | [[D|D]] | [[E|E]] | [[F|F]] | [[G|G]] | [[H|H]] | [[I|I]] | [[J|J]] | [[K|K]] | [[L|L]] | [[M|M]] | [[N|N]] | [[O|O]] | [[P|P]] | [[Q|Q]] | [[R|R]] | [[S|S]] | [[T|T]] | [[U|U]] | [[V|V]] | [[W|W]] | [[X|X]] | [[Y|Y]] | [[Z|Z]] | [[Numbers|Numbers]]<br /> <br /> =References=<br /> &lt;references/&gt;<br /> <br /> == 2010 ANAT2341 Group Projects ==<br /> <br /> [[2010_Group_Project_1|Project 1 - Ultrasound]] | [[2010_Group_Project_2|Project 2 - Chorionic villus sampling]] | [[2010_Group_Project_3|Project 3 - Amniocentesis]] | [[2010_Group_Project_4|Group Project 4 - Percutaneous Umbilical Cord Blood Sampling]] | [[2010_Group_Project_5|Project 5 - Fetal Fibronectin]] | [[2010_Group_Project_6|Project 6 - Maternal serum alpha-fetoprotein]] | [[ANAT2341_2010_Students|Students Page]]<br /> <br /> <br /> {{Template:Footer}}<br /> [[Category:2010ANAT2341]] [[Category:Science-Undergraduate]]</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=2010_Group_Project_2&diff=39530 2010-10-06T02:03:48Z

<p>Z3265772: /* Future of Chorionic Villus Sampling and Prenatal diagnosis techniques */</p> <hr /> <div>[[File:Embryo_11-14_weeks.jpg|right|400 px]]<br /> <br /> ='''Chorionic Villus Sampling (CVS)'''=<br /> <br /> =Introduction=<br /> <br /> [[Image:Gray31.png|thumb|350px|right|Grays]]<br /> <br /> <br /> Chorionic villus sampling or CVS is a type of prenatal diagnosis test performed in the first trimester to detect major fetal abnormalities such as down syndrome, cystic fibrosis and tay-sachs disease, among many others. In the procedure, tissue is withdrawn from small finger like projections on the placenta called chorionic villi and tested for chromosomal defects. It is commonly performed between 10 and 12 weeks of pregnancy. <br /> The advantage of CVS over other procedures is that the result is available approx 6 weeks earlier in the pregnancy, so if a termination is needed, it can be done earlier which is much safer, rather than later in the pregnancy, which can carry more risks. &lt;ref&gt;Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., de, l.C., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Lubs, H.A., Mahoney, M.J., Pergament, E., Simpson, J.L., Carpenter, R.J., Elias, S., Ginsberg, N.A., Goldberg, J.D., Hobbins, J.C., Lynch, L., Shiono, P.H., Wapner, R.J. &amp; Zachary, J.M. 1989, &quot;The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities&quot;, New England Journal of Medicine, vol. 320, no. 10, pp. 609-617.&lt;/ref&gt;<br /> <br /> ''Reasons for getting chorionic villus sampling can include:''<br /> <br /> -History of genetic disorders in the family<br /> <br /> -Parents have already had a child with a disorder such as down syndrome or cystic fibrosis<br /> <br /> -Abnormal ultrasound result<br /> <br /> -Maternal age of 35 or older, which increases the risk of chromosomal defects such as down syndrome<br /> <br /> <br /> =Historic background=<br /> <br /> <br /> '''Brief timeline of CVS use'''<br /> <br /> *1968 - Mohr in Scandinavia introduced the concept of prenatal diagnosis using chorionic villi sampling &lt;ref&gt;&lt;pubmed&gt;5691288&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1973 - Kullander and Sandahl and Hahnemann in 1974 showed further study into chromosomal analysis from CVS &lt;ref&gt;&lt;pubmed&gt;4766093&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1975 - from the Department of Obstetrics and Gynaecology at the Tietung Hospital in Anshan, China was successful in using CVS to determine sex of fetuses for sex pre selection. &lt;ref&gt;&lt;pubmed&gt;811431&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1980 - Kazy et al. were the first to use ultrasound guidance during chorionic villi sampling. &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1981 - Niazi et al. improved methods for culturing of fibroblasts from trophoblast villi. &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1983 - Ward performed transcervical CVS with 67% success rate. In the same year, the Brombati group demonstrated and 96% success rate with obtaining villi with the aid of ultrasound guidance &lt;ref&gt;&lt;pubmed&gt;6463023&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1984 - Smidt-Jensen and Hahnemann introduced transabdominal CVS under ultrasound guidance &lt;ref&gt;&lt;pubmed&gt;4088973&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1986 - The Golbus group had a 3.8% miscarriage rate, and subsequently many other clinics started reporting a much lower rate of miscarriage at 1.7% making the procedure safe for routine use &lt;ref&gt;&lt;pubmed&gt;3717235&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> ===Jan Mohr (1921-2009)===<br /> [[Image:Jan_Mohr.jpg|thumb|200px|left|Jan Mohr]]<br /> <br /> <br /> '''1968 -- Concept of CVS introduced'''<br /> <br /> In 1968 Jan Mohr introduced the concept of prenatal diagnosis using the CVS technique. &lt;ref&gt;&lt;pubmed&gt;5691288&lt;/pubmed&gt;&lt;/ref&gt; He used the transcervical method to get a biopsy of the chorion using an endoscope as the source of vision. The current technique differs by using mostly transabdominal access with ultrasound instead of an endoscope. He reported a 96% success rate in obtaining chorionic material but with a high incidence of bleeding and infection. The approach was abandoned as amniocentesis became more popular due to higher safety levels<br /> <br /> <br /> <br /> '''1973-1975 -- Further study into chromosomal analysis from CVS'''<br /> <br /> Kullander and Sandahl in 1973 and Hahnemann in 1974 further researched fetal chromosome analysis using transcervical biopsy before termination in early pregnancies. &lt;ref&gt;&lt;pubmed&gt;4766093&lt;/pubmed&gt;&lt;/ref&gt; In 1975 the first successful diagnostic use of chorionic villi was reported at the Tietung Hospital in China. &lt;ref&gt;&lt;pubmed&gt;811431&lt;/pubmed&gt;&lt;/ref&gt; This is where fetal sex was diagnosed for the purpose of sex pre-selection. They claimed to have 94% diagnosis success and only 4% miscarriage rate. Researchers in the United States were, however unable to duplicate the results and so the idea of CVS diagnosis was again abandoned for some time.<br /> <br /> <br /> '''1980-1983 -- Change from endoscopic examination to ultrasound to guide CVS'''<br /> <br /> With the invention of the ultrasound and advancement in molecular genetics, an earlier prenatal diagnosis was now sought after. So Kazy et al. in 1980, began using both the endoscope and the ultrasound for fetal sexing on chorion biopsies. This was the first report of using ultrasound guidance during chorion sampling. After Kazy et.al. began using the ultrasound for guidance, many others followed. Niazi et al., Ward and the Brombati group all started using ultrasound guided CVS. Techniques quickly improved and success rate of obtaining chorionic material rose from 75% to 96% &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> '''1984-1986 -- The introduction of transabdominal CVS'''<br /> <br /> In 1984, Smidt-Jensen and Hahnemann in Copenhagen introduced transabdominal CVS using ultrasound guidance. &lt;ref&gt;&lt;pubmed&gt;6463023&lt;/pubmed&gt;&lt;/ref&gt; With less chance of infective complications the procedure has become more popular than the transcervical method in many prenatal diagnostic centers. Other ultrasonic techniques and modifications were explored by the Brambati and Simoni group and the Golbus group in 1985. &lt;ref&gt;&lt;pubmed&gt;4088973&lt;/pubmed&gt;&lt;/ref&gt; The Golbus group reported in 1986 a miscarriage rate of 3.8%. &lt;ref&gt;&lt;pubmed&gt;3717235&lt;/pubmed&gt;&lt;/ref&gt; Subsequently, many other centres reported a much lower miscarriage rate of 1.5% which made the procedure safe for routine use.<br /> <br /> ==Table Comparing Prenatal Diagnosis Techniques==<br /> <br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ This table shows invasiveness and timeframe for some prenatal diagnostic techniques<br /> ! Invasiveness !! Diagnostic technique !! Comments !! Time that procedure can be performed !! Diagram<br /> |-<br /> |Non Invasive<br /> |[[2010_Group_Project_1|Ultrasound]]<br /> |'''Tests for:''' neural tube defects, chromosomal abnormalities and congenital heart abnormalities<br /> <br /> '''Risks:''' No risks currently indicated for ultrasound use in prenatal diagnosis. <br /> <br /> This test uses high frequency sound waves through a transmitting device, which construct a picture of the fetus when the waves are reflected and received back by the transmitter. Due to no known risks, ultrasound use is used routinely in pregnancies and is the first port of call for prenatal diagnosis. If a potential abnormality is found or the parents are high risk, then a more invasive diagnostic technique may be recommended. The type of diagnostic technique used depends on the potential abnormality found. &lt;ref&gt;Kremkali, F.W. (2006) Diagnostic Ultrasound Principles and Instruments (7th ed.) St Louis: Saunders Elsevier. pp3-5&lt;/ref&gt;[[2010_Group_Project_1|More about Ultrasound]]<br /> |Weeks 18-20<br /> |[[File:ZConvex_Array_Transducer.jpg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> |'''Tests for:''' chromosomal abnormalities and genetic abnormalities <br /> <br /> '''Risks:''' Miscarriage (1%), some of the side effects include dizziness, abdominal discomfort, cramping, haemorrhage, infection, ruptured amniotic sac, increased risk of limb defects if the test was performed at nine weeks’ gestation or earlier &lt;ref&gt;Alfirevic, Z., K. Sundberg, et al. 2008. &quot;Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review).&quot; Cochrane Database of Systematic Reviews 4: 1-134.&lt;/ref&gt;<br /> <br /> With the guidance of Ultrasound, a needle is inserted in to the abdomen or through the cervix and a small sample of chorionic villi from the placenta are obtained. This sample is sent to a cytogenetics laboratory where the cells are cultured and stained, and photographed to view chromosomes <br /> |Weeks 10-12<br /> |[[File:Transabdominal_CVS.jpg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_3|Amniocentesis ]] <br /> |'''Tests for:''' chromosomal abnormalities, fetal infections, and genetic abnormalities<br /> <br /> '''Risks:''' Miscarriage &lt;1%, stillbirths 3%, and small risk of infection. &lt;ref&gt;&lt;pubmed&gt;PMC2464303&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> A needle is inserted in to the uterus where a sample of the amniotic fluid surrounding the fetus is taken. This procedure is usually done with the guidance of ultrasound so the physician can see where the needle is being inserted. The amniotic fluid is analysed for abnormalities. [[2010_Group_Project_3|More about Amniocentesis ]]<br /> |Weeks 15-16<br /> |[[File:Process_of_amniocentesis.jpeg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_4|Percutaneous Umbilical Cord Blood Sampling]]<br /> |'''Tests for:'''chromosomal abnormalities, blood disorders, some metabolic disorders, fetal infections, and some causes of structural problems.<br /> <br /> '''Risks:'''Miscarriage &lt;2%, Preterm labour, fetal bradycardia, bleeding of the umbilical cord. &lt;ref&gt;&lt;pubmed&gt;16530195&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> A small needle is inserted in to the abdomen of the mother and a sample of blood is taken from the umbilical vein in the umbilical cord. This technique is often used when other diagnostic techniques are inconclusive, but should be used with caution as carries higher risk rates. The benefit of Percutaneous Umbilical Cord Blood Sampling is that the results are available much faster, within 72 hours of testing. CVS and amniocentesis tests need culturing and therefore take up to 11 days for a result. [[2010_Group_Project_4|More about Percutaneous Umbilical Cord Blood Sampling]]<br /> |Weeks 18-22<br /> |[[File:Placenta_Anterior.jpg|right|150 px]]<br /> |-<br /> |Less Invasive<br /> |[[2010_Group_Project_5|Fetal Fibronectin]]<br /> |'''Tests for:'''determines the likelihood of premature birth in women of high risk<br /> <br /> '''Risks:'''No known risks for the testing of Fetal Fibronectin, as is it less invasive than other techniques.<br /> <br /> Fetal Fibronectin is only found in the uterus until the onset of labour when is secretes in through the cervix. In this procedure, a sample of the cervico-vaginal secretions are taken and sent to the lab for testing. If the test comes out positive for Fetal Fibronectin in the vagina, the mother has a chance of going into premature labour. [[2010_Group_Project_5|More about Fetal Fibronectin]]<br /> |Weeks 24-34<br /> |[[File:FetalFN.jpg|right|150 px]]<br /> |-<br /> |Non Invasive<br /> |[[2010_Group_Project_6|Maternal serum alpha-fetoprotein]]<br /> |'''Tests for:'''AFP is a type of screening test and do not diagnose problems, but signal whether further testing is needed. Normal AFP levels are increased in Neural Tube Defects and Omphalocoele &amp; decreased in Down Syndrome.<br /> <br /> '''Risks:'''No known risks as Maternal serum alpha-fetoprotein is non invasive<br /> <br /> A blood sample is taken from the mother and alpha-fetoprotein levels are measured in the lab. These measurements can determine the risk level of certain abnormalities in the fetus. The advantage is that it is non invasive, but the disadvantage is that it has a very high false positive rate, so many mothers have gone on to have amniocentesis or chorionic villus sampling to find nothing is wrong with the baby. This can be overcome by having another alpha-fetoprotein test before getting amniocentesis or chorionic villus sampling. [[2010_Group_Project_6|More about Maternal serum alpha-fetoprotein]]<br /> |Weeks 15-20<br /> |[[File:Enzyme_immunoassay.jpg|right|150 px]]<br /> |-<br /> |}<br /> <br /> =Description of technique=<br /> [[File:Gray37.png|right|thumb|280px|Sample is taken from the chorionic villi]]<br /> [[File:transabdominal_CVS.jpg|right|thumb|280px|Transabdominal Technique]]<br /> [[File:transcervicalCVS.jpg|right|thumb|280px|Transcervical Technique]]<br /> <br /> The CVS procedure involves taking a sample of the chorion frondosum — the part of the chorionic membrane containing the villi. Between 10-12 weeks of pregnancy, the developing gestational sac is composed of a thick, outer chorionic membrane surrounding the amniotic cavity, a thin amniotic membrane and the chorionic cavity. The chorionic villi have now degenerated over most of the outer membrane, forming the chorion laeve, and the remaining villi fuses and embeds loosely into the decidua basalis. This forms the chorion frondosum, which will ultimately become the placenta. At this stage, the villi float freely in the blood of the intervillus space. Each villi is branched, and is composed of an outer syncytiotrophoblast and an inner cytotrophoblast layer. Within the centre of each villus is a mesenchymal core which contain capillaries carrying fetal blood. In CVS, usually samples of both cells lines (cytotrophoblasts and mesenchymal cells) are obtained. Chromosomal analysis of these cell lines can be performed by means of direct preparations, short-term cultures (cytotrophoblasts), or long-term cultures (mesenchymal cells) of the chorionic villi.&lt;ref&gt;Jenkins, T.M, Wapner, R.J, 1999. First trimester prenatal diagnosis: Chorionic villus sampling. Seminars in Perinatology. pp403-413.&lt;/ref&gt; <br /> <br /> CVS can be performed in two ways, through the cervix (transcervical) or through the abdomen (transabdominal). Both techniques are equally safe when performed by an experienced technician, however miscarriage rates are somewhat higher when done through the cervix. Prior to the procedure, an abdominal ultrasound can be performed to locate the position of the uterus, and the placenta. A full bladder is not required. Depending on the type of method performed, the vulva, vagina, cervix or abdomen are cleaned with antiseptic. The procedure normally takes only 1-2 minutes to perform and the patient is able to leave the clinic within the hour after the fetus is checked.&lt;ref&gt;Melbourne Ultrasound for Women. Chorionic Villus Sampling. Accessed 5 September 2010. http://www.nevdgp.org.au/info/melb_us/cvs_melb.htm&lt;/ref&gt; <br /> <br /> ===Transabdominal Procedure===<br /> <br /> # A local anaesthetic is first applied to the abdomen.&lt;br&gt;<br /> # A thin hollow needle is then inserted through the abdomen into the uterus and into the edge of the placenta where the chorion is located. An ultrasound transducer is commonly used to guide the needle during the procedure. &lt;br&gt;<br /> # A finer syringe needle is then passed through the outer needle, and the tissue is then drawn.&lt;br&gt;<br /> # The sample is taken to the laboratory for testing. <br /> <br /> ===Transcervical Procedure===<br /> # A speculum is inserted in the vagina and the area is cleaned with antiseptic.&lt;br&gt;<br /> # With the help of ultrasound imaging, a thin cannula is then inserted through the cervix and uterus and into the placenta.&lt;br&gt;<br /> #The tissue sample is then taken up through the cannula.&lt;br&gt;<br /> &lt;ref&gt;&lt;pubmed&gt;20154617&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> After the sample is taken to the laboratory, the cells are grown until there are enough cells for chromosome testing. The results normally take up to 2 weeks to complete.<br /> <br /> ===Complications===<br /> <br /> Some of the side effects and complications after a CVS procedure can include:<br /> <br /> * Dizziness <br /> * Abdominal discomfort<br /> * Cramping<br /> * Haemorrhage<br /> * Infection<br /> * Ruptured amniotic sac<br /> * Increased risk of limb defects if the test was performed at nine weeks’ gestation or earlier<br /> * Premature delivery<br /> &lt;ref&gt;Alfirevic, Z., K. Sundberg, et al. 2008. &quot;Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review).&quot; Cochrane Database of Systematic Reviews 4: 1-134.&lt;/ref&gt;<br /> <br /> Additional complications can involve technical errors such as failure of the specimen to grow sufficiently in the laboratory and uncertain laboratory results. If this occurs, amniocentesis is still an option after 15 weeks.<br /> <br /> ===Results and Accuracy===<br /> <br /> The accuracy of CVS to detect chromosome abnormalities is quite high, at around 98-99% &lt;ref&gt;Hall, Judith G. &quot;Chromosomal Clinical Abnormalities.&quot; In Nelson Textbook of Pediatrics. Edited by Richard E. Behrman et al. Philadelphia: Saunders, 2004.&lt;/ref&gt;. Although it has a high accuracy rate to diagnose most major chromosomal problems, CVS does have some limitations. Having a negative result for an abnormality does not rule out ALL genetic defects the baby may have. Comparatively to amniocentesis, CVS does NOT detect neural tube defects such as spina bifida, or anencephaly. <br /> The type of chromosome abnormalities detected by CVS will be further discussed in detail below.<br /> <br /> ===Limitations===<br /> [[file:Double_tetrasomy_18_mosaicism.jpg‎|thumb|250 px|Example of a child with double tetrasomy 18+ mosaicism.]]<br /> <br /> '''Maternal contamination'''<br /> <br /> Since the villus sample also involves maternal cells, there is a possibility that they may take over the laboratory culture instead, consequently leading to the mother's cells being tested instead of the fetus's cells. The risk of this happening is low however and is decreased when the sample contains an adequate amount of fetal cells.<br /> <br /> <br /> '''Mosaicism'''<br /> <br /> &quot;Mosaicism&quot; occurs when both abnormal and normal cells are found in the chorionic villi. Mosaicism can involve both the fetus (true fetal mosaicism) and the placental tissues or the placental tissues alone. When this happens, cells that multiply from these abnormal cells may develop a chromosome anomaly.<br /> What can result is that in certain body organs the fetus has a combination of cells that are abnormal and normal in genetic structure. <br /> The rate of the placental type occuring is found in 1-2% of pregnancies detected by CVS.&lt;ref&gt;&lt;pubmed&gt;9316125&lt;/pubmed&gt;&lt;/ref&gt; When mosaicism is detected by CVS, the limitation lies in the inability to conclude that the baby itself and not just the placental tissues will share the mosaicism. Even if the baby is affected, it will be unclear as to what percentage of the fetal cells and the type of organs that will be affected.&lt;ref&gt;Trofatter. K.F. 2008. Chromosomal Mosaicism Detected at the Time of Chorionic Villus Sampling. Accessed on 15 September 2010. http://www.healthline.com/blogs/pregnancy_childbirth/2008/03/chromosomal-mosaicism-detected-at-time.html&lt;/ref&gt;<br /> <br /> =Risks=<br /> <br /> <br /> When Chorionic Villus Sampling is performed, a small sample of the placenta is removed for analysis. The placenta contains fetal material, therefore can reveal genetic defects which may lead to problems or abnormalities. &lt;ref&gt;&lt;pubmed&gt;20664398&lt;/pubmed&gt;&lt;/ref&gt; This prenatal test can be performed as early as 11 weeks into the pregnancy, this is earlier than many prenatal diagnosis tests, which is why many parents choose CVS as they can have solid information earlier in the pregnancy. Some common risks which are not under current research include: Cramping, light blood spotting, pain, fever and chills, leakage (which can be a major concern as it can lower amniotic fluid to a dangerous level for the infant), and potential for missing fingers and toes in the newborn. For this reason, the procedure is only recommended for women who are at least 11 weeks pregnant. &lt;ref&gt;&lt;pubmed&gt;20051662&lt;/pubmed&gt;&lt;/ref&gt; The other major risks that are currently being researched are outlined below<br /> <br /> ====Transabdominal vs Transcervical CVS. Comparison of risks====<br /> <br /> <br /> [[File:CVS_Table.jpg|left|thumb|280px|Transabdominal vs Transcervical risks]]<br /> <br /> This table shows the symptoms of women approximately 3 days after sampling. The table shows women who had undergone transcervical sampling had higher frequencies of fluid leakage, vaginal spotting, and bleeding. When a tenaculum is not used, the frequency of vaginal spotting and bleeding persisted in the transcervical-sampling group. Only two women, both in the transcervical-sampling group, had a temperature above 38°C. &lt;ref&gt;Jackson, L.G., Zachary, J.M., Fowler, S.E., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Mahoney, M.J., Pergament, E., Simpson, J.L., Black, S. &amp; Wapner, R.J. 1992, &quot;A Randomized Comparison of Transcervical and Transabdominal Chorionic-Villus Sampling&quot;, New England Journal of Medicine, vol. 327, no. 9, pp. 594-598.&lt;/ref&gt;<br /> <br /> <br /> ====Miscarriage====<br /> <br /> One of the biggest risks of Chorionic Villus Sampling is miscarriage. In one to 100 or 200 cases, the procedure is linked with miscarriage. &lt;ref&gt;&lt;pubmed&gt;19155918&lt;/pubmed&gt;&lt;/ref&gt; In an experienced clinic, this rate may go down to one in 300 to 400. To lower the risk of miscarriage with Chorionic Villus Sampling, it is recommended the procedure be performed by an experienced clinician<br /> <br /> <br /> ====Oligohydramnios====<br /> <br /> Oligohydramnios is a condition due to low amniotic fluid level, which is caused by amniotic fluid leakage. Amniotic fluid leakage is typically caused by fetal urinary tract abnormalities such as Potter's syndrome, polycystic kidneys, or genitourinary obstruction. But leakage can sometimes be caused by sampling of the chorionic villi due to insertion of the needle. If the resulting oligohydramnios is not treated and the amniotic fluid continues to leak it can result in the baby developing hypoplastic lungs (underdeveloped lungs). &lt;ref&gt;&lt;pubmed&gt;17694578&lt;/pubmed&gt;&lt;/ref&gt;&lt;br&gt;&lt;br&gt;<br /> <br /> <br /> '''Why would you use CVS over other techniques?'''<br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ Advantages and Disadvantages of Chorionic Villus Sampling<br /> ! Advantages !! Disadvantages <br /> |-<br /> |Can be performed earlier in pregnancy than amniocentesis (at around ten weeks).<br /> <br /> Results are available faster<br /> <br /> Cells obtained are mitotically active<br /> <br /> Amount of tissue obtained is preferable for DNA analysis.<br /> <br /> It is almost 100% reliable in detecting chromosomal and genetic defects.<br /> |It carries a slightly higher risk of miscarriage (1%-2%) than does amniocentesis<br /> <br /> It's less commonly available than amniocentesis, and fewer doctors are experienced in the procedure.<br /> <br /> It entails a greater risk of distorted results than does amniocentesis due to presence of mother's cells in the sample and discrepancies between chorionic villi and fetal genes.<br /> <br /> Metabolic disorders are difficult to diagnose and must be confirmed with amniocentesis.<br /> <br /> Because of the early gestational age at which the test is performed, fetal anatomy cannot be seen as well as it can at the time amniocentesis is performed.<br /> |-<br /> |}<br /> &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt;<br /> <br /> =Abnormalities found by CVS prenatal diagnostic technique=<br /> <br /> [[File:Down-normal.gif|right|thumb|280px|Normal]]<br /> <br /> [[File:Down-extra.gif|right|thumb|280px|third copy of chromosome 21]]<br /> <br /> The cells collected by CVS are sent to a cytogenetics laboratory. There the cells are cultured (stimulated to grow and divide) for 10-14 days. After enough cells are obtained, a banded karyotype is performed. This means that the fetal chromosomes in the cultured cells are stained and subsequently photographed. The photographed chromosomes are then ordered by number, counted and checked for structural abnormalities. There should be 46 chromosomes, 23 pairs. A boy's karyotype is described as 46,XY and a girl's karyotype is described as 46,XX.&lt;ref&gt;Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., de, l.C., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Lubs, H.A., Mahoney, M.J., Pergament, E., Simpson, J.L., Carpenter, R.J., Elias, S., Ginsberg, N.A., Goldberg, J.D., Hobbins, J.C., Lynch, L., Shiono, P.H., Wapner, R.J. &amp; Zachary, J.M. 1989, &quot;The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities&quot;, New England Journal of Medicine, vol. 320, no. 10, pp. 609-617. &lt;/ref&gt;<br /> <br /> <br /> <br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ This table shows what disorders CVS detects, the cause, frequency and any comments<br /> ! Disorder !! Cause !! Comments !! Frequency !! Picture <br /> |-<br /> |[[ Trisomy 21 | Down Syndrome ]]<br /> |A third copy of chromosome 21<br /> <br /> Normally, there are only two copies of this chromosome<br /> |The average IQ of children with Down syndrome is around 50, compared to normal children with an IQ of 100. Complications for people with down syndrome include: congenital heart defects, gastroesophageal reflux disease, recurrent ear infections, obstructive sleep apnea, and thyroid dysfunctions. &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt; The picture shows a newborn infant with Down Syndrome (Trisome 21)<br /> |Approximately 1 in 1,000 births &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt;<br /> |[[File:Trisomy_21_newborn.jpg|right|200 px]]<br /> |-<br /> |[[ Trisomy 13 | Trisomy 13 ]]<br /> |A third copy of chromosome 13<br /> <br /> Normally, there are only two copies of this chromosome<br /> |Also called Patau syndrome. This abnormality causes mental and motor abnormalities, polydactyly (extra digits), kidney defects, abnormal genitalia and heart defects, among many others. &lt;ref&gt;Driscoll, D.A. &amp; Gross, S. 2009, &quot;Prenatal Screening for Aneuploidy&quot;, New England Journal of Medicine, vol. 360, no. 24, pp. 2556-2562. &lt;/ref&gt; The picture shows an infant with polydactyly, a potential complication of Trisome 13<br /> |Less than 1% <br /> |[[File:220px-Patauhand.PNG|right|200 px]]<br /> |-<br /> |[[ Trisomy 18 | Trisomy 18 ]]<br /> |A third copy of chromosome 18<br /> <br /> Normally, there are only two copies of this chromosome<br /> |Also known as Edwards syndrome. It has a very low survival rate, due to: kidney and heart defects, intestines protruding outside the body, mental abnormalities, growth disorders, feeding and breathing difficulties. &lt;ref&gt;Driscoll, D.A. &amp; Gross, S. 2009, &quot;Prenatal Screening for Aneuploidy&quot;, New England Journal of Medicine, vol. 360, no. 24, pp. 2556-2562. &lt;/ref&gt; The picture shows a clenched hand and overlapping fingers: index finger overlaps third finger and fifth finger overlaps fourth finger, characteristically seen in Trisomy 18.<br /> |1 in 3,000 conceptions and approximately 1 in 6,000 live births <br /> |[[File:200px-Overlapping_fingers.JPG|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Cystic_fibrosis Cystic Fibrosis]<br /> |A mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR) in chromosome 7.<br /> |An autosomal recessive disease that causes excessive sticky mucous to form on mucosal surfaces effecting the digestive and respiratory organs. &lt;ref&gt;Levison, J.H., Barbieri, R.L., Katz, J.T. &amp; Loscalzo, J. 2010, &quot;Hard to Conceive&quot;, New England Journal of Medicine, vol. 363, no. 10, pp. 965-970. &lt;/ref&gt; The picture shows clubbing of the fingers in a person with cystic fibrosis<br /> |Approx 1 in 3,000 <br /> |[[File:220px-ClubbingCF.JPG|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Hemoglobinopathy Hemoglobinopathy]<br /> |Structural abnormalities in the globin proteins <br /> |Multiple types of abnormal haemoglobins exist including Haemoglobin S, C E and D that alter the structure of these proteins. A common defect is sickle cell disease.&lt;ref&gt;Abboud, M.R. 2009, &quot;Hematopoietic Stem-Cell Transplantation for Adults with Sickle Cell Disease&quot;, New England Journal of Medicine, vol. 361, no. 24, pp. 2380-2381. &lt;/ref&gt;<br /> |Hemoglobinopathies are a genetic defect and therefore an inherited disorder, frequency depends on which particular hemoglobinopathy is being discussed, eg. in the case of Sickle cell disease, it is estimated that 7% of worlds population are carriers<br /> |[[File:Series_10-09.jpg|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease Tay Sachs Disease]<br /> |mutations on chromosome 15 in the HEXA gene <br /> |It is a rare autosomal recessive defect inherited from parents that are carriers for the disease. Affected individuals suffer from premature nerve cells death in the brain. &lt;ref&gt;&lt;pubmed&gt;20100466&lt;/pubmed&gt;&lt;/ref&gt;<br /> |Approx 1 in 300 are carriers<br /> |[[File:220px-Autorecessive.svg.png|right|200 px]]<br /> |-<br /> |}<br /> <br /> =Outcomes=<br /> <br /> Since CVS is able to detect a variety of chromosome abnormalities, there is a chance that the baby may be affected with a defect. If the test results are normal however, this does not exclude other congenital defects and neural tube defects that can occur that can be detected by other prenatal diagnosis methods. IF the test result is positive and a defect is detected by CVS, the mother has several options available. One is to terminate the pregnancy and the other is to seek treatment after the baby is born. If the mother chooses to terminate the pregnancy, doctors have a responsibility to educate the mother and offer counseling.<br /> <br /> Doctors should:<br /> <br /> *Give parents information about the defect so that they can be prepared.<br /> *Talk to parents about the baby's predicted quality of life.<br /> *Should explain any procedures that will be done to the baby after he is born.<br /> *Doctors should do their best to tell parents what the problem is and how serious it is.<br /> <br /> Abortion is the termination of pregnancy, with the removal of the fetus and placenta from the uterus. In Australia, abortion laws vary by state and usually allow this up to a range of about 12 - 20 weeks into the pregnancy, on the grounds of fetal abnormalities, endangerment of the mother and other socio-economic factors.&lt;ref&gt;Cica. N., 1998. Abortion Law in Australia. Parliament of Australia, Parliamentary Library. Accessed September 29. 2010. &lt;http://www.aph.gov.au/library/pubs/rp/1998-99/99rp01.htm&gt;&lt;/ref&gt; If the mother chooses to terminate the pregnancy, counselling is usually done to make sure the parents understand the issues and ethics surrounding abortion.<br /> There are currently two ways to perform an abortion:<br /> <br /> '''Surgical abortion -''' Also called suction aspiration, or suction currette, this is the most common procedure used for first trimester abortion(up to 12 weeks) The cervix is dilated, and a tube is inserted through the cervix and a suction removes the fetus and the placenta. A curette is then used to scrape the wall of the uterus to ensure any remains are not left inside. If later in pregnancy, other surgical techniques are used. <br /> <br /> '''Medical abortion -''' ''(Note: Not applicable in this case due to CVS being performed at 10-12 weeks.)''This involves administration of a drug called mifepristone (RU486). Available for abortions earlier than 2-9 weeks, it is a low-risk and effective method instead of the surgical method earlier in pregnancy. Usage of the drug is available in many countries but is currently restricted in Australia.<br /> <br /> ===Treatment===<br /> <br /> If the mother decides to continue on with the pregnancy, treatment options are necessary for the baby after birth to maintain the health and symptoms associated with a defect. Some of these management options for some of the defects will be discussed below. <br /> <br /> '''Down Syndrome'''<br /> <br /> Treatment and therapies for Down syndrome available include the physical, medical and cognitive problems associated with Down Syndrome. Medical treatment such as surgery or medications, while early intervention programs and therapies help babies and children achieve better quality of life. For example, children with Down Syndrome have a higher risk for having many conditions such as congenital heart defects, problems with the thyroid, muscles, joint, vision and hearing problems. Medications can be used to treat these different problems, such as if the thyroid is affected, a child will benefit from taking thyroid replacement hormones. Medications aim to control the symptoms and reduce the impact the condition will have on the baby. There is no medication that can cure chromosome abnormalities. Some individuals affected with cardiac and gastrointestinal problems may also need surgery soon after birth. Regular screening for vision problems, hearing, hypothyroidism, and other medical conditions should be performed.<br /> <br /> Cognitive development can be assisted with physiotherapy and speech therapy for example. Since children with Down Syndrome can have speech problems due to their relatively small mouths and large tongue, speech therapy can help the child to communicate properly. Physical therapy is often needed since individuals with Down Syndrome have hypotonia (low muscle tone)which needs to be improved by developing motor skills.<br /> <br /> '''Trisomy 13'''<br /> <br /> Since Trisomy 13 causes a range of serious complications like congenital heart disease and brain and spinal cord abnormalities, the survival rate is low, with a median survival time of 2.5 days. &lt;ref&gt;&lt;pubmed&gt;11310997&lt;/pubmed&gt;&lt;/ref&gt; Treatment is usually directed towards the specific symptoms that are present in the affected child, which differs to each individual. In some cases, treatment may include surgical procedures to correct cleft lip and palate, or surgery to correct heart defects. This will depend upon the severity and nature of the abnormalities and symptoms.&lt;Ref&gt;Stewart, K. B., 2007. Trisomy 13 - Patau Syndrome. [Fact sheet] Centre for Genetics Education. Accessed 29 September, 2010. &lt;http://www.genetics.com.au/pdf/factsheets/fs29.pdf&gt;&lt;/ref&gt;<br /> <br /> '''Cystic fibrosis'''<br /> <br /> There is currently no cure for cystic fibrosis, but various treatment methods can manage the symptoms of lung and digestive problems, liver and gallbladder diseases and infertility. Digestive problems can be corrected by having a diet that is low in fat and high in protein, with vitamin supplements. Regular antibiotics are prescribed to prevent and to treat lung infections, and mucolytics are needed to make the mucous less sticky. Other methods to dislodge and remove mucous is manual chest physiotherapy, where it consists of bronchial drainage done manually or mechanically. Manual drainage can be done by performing controlled breathing techniques or the chest is vibrated or clapped to dislodge the mucous out of the airways. &lt;ref&gt;&lt;pubmed&gt;18079549&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> '''Tay-sachs disease'''<br /> <br /> The prognosis for babies with the condition is usually poor, with children living to the age of 4-5.&lt;ref&gt;National Institute of Neurological Disorders and Stroke. 2007. Tay-Sachs Disease Information Page. Accessed September 29, 2010. &lt;http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm&gt;&lt;/ref&gt; Therefore treatment for Tay-sachs disease is usually to help alleviate symptoms associated with the disease. Spasticity and siezures can be helped by administering anticonvulsants, while other supportive methods include respiratory care to keep the airway open and proper nutrition and hydration.<br /> <br /> =Ethical concerns=<br /> <br /> =Current associated research=<br /> <br /> Chorionic Villus Sampling (CVS) is one of many prenatal diagnostic tools for expectant mothers, it is popular since it can be used to identify potential problems with a fetus at a very early stage. However, the procedure does carry some risks, as does any invasive diagnostic procedure. As chorionic villus sampling is a relatively new technique, made available for safe routine use only 20 years ago, the current associated research is mainly associated with risks associated with the procedure, and ways to overcome these risks. The next section in this page will discuss the current research on CVS and the risks involved in the procedure, and not what the test results may find. <br /> <br /> ====Hypertensive disorders of pregnancy====<br /> <br /> Hypertension, or high blood pressure, is a condition where systemic arterial blood presssure is elevated. Hypertension is one of the most common medical problem during pregnancy, affecting about 2-3% of pregnancies.&lt;ref&gt;Gibson, P., Carson, M.P, 2010. Hypertension and Pregnancy. Accessed 29 September, 2010. &lt;http://emedicine.medscape.com/article/261435-overview&gt;&lt;/ref&gt;<br /> Pregnancy induced hypertension is a condition that can occur during and after the 20th week of pregnancy. The types of hypertensive disorders can include:<br /> <br /> [[File:Enamel_Hypoplasia_Due_to_Maternal_Toxemia.jpg|thumb|200px|right|Enamel hypoplasia due to maternal toxemia]]<br /> <br /> *Pre-eclampsia or toxemia – Characterised as high blood pressure above 140/90 with proteinuria (protein in the urine that is above 300mg)<br /> * Eclampsia - Developed in a pregnant woman who has had pre-eclampsia and is characterised by seizures <br /> * Gestational hypertension – arterial hypertension that occurs after the 20th week of gestation <br /> <br /> If untreated, the condition may develop into HELLP syndrome which is a serious complication noted by hemolytic aneamia, elevated liver enzymes and a low platelet count. <br /> <br /> <br /> There has been conflicting evidence in literature that suggests that CVS is associated with hypertensive disorders in pregnancy such as pre-clampsia and gestational hypertension. In several studies, such as data from the National Institute of Health that compared late CVS procedures with early amniocentesis, showed a higher rite of gestational hypertension and preeclampsia in pregnant mothers.&lt;ref&gt;&lt;pubmed&gt;15738029&lt;/pubmed&gt;&lt;/ref&gt; (5.4% for mothers who had CVS and 3.5% that had amniocentesis.) It was hypothesized that disruption and disturbance of the placenta at 13-14 weeks may increase the risk of maternal hypertension. In addition, another recent study in 2006 also reported that there was an increase in the rate of pre-clampsia in first-time expectant mothers who have had CVS.&lt;ref&gt;&lt;pubmed&gt;19455602&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> However, in a very recent data investigation of among 9098 women that were pregnant between 1990 and 2006, the overall incidence of hypertensive disorders with women who have had CVS was 2.7% compared to the control group that did not have the procedure done which was 7.1%.&lt;ref&gt;&lt;pubmed&gt;19918960&lt;/pubmed&gt;&lt;/ref&gt; Similarly, in a study conducted by The American College of Obstetricians and Gynecologists,&lt;ref&gt;&lt;pubmed&gt;20664398&lt;/pubmed&gt;&lt;/ref&gt; 31, 138 women were that were included in the investigation showed that 2.2% developed preeclampsia and 2.8% developed gestation hypertension. Only 7.8% of those individuals had previously had CVS procedure performed. <br /> <br /> Although it can be said that some woman may develop hypertensive disorders during pregnancy that have also had the CVS procedure done in the past, there is no conclusive evidence so far that definitively associates CVS with hypertensive disorders such as pre-clampsia and gestation hypertension.<br /> <br /> ====Malformations====<br /> [[File:Craniosynostosis_.jpg|right|250 px]]<br /> <br /> <br /> Many malformations were thought to be a result of more invasive prenatal diagnostic techniques such as chorionic villus sampling. These malformations include, but are not limited to, cardiac malformations, hypospadias, craniosynostosis, pyloric stenosis, inguinal hernia, polydactyly, syndactyly, hydrocephalus and cleft lip and palate. Although these studies have now confirmed no known relationship with CVS, we will mention some below. &lt;ref&gt;&lt;pubmed&gt;7937577&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> '''Craniosynostosis''' is a condition where one of the sutures of the skull prematurely fuses, this causes the other sutures to compensate in growth for the fused suture. In normal development of the skull, the sutures allow for brain growth, so if one suture fuses prematurely, the brain can not grow normally, and the other sutures over expand in compensation. In the shown image, pictures a1 and a2 show the normal development and fusing of the infant skull. b2 shows how a suture is prematurely fused and b1 shows how the abnormality shows in an infant child.<br /> Craniosyntosis may result in increased pressure on the brain and developmental delays. Treatment of craniosynostosis usually consists of surgery to the skull where a zigzag incision is made to make the hair look more natural than the scar left by a straight incision. The surgery separates the sutures that have joined together to allow the head to develop normally.<br /> <br /> &lt;ref&gt;Silver, R.K., Macgregor, S.N., Muhlbach, L.H., Knutel, T.A. &amp; Kambich, M.P. 1994, &quot;Congenital malformations subsequent to chorionic villus sampling: Outcome analysis of 1048 consecutive procedures&quot;, Prenatal diagnosis, vol. 14, no. 6, pp. 421-427. &lt;/ref&gt;<br /> <br /> [[File:Polydactyly.jpg|left|200 px]]<br /> '''Polydactyly''' is a congenital condition where an extra digit is formed. Mostly it occurs on only one hand or foot, but sometimes can occur on all limbs. The extra digit is mostly a small non-function appendage of skin, less often it is an extension of the adjacent digit, and rarely it is a fully functioning finger that arises from the wrist or ankle joint like the other digits. Polydactyly can be described as: <br /> <br /> ● postaxial polydactyly (arising from the little finger)<br /> <br /> ● preaxial polydactyly (arising from the thumb) or<br /> <br /> ● central polydactyly (arising from anywhere between the other digits)<br /> <br /> Polydactyly is seen in 1 in every 500 births, but the extra digit is usually surgically removed shortly after birth<br /> &lt;ref&gt;&lt;pubmed&gt;20661588&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> [[File:Syndactyly2.JPG|left|200 px]]<br /> '''Syndactyly''' is also a congenital condition, but is seen when digits are fused together. Syndactyly can be described as:<br /> <br /> ● simple syndactyly (where only skin is fused to the adjacent finger)<br /> <br /> ● complex syndactyly (where the bone is fused together)<br /> <br /> ● incomplete syndactyly (where fusion is only part of the way up the digit), and,<br /> <br /> ● complete syndactyly (where fusion is to the tip of the digit)<br /> <br /> The picture on the left shows an example of polysyndactyly, where the digits are both fused, and there is an extra digit.<br /> &lt;ref&gt;&lt;pubmed&gt;20811188&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> <br /> <br /> <br /> <br /> ====Hemangiomas====<br /> <br /> [[File:Capillary_haemangioma.jpg|thumb|200px|right|Hemangioma]]<br /> <br /> A hemangioma is a benign tumour growth of endothelial cells that can occur in newborns and infants. Hemangiomas can occur anywhere in the body but are often localised on the skin of the face and neck, and are characterised by a red to reddish purple raised lesion on the skin, similarly to a &quot;strawberry&quot; like appearance. Its red appearance is due to the newly formed blood vessels, which result from the malformation of angioblastic tissues of fetal life.&lt;ref&gt;&lt;pubmed&gt;7063565&lt;/pubmed&gt;&lt;/ref&gt; <br /> Most hemangiomas do not cause any serious complications, and regress later on in life, where 90% of hemangiomas in children would disappear by the age of 9. <br /> <br /> Recently, research has linked the increase in the incidence of hemangiomas in infants following CVS. It has been postulated that the mechanism of hemangioma formation is associated with the embolisation of angioblasts or endothelial cells from the placenta to the fetal skin.&lt;ref&gt;&lt;pubmed&gt;19218861&lt;/pubmed&gt;&lt;/ref&gt; Although this may link hemangiomas to placental origin, it is unclear how, or whether CVS directly interferes or enhances the formation of these lesions. However, a recent study that compared the effects of CVS and amniocentesis on the prevalence of hemangiomas in infants showed that 27% of the study group had hemangiomas with CVS compared to 9.4% in children with hemangiomas and amniocentesis. &lt;ref&gt;&lt;pubmed&gt;20824891&lt;/pubmed&gt;&lt;/ref&gt; Furthermore, in an previous study conducted in 1995, there was a threefold increase in incidence after trancervical procedure was done, compared to amniocentesis.&lt;ref&gt;Lo, K., Mihm, M. &amp; Fay, A. 2009, &quot;Current Theories on the Pathogenesis of Infantile Hemangioma&quot;, Seminars in ophthalmology, vol. 24, no. 3, pp. 172-177. &lt;/ref&gt;&lt;ref&gt;&lt;pubmed&gt;7784377&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> =Future of Chorionic Villus Sampling and Prenatal diagnosis techniques=<br /> <br /> Prenatal diagnosis has been used to detect chromosomal abnormalities, especially Down’s syndrome, for over 30 years. As we have discussed on this page, the most common forms of prenatal diagnosis are amniocentesis, CVS and ultrasound. The type of test used depends on the history of the parents, any abnormalities detected in the initial ultrasound examination, and preferences of the parents. Testing for chromosomal abnormalities using amniocentesis and CVS is invasive and somewhat time consuming. Some recent advancements in this field include the use of fluorescence in situ hybridisation (FISH), quantitative fluorescence-PCR techniques , and comparative genomics. Although these techniques are currently still invasive, the waiting time for these tests is usually only 1 to 2 days for chromosomal abnormalities. &lt;ref&gt;&lt;pubmed&gt;20014413&lt;/pubmed&gt;&lt;/ref&gt; This waiting time would mean a much less stressful waiting period for the parents. The future of prenatal diagnosis certainly lies in the field of non invasive techniques, and research in the field of prenatal diagnosis is looking toward making detection of abnormalities non invasive, using the fetal cells from maternal circulation. &lt;ref&gt;&lt;pubmed&gt;20014413&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> fluorescence in situ hybridisation (FISH):<br /> <br /> quantitative fluorescence-PCR techniques:<br /> <br /> comparative genomics:<br /> <br /> =Useful links=<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Wikipedia'''[http://en.wikipedia.org/wiki/Chorionic_villus_sampling Chorionic villus sampling]<br /> <br /> '''Fact sheets''' [http://www.thewomens.org.au/ChorionicVillusSamplingCVS Chorionic villus sampling]<br /> <br /> '''Images''' [http://www.google.com.au/images?q=chorionic+villus+sampling&amp;oe=utf-8&amp;rls=org.mozilla:en-US:official&amp;client=firefox-a&amp;um=1&amp;ie=UTF-8&amp;source=univ&amp;ei=yCWcTKT-NsircY-nzNEJ&amp;sa=X&amp;oi=image_result_group&amp;ct=title&amp;resnum=4&amp;ved=0CD4QsAQwAw&amp;biw=1280&amp;bih=615 Chorionic villus sampling]<br /> <br /> '''You tube video of procedure''' [http://www.youtube.com/watch?v=0XUZsvTkEnw Chorionic villus sampling]<br /> <br /> =Glossary=<br /> <br /> '''Amniocentesis''' - A prenatal diagnostic test involving sampling of amniotic fluid by needle aspiration for genetic analysis.<br /> <br /> '''Amnion''' - An extraembryonic membrane ectoderm and extraembryonic mesoderm in origin and forms the innermost fetal membrane, produces amniotic fluid. This fluid-filled sac initially lies above the trilaminar embryo disc and with embryoic disc folding this sac is drawn ventrally to enclose (cover) the entire embryo, then fetus.<br /> <br /> '''Amniotic cavity''' - The fluid-filled (amniotic fluid) extraembryonic coelom (cavity) formed initially by epiblast and then ectoderm and surrounding extraembryonic mesoderm. In humans, it forms the innermost fetal membrane, produces amniotic fluid expanding to fuse with the chorionic membrane during week 8 of development.<br /> <br /> '''Amniotic fluid''' - The fluid that fills amniotic cavity totally encloses and cushions the embryo.<br /> <br /> '''Cannula''' - A flexible medical tube with a sharp-pointed part at one end that is inserted into a duct, vein, or cavity in order to drain away fluid or to administer drugs<br /> <br /> '''Chorion''' - The extraembryonic membrane generated from trophoblast and extraembryonic mesoderm that forms placenta. chorion and amnion are made by the somatopleure. The chorion becomes incorporated into placental development. The avian and reptilian chorion lies beside the egg shell and allows gas exchange.<br /> <br /> '''Chorionic villus sampling (CVS)''' - The taking a biopsy of the placenta, usually at the end of the second month of pregnancy, to test the fetus for genetic abnormalities.<br /> <br /> '''Chromosome''' - double stranded DNA coiled around histones. Condenses during mitosis and meiosis.<br /> <br /> '''Ectoderm''' - One of the initial 3 germ cell layers, which will form the nervous system from the neural tube and neural crest and also generates the entire epithelial layer of the skin covering the embryo.<br /> <br /> '''Endoscope''' - a long slender medical instrument for examining the interior of a bodily organ or performing minor surgery<br /> <br /> '''Endoderm''' - One of the initial 3 germ cell layers (ectoderm, mesoderm and endoderm) formed by the process of gastrulation. The endoderm forms as a cuboidal epithelium and contributes not only to the trilaminar embryo, but also lines the yolk sac. It will form the entire epithelial lining of the gastrointestinal tract (GIT), contribute to the accessory organs of GIT and also forms the epithelial lining of the respiratory tract.<br /> <br /> '''Fetus''' - In mammals, term describes the period of development following the embryonic period. In humans, the development week 9 to 36 is the fetal stage (second and third trimester). (see fetal period above). This term is also used non-scientifically to describe the human conceptus at both embryonic and fetal stages of development.<br /> <br /> '''Gene''' - A DNA sequence that is transcribed as a single unit and encodes a single polypeptide (protein) or a set of closely related polypeptides. There are approximately 20,000-25,000 protein encoding genes in the human genome. In each cell, DNA is found within the nucleus and also within mitochondria.<br /> <br /> '''Gestation''' - The period of time from conception to birth. A pregnancy with multiple fetuses is referred to as a multiple gestation.<br /> <br /> '''Mesoderm''' - The middle layer of the 3 germ cell layers of the trilaminar embryo.<br /> <br /> '''Miscarriage''' - A general clinical term for the loss of embryo or fetus by spontaneous abortion.<br /> <br /> '''Mitosis''' - The normal division of all cells, except germ cells, where chromosome number is maintained (diploid). <br /> <br /> '''Prenatal diagnosis''' - any of the diagnostic procedures used to determine whether a fetus has a genetic abnormality<br /> <br /> '''Tenaculum''' - instrument used to grasp the cervix and keep the uterus in place during gynecological procedures.<br /> <br /> '''Termination''' - The spontaneous or artificially induced expulsion of an embryo or fetus. As used in legal context, the term usually refers to induced abortion.<br /> <br /> '''Transabdominal''' - In the transabdominal CVS technique, the physician inserts a needle through the abdomen into the placenta. This is also done with ultrasound, to guide the physician<br /> <br /> '''Transcervical''' - In the transcervical CVS technique, the physician inserts a small tube through the cervix into the placenta. This is done while ultrasound guides the physician<br /> <br /> '''Ultrasound''' - A non-invasive technique for visualizing and prenatal diagnosis of several features of development including: follicles in the ovaries, the gestational sac, fetus in the uterus, fetal parameters, and the placenta. The technique uses high-frequency sound waves that are reflected off internal structures. These reflections can then be analysed and displayed by computer.<br /> <br /> '''Villi''' - Plural of villus, which is a thin projection from a surface. A term used to describe the many functional units together of the fetal placenta. <br /> <br /> '''Vitelline arteries and veins''' - The blood vessels which form in the extraembryonic mesoderm of the yolk sac and anastomose are called vitelline arteries (flow away from the embryo) and vitelline veins (flow toward the embryo).<br /> <br /> ==Prenatal Diagnosis Terms==<br /> <br /> '''false negative rate''' - The proportion of pregnancies that will test negative given that the congenital anomaly is present.<br /> <br /> '''false positive rate''' - The proportion of pregnancies that will test positive given that the congenital anomaly is absent.<br /> <br /> '''negative predictive value''' - The probability that a congenital anomaly is absent given that the prenatal screening test is negative.<br /> <br /> '''positive predictive value''' - The probability that a congenital anomaly is present given that the prenatal screening test is positive.<br /> <br /> '''pre-implantation genetic diagnosis''' - (PGD) a screening procedure for embryos produced through in vitro fertilisation (IVF) for genetic diseases that would generate developmental abnormalities or serious postnatal diseases.<br /> <br /> '''prenatal screening sensitivity''' - (detection rate) The probability of testing positive on a prenatal screening test if the congenital anomaly is present.<br /> <br /> '''prenatal screening specificity''' - The probability of testing negative on a prenatal screening test if the congenital anomaly is absent.<br /> <br /> <br /> ==Glossary Links==<br /> <br /> :[[A|A]] | [[B|B]] | [[C|C]] | [[D|D]] | [[E|E]] | [[F|F]] | [[G|G]] | [[H|H]] | [[I|I]] | [[J|J]] | [[K|K]] | [[L|L]] | [[M|M]] | [[N|N]] | [[O|O]] | [[P|P]] | [[Q|Q]] | [[R|R]] | [[S|S]] | [[T|T]] | [[U|U]] | [[V|V]] | [[W|W]] | [[X|X]] | [[Y|Y]] | [[Z|Z]] | [[Numbers|Numbers]]<br /> <br /> =References=<br /> &lt;references/&gt;<br /> <br /> == 2010 ANAT2341 Group Projects ==<br /> <br /> [[2010_Group_Project_1|Project 1 - Ultrasound]] | [[2010_Group_Project_2|Project 2 - Chorionic villus sampling]] | [[2010_Group_Project_3|Project 3 - Amniocentesis]] | [[2010_Group_Project_4|Group Project 4 - Percutaneous Umbilical Cord Blood Sampling]] | [[2010_Group_Project_5|Project 5 - Fetal Fibronectin]] | [[2010_Group_Project_6|Project 6 - Maternal serum alpha-fetoprotein]] | [[ANAT2341_2010_Students|Students Page]]<br /> <br /> <br /> {{Template:Footer}}<br /> [[Category:2010ANAT2341]] [[Category:Science-Undergraduate]]</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=2010_Group_Project_2&diff=39527 2010-10-06T01:56:13Z

<p>Z3265772: /* Future of Chorionic Villus Sampling and Prenatal diagnosis techniques */</p> <hr /> <div>[[File:Embryo_11-14_weeks.jpg|right|400 px]]<br /> <br /> ='''Chorionic Villus Sampling (CVS)'''=<br /> <br /> =Introduction=<br /> <br /> [[Image:Gray31.png|thumb|350px|right|Grays]]<br /> <br /> <br /> Chorionic villus sampling or CVS is a type of prenatal diagnosis test performed in the first trimester to detect major fetal abnormalities such as down syndrome, cystic fibrosis and tay-sachs disease, among many others. In the procedure, tissue is withdrawn from small finger like projections on the placenta called chorionic villi and tested for chromosomal defects. It is commonly performed between 10 and 12 weeks of pregnancy. <br /> The advantage of CVS over other procedures is that the result is available approx 6 weeks earlier in the pregnancy, so if a termination is needed, it can be done earlier which is much safer, rather than later in the pregnancy, which can carry more risks. &lt;ref&gt;Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., de, l.C., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Lubs, H.A., Mahoney, M.J., Pergament, E., Simpson, J.L., Carpenter, R.J., Elias, S., Ginsberg, N.A., Goldberg, J.D., Hobbins, J.C., Lynch, L., Shiono, P.H., Wapner, R.J. &amp; Zachary, J.M. 1989, &quot;The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities&quot;, New England Journal of Medicine, vol. 320, no. 10, pp. 609-617.&lt;/ref&gt;<br /> <br /> ''Reasons for getting chorionic villus sampling can include:''<br /> <br /> -History of genetic disorders in the family<br /> <br /> -Parents have already had a child with a disorder such as down syndrome or cystic fibrosis<br /> <br /> -Abnormal ultrasound result<br /> <br /> -Maternal age of 35 or older, which increases the risk of chromosomal defects such as down syndrome<br /> <br /> <br /> =Historic background=<br /> <br /> <br /> '''Brief timeline of CVS use'''<br /> <br /> *1968 - Mohr in Scandinavia introduced the concept of prenatal diagnosis using chorionic villi sampling &lt;ref&gt;&lt;pubmed&gt;5691288&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1973 - Kullander and Sandahl and Hahnemann in 1974 showed further study into chromosomal analysis from CVS &lt;ref&gt;&lt;pubmed&gt;4766093&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1975 - from the Department of Obstetrics and Gynaecology at the Tietung Hospital in Anshan, China was successful in using CVS to determine sex of fetuses for sex pre selection. &lt;ref&gt;&lt;pubmed&gt;811431&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1980 - Kazy et al. were the first to use ultrasound guidance during chorionic villi sampling. &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1981 - Niazi et al. improved methods for culturing of fibroblasts from trophoblast villi. &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1983 - Ward performed transcervical CVS with 67% success rate. In the same year, the Brombati group demonstrated and 96% success rate with obtaining villi with the aid of ultrasound guidance &lt;ref&gt;&lt;pubmed&gt;6463023&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1984 - Smidt-Jensen and Hahnemann introduced transabdominal CVS under ultrasound guidance &lt;ref&gt;&lt;pubmed&gt;4088973&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1986 - The Golbus group had a 3.8% miscarriage rate, and subsequently many other clinics started reporting a much lower rate of miscarriage at 1.7% making the procedure safe for routine use &lt;ref&gt;&lt;pubmed&gt;3717235&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> ===Jan Mohr (1921-2009)===<br /> [[Image:Jan_Mohr.jpg|thumb|200px|left|Jan Mohr]]<br /> <br /> <br /> '''1968 -- Concept of CVS introduced'''<br /> <br /> In 1968 Jan Mohr introduced the concept of prenatal diagnosis using the CVS technique. &lt;ref&gt;&lt;pubmed&gt;5691288&lt;/pubmed&gt;&lt;/ref&gt; He used the transcervical method to get a biopsy of the chorion using an endoscope as the source of vision. The current technique differs by using mostly transabdominal access with ultrasound instead of an endoscope. He reported a 96% success rate in obtaining chorionic material but with a high incidence of bleeding and infection. The approach was abandoned as amniocentesis became more popular due to higher safety levels<br /> <br /> <br /> <br /> '''1973-1975 -- Further study into chromosomal analysis from CVS'''<br /> <br /> Kullander and Sandahl in 1973 and Hahnemann in 1974 further researched fetal chromosome analysis using transcervical biopsy before termination in early pregnancies. &lt;ref&gt;&lt;pubmed&gt;4766093&lt;/pubmed&gt;&lt;/ref&gt; In 1975 the first successful diagnostic use of chorionic villi was reported at the Tietung Hospital in China. &lt;ref&gt;&lt;pubmed&gt;811431&lt;/pubmed&gt;&lt;/ref&gt; This is where fetal sex was diagnosed for the purpose of sex pre-selection. They claimed to have 94% diagnosis success and only 4% miscarriage rate. Researchers in the United States were, however unable to duplicate the results and so the idea of CVS diagnosis was again abandoned for some time.<br /> <br /> <br /> '''1980-1983 -- Change from endoscopic examination to ultrasound to guide CVS'''<br /> <br /> With the invention of the ultrasound and advancement in molecular genetics, an earlier prenatal diagnosis was now sought after. So Kazy et al. in 1980, began using both the endoscope and the ultrasound for fetal sexing on chorion biopsies. This was the first report of using ultrasound guidance during chorion sampling. After Kazy et.al. began using the ultrasound for guidance, many others followed. Niazi et al., Ward and the Brombati group all started using ultrasound guided CVS. Techniques quickly improved and success rate of obtaining chorionic material rose from 75% to 96% &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> '''1984-1986 -- The introduction of transabdominal CVS'''<br /> <br /> In 1984, Smidt-Jensen and Hahnemann in Copenhagen introduced transabdominal CVS using ultrasound guidance. &lt;ref&gt;&lt;pubmed&gt;6463023&lt;/pubmed&gt;&lt;/ref&gt; With less chance of infective complications the procedure has become more popular than the transcervical method in many prenatal diagnostic centers. Other ultrasonic techniques and modifications were explored by the Brambati and Simoni group and the Golbus group in 1985. &lt;ref&gt;&lt;pubmed&gt;4088973&lt;/pubmed&gt;&lt;/ref&gt; The Golbus group reported in 1986 a miscarriage rate of 3.8%. &lt;ref&gt;&lt;pubmed&gt;3717235&lt;/pubmed&gt;&lt;/ref&gt; Subsequently, many other centres reported a much lower miscarriage rate of 1.5% which made the procedure safe for routine use.<br /> <br /> ==Table Comparing Prenatal Diagnosis Techniques==<br /> <br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ This table shows invasiveness and timeframe for some prenatal diagnostic techniques<br /> ! Invasiveness !! Diagnostic technique !! Comments !! Time that procedure can be performed !! Diagram<br /> |-<br /> |Non Invasive<br /> |[[2010_Group_Project_1|Ultrasound]]<br /> |'''Tests for:''' neural tube defects, chromosomal abnormalities and congenital heart abnormalities<br /> <br /> '''Risks:''' No risks currently indicated for ultrasound use in prenatal diagnosis. <br /> <br /> This test uses high frequency sound waves through a transmitting device, which construct a picture of the fetus when the waves are reflected and received back by the transmitter. Due to no known risks, ultrasound use is used routinely in pregnancies and is the first port of call for prenatal diagnosis. If a potential abnormality is found or the parents are high risk, then a more invasive diagnostic technique may be recommended. The type of diagnostic technique used depends on the potential abnormality found. &lt;ref&gt;Kremkali, F.W. (2006) Diagnostic Ultrasound Principles and Instruments (7th ed.) St Louis: Saunders Elsevier. pp3-5&lt;/ref&gt;[[2010_Group_Project_1|More about Ultrasound]]<br /> |Weeks 18-20<br /> |[[File:ZConvex_Array_Transducer.jpg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> |'''Tests for:''' chromosomal abnormalities and genetic abnormalities <br /> <br /> '''Risks:''' Miscarriage (1%), some of the side effects include dizziness, abdominal discomfort, cramping, haemorrhage, infection, ruptured amniotic sac, increased risk of limb defects if the test was performed at nine weeks’ gestation or earlier &lt;ref&gt;Alfirevic, Z., K. Sundberg, et al. 2008. &quot;Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review).&quot; Cochrane Database of Systematic Reviews 4: 1-134.&lt;/ref&gt;<br /> <br /> With the guidance of Ultrasound, a needle is inserted in to the abdomen or through the cervix and a small sample of chorionic villi from the placenta are obtained. This sample is sent to a cytogenetics laboratory where the cells are cultured and stained, and photographed to view chromosomes <br /> |Weeks 10-12<br /> |[[File:Transabdominal_CVS.jpg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_3|Amniocentesis ]] <br /> |'''Tests for:''' chromosomal abnormalities, fetal infections, and genetic abnormalities<br /> <br /> '''Risks:''' Miscarriage &lt;1%, stillbirths 3%, and small risk of infection. &lt;ref&gt;&lt;pubmed&gt;PMC2464303&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> A needle is inserted in to the uterus where a sample of the amniotic fluid surrounding the fetus is taken. This procedure is usually done with the guidance of ultrasound so the physician can see where the needle is being inserted. The amniotic fluid is analysed for abnormalities. [[2010_Group_Project_3|More about Amniocentesis ]]<br /> |Weeks 15-16<br /> |[[File:Process_of_amniocentesis.jpeg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_4|Percutaneous Umbilical Cord Blood Sampling]]<br /> |'''Tests for:'''chromosomal abnormalities, blood disorders, some metabolic disorders, fetal infections, and some causes of structural problems.<br /> <br /> '''Risks:'''Miscarriage &lt;2%, Preterm labour, fetal bradycardia, bleeding of the umbilical cord. &lt;ref&gt;&lt;pubmed&gt;16530195&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> A small needle is inserted in to the abdomen of the mother and a sample of blood is taken from the umbilical vein in the umbilical cord. This technique is often used when other diagnostic techniques are inconclusive, but should be used with caution as carries higher risk rates. The benefit of Percutaneous Umbilical Cord Blood Sampling is that the results are available much faster, within 72 hours of testing. CVS and amniocentesis tests need culturing and therefore take up to 11 days for a result. [[2010_Group_Project_4|More about Percutaneous Umbilical Cord Blood Sampling]]<br /> |Weeks 18-22<br /> |[[File:Placenta_Anterior.jpg|right|150 px]]<br /> |-<br /> |Less Invasive<br /> |[[2010_Group_Project_5|Fetal Fibronectin]]<br /> |'''Tests for:'''determines the likelihood of premature birth in women of high risk<br /> <br /> '''Risks:'''No known risks for the testing of Fetal Fibronectin, as is it less invasive than other techniques.<br /> <br /> Fetal Fibronectin is only found in the uterus until the onset of labour when is secretes in through the cervix. In this procedure, a sample of the cervico-vaginal secretions are taken and sent to the lab for testing. If the test comes out positive for Fetal Fibronectin in the vagina, the mother has a chance of going into premature labour. [[2010_Group_Project_5|More about Fetal Fibronectin]]<br /> |Weeks 24-34<br /> |[[File:FetalFN.jpg|right|150 px]]<br /> |-<br /> |Non Invasive<br /> |[[2010_Group_Project_6|Maternal serum alpha-fetoprotein]]<br /> |'''Tests for:'''AFP is a type of screening test and do not diagnose problems, but signal whether further testing is needed. Normal AFP levels are increased in Neural Tube Defects and Omphalocoele &amp; decreased in Down Syndrome.<br /> <br /> '''Risks:'''No known risks as Maternal serum alpha-fetoprotein is non invasive<br /> <br /> A blood sample is taken from the mother and alpha-fetoprotein levels are measured in the lab. These measurements can determine the risk level of certain abnormalities in the fetus. The advantage is that it is non invasive, but the disadvantage is that it has a very high false positive rate, so many mothers have gone on to have amniocentesis or chorionic villus sampling to find nothing is wrong with the baby. This can be overcome by having another alpha-fetoprotein test before getting amniocentesis or chorionic villus sampling. [[2010_Group_Project_6|More about Maternal serum alpha-fetoprotein]]<br /> |Weeks 15-20<br /> |[[File:Enzyme_immunoassay.jpg|right|150 px]]<br /> |-<br /> |}<br /> <br /> =Description of technique=<br /> [[File:Gray37.png|right|thumb|280px|Sample is taken from the chorionic villi]]<br /> [[File:transabdominal_CVS.jpg|right|thumb|280px|Transabdominal Technique]]<br /> [[File:transcervicalCVS.jpg|right|thumb|280px|Transcervical Technique]]<br /> <br /> The CVS procedure involves taking a sample of the chorion frondosum — the part of the chorionic membrane containing the villi. Between 10-12 weeks of pregnancy, the developing gestational sac is composed of a thick, outer chorionic membrane surrounding the amniotic cavity, a thin amniotic membrane and the chorionic cavity. The chorionic villi have now degenerated over most of the outer membrane, forming the chorion laeve, and the remaining villi fuses and embeds loosely into the decidua basalis. This forms the chorion frondosum, which will ultimately become the placenta. At this stage, the villi float freely in the blood of the intervillus space. Each villi is branched, and is composed of an outer syncytiotrophoblast and an inner cytotrophoblast layer. Within the centre of each villus is a mesenchymal core which contain capillaries carrying fetal blood. In CVS, usually samples of both cells lines (cytotrophoblasts and mesenchymal cells) are obtained. Chromosomal analysis of these cell lines can be performed by means of direct preparations, short-term cultures (cytotrophoblasts), or long-term cultures (mesenchymal cells) of the chorionic villi.&lt;ref&gt;Jenkins, T.M, Wapner, R.J, 1999. First trimester prenatal diagnosis: Chorionic villus sampling. Seminars in Perinatology. pp403-413.&lt;/ref&gt; <br /> <br /> CVS can be performed in two ways, through the cervix (transcervical) or through the abdomen (transabdominal). Both techniques are equally safe when performed by an experienced technician, however miscarriage rates are somewhat higher when done through the cervix. Prior to the procedure, an abdominal ultrasound can be performed to locate the position of the uterus, and the placenta. A full bladder is not required. Depending on the type of method performed, the vulva, vagina, cervix or abdomen are cleaned with antiseptic. The procedure normally takes only 1-2 minutes to perform and the patient is able to leave the clinic within the hour after the fetus is checked.&lt;ref&gt;Melbourne Ultrasound for Women. Chorionic Villus Sampling. Accessed 5 September 2010. http://www.nevdgp.org.au/info/melb_us/cvs_melb.htm&lt;/ref&gt; <br /> <br /> ===Transabdominal Procedure===<br /> <br /> # A local anaesthetic is first applied to the abdomen.&lt;br&gt;<br /> # A thin hollow needle is then inserted through the abdomen into the uterus and into the edge of the placenta where the chorion is located. An ultrasound transducer is commonly used to guide the needle during the procedure. &lt;br&gt;<br /> # A finer syringe needle is then passed through the outer needle, and the tissue is then drawn.&lt;br&gt;<br /> # The sample is taken to the laboratory for testing. <br /> <br /> ===Transcervical Procedure===<br /> # A speculum is inserted in the vagina and the area is cleaned with antiseptic.&lt;br&gt;<br /> # With the help of ultrasound imaging, a thin cannula is then inserted through the cervix and uterus and into the placenta.&lt;br&gt;<br /> #The tissue sample is then taken up through the cannula.&lt;br&gt;<br /> &lt;ref&gt;&lt;pubmed&gt;20154617&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> After the sample is taken to the laboratory, the cells are grown until there are enough cells for chromosome testing. The results normally take up to 2 weeks to complete.<br /> <br /> ===Complications===<br /> <br /> Some of the side effects and complications after a CVS procedure can include:<br /> <br /> * Dizziness <br /> * Abdominal discomfort<br /> * Cramping<br /> * Haemorrhage<br /> * Infection<br /> * Ruptured amniotic sac<br /> * Increased risk of limb defects if the test was performed at nine weeks’ gestation or earlier<br /> * Premature delivery<br /> &lt;ref&gt;Alfirevic, Z., K. Sundberg, et al. 2008. &quot;Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review).&quot; Cochrane Database of Systematic Reviews 4: 1-134.&lt;/ref&gt;<br /> <br /> Additional complications can involve technical errors such as failure of the specimen to grow sufficiently in the laboratory and uncertain laboratory results. If this occurs, amniocentesis is still an option after 15 weeks.<br /> <br /> ===Results and Accuracy===<br /> <br /> The accuracy of CVS to detect chromosome abnormalities is quite high, at around 98-99% &lt;ref&gt;Hall, Judith G. &quot;Chromosomal Clinical Abnormalities.&quot; In Nelson Textbook of Pediatrics. Edited by Richard E. Behrman et al. Philadelphia: Saunders, 2004.&lt;/ref&gt;. Although it has a high accuracy rate to diagnose most major chromosomal problems, CVS does have some limitations. Having a negative result for an abnormality does not rule out ALL genetic defects the baby may have. Comparatively to amniocentesis, CVS does NOT detect neural tube defects such as spina bifida, or anencephaly. <br /> The type of chromosome abnormalities detected by CVS will be further discussed in detail below.<br /> <br /> ===Limitations===<br /> [[file:Double_tetrasomy_18_mosaicism.jpg‎|thumb|250 px|Example of a child with double tetrasomy 18+ mosaicism.]]<br /> <br /> '''Maternal contamination'''<br /> <br /> Since the villus sample also involves maternal cells, there is a possibility that they may take over the laboratory culture instead, consequently leading to the mother's cells being tested instead of the fetus's cells. The risk of this happening is low however and is decreased when the sample contains an adequate amount of fetal cells.<br /> <br /> <br /> '''Mosaicism'''<br /> <br /> &quot;Mosaicism&quot; occurs when both abnormal and normal cells are found in the chorionic villi. Mosaicism can involve both the fetus (true fetal mosaicism) and the placental tissues or the placental tissues alone. When this happens, cells that multiply from these abnormal cells may develop a chromosome anomaly.<br /> What can result is that in certain body organs the fetus has a combination of cells that are abnormal and normal in genetic structure. <br /> The rate of the placental type occuring is found in 1-2% of pregnancies detected by CVS.&lt;ref&gt;&lt;pubmed&gt;9316125&lt;/pubmed&gt;&lt;/ref&gt; When mosaicism is detected by CVS, the limitation lies in the inability to conclude that the baby itself and not just the placental tissues will share the mosaicism. Even if the baby is affected, it will be unclear as to what percentage of the fetal cells and the type of organs that will be affected.&lt;ref&gt;Trofatter. K.F. 2008. Chromosomal Mosaicism Detected at the Time of Chorionic Villus Sampling. Accessed on 15 September 2010. http://www.healthline.com/blogs/pregnancy_childbirth/2008/03/chromosomal-mosaicism-detected-at-time.html&lt;/ref&gt;<br /> <br /> =Risks=<br /> <br /> <br /> When Chorionic Villus Sampling is performed, a small sample of the placenta is removed for analysis. The placenta contains fetal material, therefore can reveal genetic defects which may lead to problems or abnormalities. &lt;ref&gt;&lt;pubmed&gt;20664398&lt;/pubmed&gt;&lt;/ref&gt; This prenatal test can be performed as early as 11 weeks into the pregnancy, this is earlier than many prenatal diagnosis tests, which is why many parents choose CVS as they can have solid information earlier in the pregnancy. Some common risks which are not under current research include: Cramping, light blood spotting, pain, fever and chills, leakage (which can be a major concern as it can lower amniotic fluid to a dangerous level for the infant), and potential for missing fingers and toes in the newborn. For this reason, the procedure is only recommended for women who are at least 11 weeks pregnant. &lt;ref&gt;&lt;pubmed&gt;20051662&lt;/pubmed&gt;&lt;/ref&gt; The other major risks that are currently being researched are outlined below<br /> <br /> ====Transabdominal vs Transcervical CVS. Comparison of risks====<br /> <br /> <br /> [[File:CVS_Table.jpg|left|thumb|280px|Transabdominal vs Transcervical risks]]<br /> <br /> This table shows the symptoms of women approximately 3 days after sampling. The table shows women who had undergone transcervical sampling had higher frequencies of fluid leakage, vaginal spotting, and bleeding. When a tenaculum is not used, the frequency of vaginal spotting and bleeding persisted in the transcervical-sampling group. Only two women, both in the transcervical-sampling group, had a temperature above 38°C. &lt;ref&gt;Jackson, L.G., Zachary, J.M., Fowler, S.E., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Mahoney, M.J., Pergament, E., Simpson, J.L., Black, S. &amp; Wapner, R.J. 1992, &quot;A Randomized Comparison of Transcervical and Transabdominal Chorionic-Villus Sampling&quot;, New England Journal of Medicine, vol. 327, no. 9, pp. 594-598.&lt;/ref&gt;<br /> <br /> <br /> ====Miscarriage====<br /> <br /> One of the biggest risks of Chorionic Villus Sampling is miscarriage. In one to 100 or 200 cases, the procedure is linked with miscarriage. &lt;ref&gt;&lt;pubmed&gt;19155918&lt;/pubmed&gt;&lt;/ref&gt; In an experienced clinic, this rate may go down to one in 300 to 400. To lower the risk of miscarriage with Chorionic Villus Sampling, it is recommended the procedure be performed by an experienced clinician<br /> <br /> <br /> ====Oligohydramnios====<br /> <br /> Oligohydramnios is a condition due to low amniotic fluid level, which is caused by amniotic fluid leakage. Amniotic fluid leakage is typically caused by fetal urinary tract abnormalities such as Potter's syndrome, polycystic kidneys, or genitourinary obstruction. But leakage can sometimes be caused by sampling of the chorionic villi due to insertion of the needle. If the resulting oligohydramnios is not treated and the amniotic fluid continues to leak it can result in the baby developing hypoplastic lungs (underdeveloped lungs). &lt;ref&gt;&lt;pubmed&gt;17694578&lt;/pubmed&gt;&lt;/ref&gt;&lt;br&gt;&lt;br&gt;<br /> <br /> <br /> '''Why would you use CVS over other techniques?'''<br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ Advantages and Disadvantages of Chorionic Villus Sampling<br /> ! Advantages !! Disadvantages <br /> |-<br /> |Can be performed earlier in pregnancy than amniocentesis (at around ten weeks).<br /> <br /> Results are available faster<br /> <br /> Cells obtained are mitotically active<br /> <br /> Amount of tissue obtained is preferable for DNA analysis.<br /> <br /> It is almost 100% reliable in detecting chromosomal and genetic defects.<br /> |It carries a slightly higher risk of miscarriage (1%-2%) than does amniocentesis<br /> <br /> It's less commonly available than amniocentesis, and fewer doctors are experienced in the procedure.<br /> <br /> It entails a greater risk of distorted results than does amniocentesis due to presence of mother's cells in the sample and discrepancies between chorionic villi and fetal genes.<br /> <br /> Metabolic disorders are difficult to diagnose and must be confirmed with amniocentesis.<br /> <br /> Because of the early gestational age at which the test is performed, fetal anatomy cannot be seen as well as it can at the time amniocentesis is performed.<br /> |-<br /> |}<br /> &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt;<br /> <br /> =Abnormalities found by CVS prenatal diagnostic technique=<br /> <br /> [[File:Down-normal.gif|right|thumb|280px|Normal]]<br /> <br /> [[File:Down-extra.gif|right|thumb|280px|third copy of chromosome 21]]<br /> <br /> The cells collected by CVS are sent to a cytogenetics laboratory. There the cells are cultured (stimulated to grow and divide) for 10-14 days. After enough cells are obtained, a banded karyotype is performed. This means that the fetal chromosomes in the cultured cells are stained and subsequently photographed. The photographed chromosomes are then ordered by number, counted and checked for structural abnormalities. There should be 46 chromosomes, 23 pairs. A boy's karyotype is described as 46,XY and a girl's karyotype is described as 46,XX.&lt;ref&gt;Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., de, l.C., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Lubs, H.A., Mahoney, M.J., Pergament, E., Simpson, J.L., Carpenter, R.J., Elias, S., Ginsberg, N.A., Goldberg, J.D., Hobbins, J.C., Lynch, L., Shiono, P.H., Wapner, R.J. &amp; Zachary, J.M. 1989, &quot;The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities&quot;, New England Journal of Medicine, vol. 320, no. 10, pp. 609-617. &lt;/ref&gt;<br /> <br /> <br /> <br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ This table shows what disorders CVS detects, the cause, frequency and any comments<br /> ! Disorder !! Cause !! Comments !! Frequency !! Picture <br /> |-<br /> |[[ Trisomy 21 | Down Syndrome ]]<br /> |A third copy of chromosome 21<br /> <br /> Normally, there are only two copies of this chromosome<br /> |The average IQ of children with Down syndrome is around 50, compared to normal children with an IQ of 100. Complications for people with down syndrome include: congenital heart defects, gastroesophageal reflux disease, recurrent ear infections, obstructive sleep apnea, and thyroid dysfunctions. &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt; The picture shows a newborn infant with Down Syndrome (Trisome 21)<br /> |Approximately 1 in 1,000 births &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt;<br /> |[[File:Trisomy_21_newborn.jpg|right|200 px]]<br /> |-<br /> |[[ Trisomy 13 | Trisomy 13 ]]<br /> |A third copy of chromosome 13<br /> <br /> Normally, there are only two copies of this chromosome<br /> |Also called Patau syndrome. This abnormality causes mental and motor abnormalities, polydactyly (extra digits), kidney defects, abnormal genitalia and heart defects, among many others. &lt;ref&gt;Driscoll, D.A. &amp; Gross, S. 2009, &quot;Prenatal Screening for Aneuploidy&quot;, New England Journal of Medicine, vol. 360, no. 24, pp. 2556-2562. &lt;/ref&gt; The picture shows an infant with polydactyly, a potential complication of Trisome 13<br /> |Less than 1% <br /> |[[File:220px-Patauhand.PNG|right|200 px]]<br /> |-<br /> |[[ Trisomy 18 | Trisomy 18 ]]<br /> |A third copy of chromosome 18<br /> <br /> Normally, there are only two copies of this chromosome<br /> |Also known as Edwards syndrome. It has a very low survival rate, due to: kidney and heart defects, intestines protruding outside the body, mental abnormalities, growth disorders, feeding and breathing difficulties. &lt;ref&gt;Driscoll, D.A. &amp; Gross, S. 2009, &quot;Prenatal Screening for Aneuploidy&quot;, New England Journal of Medicine, vol. 360, no. 24, pp. 2556-2562. &lt;/ref&gt; The picture shows a clenched hand and overlapping fingers: index finger overlaps third finger and fifth finger overlaps fourth finger, characteristically seen in Trisomy 18.<br /> |1 in 3,000 conceptions and approximately 1 in 6,000 live births <br /> |[[File:200px-Overlapping_fingers.JPG|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Cystic_fibrosis Cystic Fibrosis]<br /> |A mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR) in chromosome 7.<br /> |An autosomal recessive disease that causes excessive sticky mucous to form on mucosal surfaces effecting the digestive and respiratory organs. &lt;ref&gt;Levison, J.H., Barbieri, R.L., Katz, J.T. &amp; Loscalzo, J. 2010, &quot;Hard to Conceive&quot;, New England Journal of Medicine, vol. 363, no. 10, pp. 965-970. &lt;/ref&gt; The picture shows clubbing of the fingers in a person with cystic fibrosis<br /> |Approx 1 in 3,000 <br /> |[[File:220px-ClubbingCF.JPG|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Hemoglobinopathy Hemoglobinopathy]<br /> |Structural abnormalities in the globin proteins <br /> |Multiple types of abnormal haemoglobins exist including Haemoglobin S, C E and D that alter the structure of these proteins. A common defect is sickle cell disease.&lt;ref&gt;Abboud, M.R. 2009, &quot;Hematopoietic Stem-Cell Transplantation for Adults with Sickle Cell Disease&quot;, New England Journal of Medicine, vol. 361, no. 24, pp. 2380-2381. &lt;/ref&gt;<br /> |Hemoglobinopathies are a genetic defect and therefore an inherited disorder, frequency depends on which particular hemoglobinopathy is being discussed, eg. in the case of Sickle cell disease, it is estimated that 7% of worlds population are carriers<br /> |[[File:Series_10-09.jpg|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease Tay Sachs Disease]<br /> |mutations on chromosome 15 in the HEXA gene <br /> |It is a rare autosomal recessive defect inherited from parents that are carriers for the disease. Affected individuals suffer from premature nerve cells death in the brain. &lt;ref&gt;&lt;pubmed&gt;20100466&lt;/pubmed&gt;&lt;/ref&gt;<br /> |Approx 1 in 300 are carriers<br /> |[[File:220px-Autorecessive.svg.png|right|200 px]]<br /> |-<br /> |}<br /> <br /> =Outcomes=<br /> <br /> Since CVS is able to detect a variety of chromosome abnormalities, there is a chance that the baby may be affected with a defect. If the test results are normal however, this does not exclude other congenital defects and neural tube defects that can occur that can be detected by other prenatal diagnosis methods. IF the test result is positive and a defect is detected by CVS, the mother has several options available. One is to terminate the pregnancy and the other is to seek treatment after the baby is born. If the mother chooses to terminate the pregnancy, doctors have a responsibility to educate the mother and offer counseling.<br /> <br /> Doctors should:<br /> <br /> *Give parents information about the defect so that they can be prepared.<br /> *Talk to parents about the baby's predicted quality of life.<br /> *Should explain any procedures that will be done to the baby after he is born.<br /> *Doctors should do their best to tell parents what the problem is and how serious it is.<br /> <br /> Abortion is the termination of pregnancy, with the removal of the fetus and placenta from the uterus. In Australia, abortion laws vary by state and usually allow this up to a range of about 12 - 20 weeks into the pregnancy, on the grounds of fetal abnormalities, endangerment of the mother and other socio-economic factors.&lt;ref&gt;Cica. N., 1998. Abortion Law in Australia. Parliament of Australia, Parliamentary Library. Accessed September 29. 2010. &lt;http://www.aph.gov.au/library/pubs/rp/1998-99/99rp01.htm&gt;&lt;/ref&gt; If the mother chooses to terminate the pregnancy, counselling is usually done to make sure the parents understand the issues and ethics surrounding abortion.<br /> There are currently two ways to perform an abortion:<br /> <br /> '''Surgical abortion -''' Also called suction aspiration, or suction currette, this is the most common procedure used for first trimester abortion(up to 12 weeks) The cervix is dilated, and a tube is inserted through the cervix and a suction removes the fetus and the placenta. A curette is then used to scrape the wall of the uterus to ensure any remains are not left inside. If later in pregnancy, other surgical techniques are used. <br /> <br /> '''Medical abortion -''' ''(Note: Not applicable in this case due to CVS being performed at 10-12 weeks.)''This involves administration of a drug called mifepristone (RU486). Available for abortions earlier than 2-9 weeks, it is a low-risk and effective method instead of the surgical method earlier in pregnancy. Usage of the drug is available in many countries but is currently restricted in Australia.<br /> <br /> ===Treatment===<br /> <br /> If the mother decides to continue on with the pregnancy, treatment options are necessary for the baby after birth to maintain the health and symptoms associated with a defect. Some of these management options for some of the defects will be discussed below. <br /> <br /> '''Down Syndrome'''<br /> <br /> Treatment and therapies for Down syndrome available include the physical, medical and cognitive problems associated with Down Syndrome. Medical treatment such as surgery or medications, while early intervention programs and therapies help babies and children achieve better quality of life. For example, children with Down Syndrome have a higher risk for having many conditions such as congenital heart defects, problems with the thyroid, muscles, joint, vision and hearing problems. Medications can be used to treat these different problems, such as if the thyroid is affected, a child will benefit from taking thyroid replacement hormones. Medications aim to control the symptoms and reduce the impact the condition will have on the baby. There is no medication that can cure chromosome abnormalities. Some individuals affected with cardiac and gastrointestinal problems may also need surgery soon after birth. Regular screening for vision problems, hearing, hypothyroidism, and other medical conditions should be performed.<br /> <br /> Cognitive development can be assisted with physiotherapy and speech therapy for example. Since children with Down Syndrome can have speech problems due to their relatively small mouths and large tongue, speech therapy can help the child to communicate properly. Physical therapy is often needed since individuals with Down Syndrome have hypotonia (low muscle tone)which needs to be improved by developing motor skills.<br /> <br /> '''Trisomy 13'''<br /> <br /> Since Trisomy 13 causes a range of serious complications like congenital heart disease and brain and spinal cord abnormalities, the survival rate is low, with a median survival time of 2.5 days. &lt;ref&gt;&lt;pubmed&gt;11310997&lt;/pubmed&gt;&lt;/ref&gt; Treatment is usually directed towards the specific symptoms that are present in the affected child, which differs to each individual. In some cases, treatment may include surgical procedures to correct cleft lip and palate, or surgery to correct heart defects. This will depend upon the severity and nature of the abnormalities and symptoms.&lt;Ref&gt;Stewart, K. B., 2007. Trisomy 13 - Patau Syndrome. [Fact sheet] Centre for Genetics Education. Accessed 29 September, 2010. &lt;http://www.genetics.com.au/pdf/factsheets/fs29.pdf&gt;&lt;/ref&gt;<br /> <br /> '''Cystic fibrosis'''<br /> <br /> There is currently no cure for cystic fibrosis, but various treatment methods can manage the symptoms of lung and digestive problems, liver and gallbladder diseases and infertility. Digestive problems can be corrected by having a diet that is low in fat and high in protein, with vitamin supplements. Regular antibiotics are prescribed to prevent and to treat lung infections, and mucolytics are needed to make the mucous less sticky. Other methods to dislodge and remove mucous is manual chest physiotherapy, where it consists of bronchial drainage done manually or mechanically. Manual drainage can be done by performing controlled breathing techniques or the chest is vibrated or clapped to dislodge the mucous out of the airways. &lt;ref&gt;&lt;pubmed&gt;18079549&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> '''Tay-sachs disease'''<br /> <br /> The prognosis for babies with the condition is usually poor, with children living to the age of 4-5.&lt;ref&gt;National Institute of Neurological Disorders and Stroke. 2007. Tay-Sachs Disease Information Page. Accessed September 29, 2010. &lt;http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm&gt;&lt;/ref&gt; Therefore treatment for Tay-sachs disease is usually to help alleviate symptoms associated with the disease. Spasticity and siezures can be helped by administering anticonvulsants, while other supportive methods include respiratory care to keep the airway open and proper nutrition and hydration.<br /> <br /> =Ethical concerns=<br /> <br /> =Current associated research=<br /> <br /> Chorionic Villus Sampling (CVS) is one of many prenatal diagnostic tools for expectant mothers, it is popular since it can be used to identify potential problems with a fetus at a very early stage. However, the procedure does carry some risks, as does any invasive diagnostic procedure. As chorionic villus sampling is a relatively new technique, made available for safe routine use only 20 years ago, the current associated research is mainly associated with risks associated with the procedure, and ways to overcome these risks. The next section in this page will discuss the current research on CVS and the risks involved in the procedure, and not what the test results may find. <br /> <br /> ====Hypertensive disorders of pregnancy====<br /> <br /> Hypertension, or high blood pressure, is a condition where systemic arterial blood presssure is elevated. Hypertension is one of the most common medical problem during pregnancy, affecting about 2-3% of pregnancies.&lt;ref&gt;Gibson, P., Carson, M.P, 2010. Hypertension and Pregnancy. Accessed 29 September, 2010. &lt;http://emedicine.medscape.com/article/261435-overview&gt;&lt;/ref&gt;<br /> Pregnancy induced hypertension is a condition that can occur during and after the 20th week of pregnancy. The types of hypertensive disorders can include:<br /> <br /> [[File:Enamel_Hypoplasia_Due_to_Maternal_Toxemia.jpg|thumb|200px|right|Enamel hypoplasia due to maternal toxemia]]<br /> <br /> *Pre-eclampsia or toxemia – Characterised as high blood pressure above 140/90 with proteinuria (protein in the urine that is above 300mg)<br /> * Eclampsia - Developed in a pregnant woman who has had pre-eclampsia and is characterised by seizures <br /> * Gestational hypertension – arterial hypertension that occurs after the 20th week of gestation <br /> <br /> If untreated, the condition may develop into HELLP syndrome which is a serious complication noted by hemolytic aneamia, elevated liver enzymes and a low platelet count. <br /> <br /> <br /> There has been conflicting evidence in literature that suggests that CVS is associated with hypertensive disorders in pregnancy such as pre-clampsia and gestational hypertension. In several studies, such as data from the National Institute of Health that compared late CVS procedures with early amniocentesis, showed a higher rite of gestational hypertension and preeclampsia in pregnant mothers.&lt;ref&gt;&lt;pubmed&gt;15738029&lt;/pubmed&gt;&lt;/ref&gt; (5.4% for mothers who had CVS and 3.5% that had amniocentesis.) It was hypothesized that disruption and disturbance of the placenta at 13-14 weeks may increase the risk of maternal hypertension. In addition, another recent study in 2006 also reported that there was an increase in the rate of pre-clampsia in first-time expectant mothers who have had CVS.&lt;ref&gt;&lt;pubmed&gt;19455602&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> However, in a very recent data investigation of among 9098 women that were pregnant between 1990 and 2006, the overall incidence of hypertensive disorders with women who have had CVS was 2.7% compared to the control group that did not have the procedure done which was 7.1%.&lt;ref&gt;&lt;pubmed&gt;19918960&lt;/pubmed&gt;&lt;/ref&gt; Similarly, in a study conducted by The American College of Obstetricians and Gynecologists,&lt;ref&gt;&lt;pubmed&gt;20664398&lt;/pubmed&gt;&lt;/ref&gt; 31, 138 women were that were included in the investigation showed that 2.2% developed preeclampsia and 2.8% developed gestation hypertension. Only 7.8% of those individuals had previously had CVS procedure performed. <br /> <br /> Although it can be said that some woman may develop hypertensive disorders during pregnancy that have also had the CVS procedure done in the past, there is no conclusive evidence so far that definitively associates CVS with hypertensive disorders such as pre-clampsia and gestation hypertension.<br /> <br /> ====Malformations====<br /> [[File:Craniosynostosis_.jpg|right|250 px]]<br /> <br /> <br /> Many malformations were thought to be a result of more invasive prenatal diagnostic techniques such as chorionic villus sampling. These malformations include, but are not limited to, cardiac malformations, hypospadias, craniosynostosis, pyloric stenosis, inguinal hernia, polydactyly, syndactyly, hydrocephalus and cleft lip and palate. Although these studies have now confirmed no known relationship with CVS, we will mention some below. &lt;ref&gt;&lt;pubmed&gt;7937577&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> '''Craniosynostosis''' is a condition where one of the sutures of the skull prematurely fuses, this causes the other sutures to compensate in growth for the fused suture. In normal development of the skull, the sutures allow for brain growth, so if one suture fuses prematurely, the brain can not grow normally, and the other sutures over expand in compensation. In the shown image, pictures a1 and a2 show the normal development and fusing of the infant skull. b2 shows how a suture is prematurely fused and b1 shows how the abnormality shows in an infant child.<br /> Craniosyntosis may result in increased pressure on the brain and developmental delays. Treatment of craniosynostosis usually consists of surgery to the skull where a zigzag incision is made to make the hair look more natural than the scar left by a straight incision. The surgery separates the sutures that have joined together to allow the head to develop normally.<br /> <br /> &lt;ref&gt;Silver, R.K., Macgregor, S.N., Muhlbach, L.H., Knutel, T.A. &amp; Kambich, M.P. 1994, &quot;Congenital malformations subsequent to chorionic villus sampling: Outcome analysis of 1048 consecutive procedures&quot;, Prenatal diagnosis, vol. 14, no. 6, pp. 421-427. &lt;/ref&gt;<br /> <br /> [[File:Polydactyly.jpg|left|200 px]]<br /> '''Polydactyly''' is a congenital condition where an extra digit is formed. Mostly it occurs on only one hand or foot, but sometimes can occur on all limbs. The extra digit is mostly a small non-function appendage of skin, less often it is an extension of the adjacent digit, and rarely it is a fully functioning finger that arises from the wrist or ankle joint like the other digits. Polydactyly can be described as: <br /> <br /> ● postaxial polydactyly (arising from the little finger)<br /> <br /> ● preaxial polydactyly (arising from the thumb) or<br /> <br /> ● central polydactyly (arising from anywhere between the other digits)<br /> <br /> Polydactyly is seen in 1 in every 500 births, but the extra digit is usually surgically removed shortly after birth<br /> &lt;ref&gt;&lt;pubmed&gt;20661588&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> [[File:Syndactyly2.JPG|left|200 px]]<br /> '''Syndactyly''' is also a congenital condition, but is seen when digits are fused together. Syndactyly can be described as:<br /> <br /> ● simple syndactyly (where only skin is fused to the adjacent finger)<br /> <br /> ● complex syndactyly (where the bone is fused together)<br /> <br /> ● incomplete syndactyly (where fusion is only part of the way up the digit), and,<br /> <br /> ● complete syndactyly (where fusion is to the tip of the digit)<br /> <br /> The picture on the left shows an example of polysyndactyly, where the digits are both fused, and there is an extra digit.<br /> &lt;ref&gt;&lt;pubmed&gt;20811188&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> <br /> <br /> <br /> <br /> ====Hemangiomas====<br /> <br /> [[File:Capillary_haemangioma.jpg|thumb|200px|right|Hemangioma]]<br /> <br /> A hemangioma is a benign tumour growth of endothelial cells that can occur in newborns and infants. Hemangiomas can occur anywhere in the body but are often localised on the skin of the face and neck, and are characterised by a red to reddish purple raised lesion on the skin, similarly to a &quot;strawberry&quot; like appearance. Its red appearance is due to the newly formed blood vessels, which result from the malformation of angioblastic tissues of fetal life.&lt;ref&gt;&lt;pubmed&gt;7063565&lt;/pubmed&gt;&lt;/ref&gt; <br /> Most hemangiomas do not cause any serious complications, and regress later on in life, where 90% of hemangiomas in children would disappear by the age of 9. <br /> <br /> Recently, research has linked the increase in the incidence of hemangiomas in infants following CVS. It has been postulated that the mechanism of hemangioma formation is associated with the embolisation of angioblasts or endothelial cells from the placenta to the fetal skin.&lt;ref&gt;&lt;pubmed&gt;19218861&lt;/pubmed&gt;&lt;/ref&gt; Although this may link hemangiomas to placental origin, it is unclear how, or whether CVS directly interferes or enhances the formation of these lesions. However, a recent study that compared the effects of CVS and amniocentesis on the prevalence of hemangiomas in infants showed that 27% of the study group had hemangiomas with CVS compared to 9.4% in children with hemangiomas and amniocentesis. &lt;ref&gt;&lt;pubmed&gt;20824891&lt;/pubmed&gt;&lt;/ref&gt; Furthermore, in an previous study conducted in 1995, there was a threefold increase in incidence after trancervical procedure was done, compared to amniocentesis.&lt;ref&gt;Lo, K., Mihm, M. &amp; Fay, A. 2009, &quot;Current Theories on the Pathogenesis of Infantile Hemangioma&quot;, Seminars in ophthalmology, vol. 24, no. 3, pp. 172-177. &lt;/ref&gt;&lt;ref&gt;&lt;pubmed&gt;7784377&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> =Future of Chorionic Villus Sampling and Prenatal diagnosis techniques=<br /> <br /> Prenatal diagnosis has been used to detect chromosomal abnormalities, especially Down’s syndrome, for over 30 years. As we have discussed on this page, the most common forms of prenatal diagnosis are amniocentesis, CVS and ultrasound. The type of test used depends on the history of the parents, any abnormalities detected in the initial ultrasound examination, and preferences of the parents. Testing for chromosomal abnormalities using amniocentesis and CVS is invasive and somewhat time consuming. Research in the field of prenatal diagnosis is looking toward making detection of abnormalities non invasive, using the fetal cells from maternal circulation. &lt;ref&gt;&lt;pubmed&gt;20014413&lt;/pubmed&gt;&lt;/ref&gt; Some recent advancements in this field include the use of fluorescence in situ hybridisation (FISH), quantitative fluorescence-PCR techniques , and comparative genomics. The waiting time for these tests is usually only 1 to 2 days for chromosomal abnormalities. &lt;ref&gt;&lt;pubmed&gt;20014413&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> fluorescence in situ hybridisation (FISH):<br /> <br /> quantitative fluorescence-PCR techniques:<br /> <br /> comparative genomics:<br /> <br /> =Useful links=<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Wikipedia'''[http://en.wikipedia.org/wiki/Chorionic_villus_sampling Chorionic villus sampling]<br /> <br /> '''Fact sheets''' [http://www.thewomens.org.au/ChorionicVillusSamplingCVS Chorionic villus sampling]<br /> <br /> '''Images''' [http://www.google.com.au/images?q=chorionic+villus+sampling&amp;oe=utf-8&amp;rls=org.mozilla:en-US:official&amp;client=firefox-a&amp;um=1&amp;ie=UTF-8&amp;source=univ&amp;ei=yCWcTKT-NsircY-nzNEJ&amp;sa=X&amp;oi=image_result_group&amp;ct=title&amp;resnum=4&amp;ved=0CD4QsAQwAw&amp;biw=1280&amp;bih=615 Chorionic villus sampling]<br /> <br /> '''You tube video of procedure''' [http://www.youtube.com/watch?v=0XUZsvTkEnw Chorionic villus sampling]<br /> <br /> =Glossary=<br /> <br /> '''Amniocentesis''' - A prenatal diagnostic test involving sampling of amniotic fluid by needle aspiration for genetic analysis.<br /> <br /> '''Amnion''' - An extraembryonic membrane ectoderm and extraembryonic mesoderm in origin and forms the innermost fetal membrane, produces amniotic fluid. This fluid-filled sac initially lies above the trilaminar embryo disc and with embryoic disc folding this sac is drawn ventrally to enclose (cover) the entire embryo, then fetus.<br /> <br /> '''Amniotic cavity''' - The fluid-filled (amniotic fluid) extraembryonic coelom (cavity) formed initially by epiblast and then ectoderm and surrounding extraembryonic mesoderm. In humans, it forms the innermost fetal membrane, produces amniotic fluid expanding to fuse with the chorionic membrane during week 8 of development.<br /> <br /> '''Amniotic fluid''' - The fluid that fills amniotic cavity totally encloses and cushions the embryo.<br /> <br /> '''Cannula''' - A flexible medical tube with a sharp-pointed part at one end that is inserted into a duct, vein, or cavity in order to drain away fluid or to administer drugs<br /> <br /> '''Chorion''' - The extraembryonic membrane generated from trophoblast and extraembryonic mesoderm that forms placenta. chorion and amnion are made by the somatopleure. The chorion becomes incorporated into placental development. The avian and reptilian chorion lies beside the egg shell and allows gas exchange.<br /> <br /> '''Chorionic villus sampling (CVS)''' - The taking a biopsy of the placenta, usually at the end of the second month of pregnancy, to test the fetus for genetic abnormalities.<br /> <br /> '''Chromosome''' - double stranded DNA coiled around histones. Condenses during mitosis and meiosis.<br /> <br /> '''Ectoderm''' - One of the initial 3 germ cell layers, which will form the nervous system from the neural tube and neural crest and also generates the entire epithelial layer of the skin covering the embryo.<br /> <br /> '''Endoscope''' - a long slender medical instrument for examining the interior of a bodily organ or performing minor surgery<br /> <br /> '''Endoderm''' - One of the initial 3 germ cell layers (ectoderm, mesoderm and endoderm) formed by the process of gastrulation. The endoderm forms as a cuboidal epithelium and contributes not only to the trilaminar embryo, but also lines the yolk sac. It will form the entire epithelial lining of the gastrointestinal tract (GIT), contribute to the accessory organs of GIT and also forms the epithelial lining of the respiratory tract.<br /> <br /> '''Fetus''' - In mammals, term describes the period of development following the embryonic period. In humans, the development week 9 to 36 is the fetal stage (second and third trimester). (see fetal period above). This term is also used non-scientifically to describe the human conceptus at both embryonic and fetal stages of development.<br /> <br /> '''Gene''' - A DNA sequence that is transcribed as a single unit and encodes a single polypeptide (protein) or a set of closely related polypeptides. There are approximately 20,000-25,000 protein encoding genes in the human genome. In each cell, DNA is found within the nucleus and also within mitochondria.<br /> <br /> '''Gestation''' - The period of time from conception to birth. A pregnancy with multiple fetuses is referred to as a multiple gestation.<br /> <br /> '''Mesoderm''' - The middle layer of the 3 germ cell layers of the trilaminar embryo.<br /> <br /> '''Miscarriage''' - A general clinical term for the loss of embryo or fetus by spontaneous abortion.<br /> <br /> '''Mitosis''' - The normal division of all cells, except germ cells, where chromosome number is maintained (diploid). <br /> <br /> '''Prenatal diagnosis''' - any of the diagnostic procedures used to determine whether a fetus has a genetic abnormality<br /> <br /> '''Tenaculum''' - instrument used to grasp the cervix and keep the uterus in place during gynecological procedures.<br /> <br /> '''Termination''' - The spontaneous or artificially induced expulsion of an embryo or fetus. As used in legal context, the term usually refers to induced abortion.<br /> <br /> '''Transabdominal''' - In the transabdominal CVS technique, the physician inserts a needle through the abdomen into the placenta. This is also done with ultrasound, to guide the physician<br /> <br /> '''Transcervical''' - In the transcervical CVS technique, the physician inserts a small tube through the cervix into the placenta. This is done while ultrasound guides the physician<br /> <br /> '''Ultrasound''' - A non-invasive technique for visualizing and prenatal diagnosis of several features of development including: follicles in the ovaries, the gestational sac, fetus in the uterus, fetal parameters, and the placenta. The technique uses high-frequency sound waves that are reflected off internal structures. These reflections can then be analysed and displayed by computer.<br /> <br /> '''Villi''' - Plural of villus, which is a thin projection from a surface. A term used to describe the many functional units together of the fetal placenta. <br /> <br /> '''Vitelline arteries and veins''' - The blood vessels which form in the extraembryonic mesoderm of the yolk sac and anastomose are called vitelline arteries (flow away from the embryo) and vitelline veins (flow toward the embryo).<br /> <br /> ==Prenatal Diagnosis Terms==<br /> <br /> '''false negative rate''' - The proportion of pregnancies that will test negative given that the congenital anomaly is present.<br /> <br /> '''false positive rate''' - The proportion of pregnancies that will test positive given that the congenital anomaly is absent.<br /> <br /> '''negative predictive value''' - The probability that a congenital anomaly is absent given that the prenatal screening test is negative.<br /> <br /> '''positive predictive value''' - The probability that a congenital anomaly is present given that the prenatal screening test is positive.<br /> <br /> '''pre-implantation genetic diagnosis''' - (PGD) a screening procedure for embryos produced through in vitro fertilisation (IVF) for genetic diseases that would generate developmental abnormalities or serious postnatal diseases.<br /> <br /> '''prenatal screening sensitivity''' - (detection rate) The probability of testing positive on a prenatal screening test if the congenital anomaly is present.<br /> <br /> '''prenatal screening specificity''' - The probability of testing negative on a prenatal screening test if the congenital anomaly is absent.<br /> <br /> <br /> ==Glossary Links==<br /> <br /> :[[A|A]] | [[B|B]] | [[C|C]] | [[D|D]] | [[E|E]] | [[F|F]] | [[G|G]] | [[H|H]] | [[I|I]] | [[J|J]] | [[K|K]] | [[L|L]] | [[M|M]] | [[N|N]] | [[O|O]] | [[P|P]] | [[Q|Q]] | [[R|R]] | [[S|S]] | [[T|T]] | [[U|U]] | [[V|V]] | [[W|W]] | [[X|X]] | [[Y|Y]] | [[Z|Z]] | [[Numbers|Numbers]]<br /> <br /> =References=<br /> &lt;references/&gt;<br /> <br /> == 2010 ANAT2341 Group Projects ==<br /> <br /> [[2010_Group_Project_1|Project 1 - Ultrasound]] | [[2010_Group_Project_2|Project 2 - Chorionic villus sampling]] | [[2010_Group_Project_3|Project 3 - Amniocentesis]] | [[2010_Group_Project_4|Group Project 4 - Percutaneous Umbilical Cord Blood Sampling]] | [[2010_Group_Project_5|Project 5 - Fetal Fibronectin]] | [[2010_Group_Project_6|Project 6 - Maternal serum alpha-fetoprotein]] | [[ANAT2341_2010_Students|Students Page]]<br /> <br /> <br /> {{Template:Footer}}<br /> [[Category:2010ANAT2341]] [[Category:Science-Undergraduate]]</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=2010_Group_Project_2&diff=39522 2010-10-06T01:50:21Z

<p>Z3265772: /* Future of Chorionic Villus Sampling */</p> <hr /> <div>[[File:Embryo_11-14_weeks.jpg|right|400 px]]<br /> <br /> ='''Chorionic Villus Sampling (CVS)'''=<br /> <br /> =Introduction=<br /> <br /> [[Image:Gray31.png|thumb|350px|right|Grays]]<br /> <br /> <br /> Chorionic villus sampling or CVS is a type of prenatal diagnosis test performed in the first trimester to detect major fetal abnormalities such as down syndrome, cystic fibrosis and tay-sachs disease, among many others. In the procedure, tissue is withdrawn from small finger like projections on the placenta called chorionic villi and tested for chromosomal defects. It is commonly performed between 10 and 12 weeks of pregnancy. <br /> The advantage of CVS over other procedures is that the result is available approx 6 weeks earlier in the pregnancy, so if a termination is needed, it can be done earlier which is much safer, rather than later in the pregnancy, which can carry more risks. &lt;ref&gt;Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., de, l.C., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Lubs, H.A., Mahoney, M.J., Pergament, E., Simpson, J.L., Carpenter, R.J., Elias, S., Ginsberg, N.A., Goldberg, J.D., Hobbins, J.C., Lynch, L., Shiono, P.H., Wapner, R.J. &amp; Zachary, J.M. 1989, &quot;The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities&quot;, New England Journal of Medicine, vol. 320, no. 10, pp. 609-617.&lt;/ref&gt;<br /> <br /> ''Reasons for getting chorionic villus sampling can include:''<br /> <br /> -History of genetic disorders in the family<br /> <br /> -Parents have already had a child with a disorder such as down syndrome or cystic fibrosis<br /> <br /> -Abnormal ultrasound result<br /> <br /> -Maternal age of 35 or older, which increases the risk of chromosomal defects such as down syndrome<br /> <br /> <br /> =Historic background=<br /> <br /> <br /> '''Brief timeline of CVS use'''<br /> <br /> *1968 - Mohr in Scandinavia introduced the concept of prenatal diagnosis using chorionic villi sampling &lt;ref&gt;&lt;pubmed&gt;5691288&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1973 - Kullander and Sandahl and Hahnemann in 1974 showed further study into chromosomal analysis from CVS &lt;ref&gt;&lt;pubmed&gt;4766093&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1975 - from the Department of Obstetrics and Gynaecology at the Tietung Hospital in Anshan, China was successful in using CVS to determine sex of fetuses for sex pre selection. &lt;ref&gt;&lt;pubmed&gt;811431&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1980 - Kazy et al. were the first to use ultrasound guidance during chorionic villi sampling. &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1981 - Niazi et al. improved methods for culturing of fibroblasts from trophoblast villi. &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1983 - Ward performed transcervical CVS with 67% success rate. In the same year, the Brombati group demonstrated and 96% success rate with obtaining villi with the aid of ultrasound guidance &lt;ref&gt;&lt;pubmed&gt;6463023&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1984 - Smidt-Jensen and Hahnemann introduced transabdominal CVS under ultrasound guidance &lt;ref&gt;&lt;pubmed&gt;4088973&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1986 - The Golbus group had a 3.8% miscarriage rate, and subsequently many other clinics started reporting a much lower rate of miscarriage at 1.7% making the procedure safe for routine use &lt;ref&gt;&lt;pubmed&gt;3717235&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> ===Jan Mohr (1921-2009)===<br /> [[Image:Jan_Mohr.jpg|thumb|200px|left|Jan Mohr]]<br /> <br /> <br /> '''1968 -- Concept of CVS introduced'''<br /> <br /> In 1968 Jan Mohr introduced the concept of prenatal diagnosis using the CVS technique. &lt;ref&gt;&lt;pubmed&gt;5691288&lt;/pubmed&gt;&lt;/ref&gt; He used the transcervical method to get a biopsy of the chorion using an endoscope as the source of vision. The current technique differs by using mostly transabdominal access with ultrasound instead of an endoscope. He reported a 96% success rate in obtaining chorionic material but with a high incidence of bleeding and infection. The approach was abandoned as amniocentesis became more popular due to higher safety levels<br /> <br /> <br /> <br /> '''1973-1975 -- Further study into chromosomal analysis from CVS'''<br /> <br /> Kullander and Sandahl in 1973 and Hahnemann in 1974 further researched fetal chromosome analysis using transcervical biopsy before termination in early pregnancies. &lt;ref&gt;&lt;pubmed&gt;4766093&lt;/pubmed&gt;&lt;/ref&gt; In 1975 the first successful diagnostic use of chorionic villi was reported at the Tietung Hospital in China. &lt;ref&gt;&lt;pubmed&gt;811431&lt;/pubmed&gt;&lt;/ref&gt; This is where fetal sex was diagnosed for the purpose of sex pre-selection. They claimed to have 94% diagnosis success and only 4% miscarriage rate. Researchers in the United States were, however unable to duplicate the results and so the idea of CVS diagnosis was again abandoned for some time.<br /> <br /> <br /> '''1980-1983 -- Change from endoscopic examination to ultrasound to guide CVS'''<br /> <br /> With the invention of the ultrasound and advancement in molecular genetics, an earlier prenatal diagnosis was now sought after. So Kazy et al. in 1980, began using both the endoscope and the ultrasound for fetal sexing on chorion biopsies. This was the first report of using ultrasound guidance during chorion sampling. After Kazy et.al. began using the ultrasound for guidance, many others followed. Niazi et al., Ward and the Brombati group all started using ultrasound guided CVS. Techniques quickly improved and success rate of obtaining chorionic material rose from 75% to 96% &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> '''1984-1986 -- The introduction of transabdominal CVS'''<br /> <br /> In 1984, Smidt-Jensen and Hahnemann in Copenhagen introduced transabdominal CVS using ultrasound guidance. &lt;ref&gt;&lt;pubmed&gt;6463023&lt;/pubmed&gt;&lt;/ref&gt; With less chance of infective complications the procedure has become more popular than the transcervical method in many prenatal diagnostic centers. Other ultrasonic techniques and modifications were explored by the Brambati and Simoni group and the Golbus group in 1985. &lt;ref&gt;&lt;pubmed&gt;4088973&lt;/pubmed&gt;&lt;/ref&gt; The Golbus group reported in 1986 a miscarriage rate of 3.8%. &lt;ref&gt;&lt;pubmed&gt;3717235&lt;/pubmed&gt;&lt;/ref&gt; Subsequently, many other centres reported a much lower miscarriage rate of 1.5% which made the procedure safe for routine use.<br /> <br /> ==Table Comparing Prenatal Diagnosis Techniques==<br /> <br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ This table shows invasiveness and timeframe for some prenatal diagnostic techniques<br /> ! Invasiveness !! Diagnostic technique !! Comments !! Time that procedure can be performed !! Diagram<br /> |-<br /> |Non Invasive<br /> |[[2010_Group_Project_1|Ultrasound]]<br /> |'''Tests for:''' neural tube defects, chromosomal abnormalities and congenital heart abnormalities<br /> <br /> '''Risks:''' No risks currently indicated for ultrasound use in prenatal diagnosis. <br /> <br /> This test uses high frequency sound waves through a transmitting device, which construct a picture of the fetus when the waves are reflected and received back by the transmitter. Due to no known risks, ultrasound use is used routinely in pregnancies and is the first port of call for prenatal diagnosis. If a potential abnormality is found or the parents are high risk, then a more invasive diagnostic technique may be recommended. The type of diagnostic technique used depends on the potential abnormality found. &lt;ref&gt;Kremkali, F.W. (2006) Diagnostic Ultrasound Principles and Instruments (7th ed.) St Louis: Saunders Elsevier. pp3-5&lt;/ref&gt;[[2010_Group_Project_1|More about Ultrasound]]<br /> |Weeks 18-20<br /> |[[File:ZConvex_Array_Transducer.jpg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> |'''Tests for:''' chromosomal abnormalities and genetic abnormalities <br /> <br /> '''Risks:''' Miscarriage (1%), some of the side effects include dizziness, abdominal discomfort, cramping, haemorrhage, infection, ruptured amniotic sac, increased risk of limb defects if the test was performed at nine weeks’ gestation or earlier &lt;ref&gt;Alfirevic, Z., K. Sundberg, et al. 2008. &quot;Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review).&quot; Cochrane Database of Systematic Reviews 4: 1-134.&lt;/ref&gt;<br /> <br /> With the guidance of Ultrasound, a needle is inserted in to the abdomen or through the cervix and a small sample of chorionic villi from the placenta are obtained. This sample is sent to a cytogenetics laboratory where the cells are cultured and stained, and photographed to view chromosomes <br /> |Weeks 10-12<br /> |[[File:Transabdominal_CVS.jpg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_3|Amniocentesis ]] <br /> |'''Tests for:''' chromosomal abnormalities, fetal infections, and genetic abnormalities<br /> <br /> '''Risks:''' Miscarriage &lt;1%, stillbirths 3%, and small risk of infection. &lt;ref&gt;&lt;pubmed&gt;PMC2464303&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> A needle is inserted in to the uterus where a sample of the amniotic fluid surrounding the fetus is taken. This procedure is usually done with the guidance of ultrasound so the physician can see where the needle is being inserted. The amniotic fluid is analysed for abnormalities. [[2010_Group_Project_3|More about Amniocentesis ]]<br /> |Weeks 15-16<br /> |[[File:Process_of_amniocentesis.jpeg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_4|Percutaneous Umbilical Cord Blood Sampling]]<br /> |'''Tests for:'''chromosomal abnormalities, blood disorders, some metabolic disorders, fetal infections, and some causes of structural problems.<br /> <br /> '''Risks:'''Miscarriage &lt;2%, Preterm labour, fetal bradycardia, bleeding of the umbilical cord. &lt;ref&gt;&lt;pubmed&gt;16530195&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> A small needle is inserted in to the abdomen of the mother and a sample of blood is taken from the umbilical vein in the umbilical cord. This technique is often used when other diagnostic techniques are inconclusive, but should be used with caution as carries higher risk rates. The benefit of Percutaneous Umbilical Cord Blood Sampling is that the results are available much faster, within 72 hours of testing. CVS and amniocentesis tests need culturing and therefore take up to 11 days for a result. [[2010_Group_Project_4|More about Percutaneous Umbilical Cord Blood Sampling]]<br /> |Weeks 18-22<br /> |[[File:Placenta_Anterior.jpg|right|150 px]]<br /> |-<br /> |Less Invasive<br /> |[[2010_Group_Project_5|Fetal Fibronectin]]<br /> |'''Tests for:'''determines the likelihood of premature birth in women of high risk<br /> <br /> '''Risks:'''No known risks for the testing of Fetal Fibronectin, as is it less invasive than other techniques.<br /> <br /> Fetal Fibronectin is only found in the uterus until the onset of labour when is secretes in through the cervix. In this procedure, a sample of the cervico-vaginal secretions are taken and sent to the lab for testing. If the test comes out positive for Fetal Fibronectin in the vagina, the mother has a chance of going into premature labour. [[2010_Group_Project_5|More about Fetal Fibronectin]]<br /> |Weeks 24-34<br /> |[[File:FetalFN.jpg|right|150 px]]<br /> |-<br /> |Non Invasive<br /> |[[2010_Group_Project_6|Maternal serum alpha-fetoprotein]]<br /> |'''Tests for:'''AFP is a type of screening test and do not diagnose problems, but signal whether further testing is needed. Normal AFP levels are increased in Neural Tube Defects and Omphalocoele &amp; decreased in Down Syndrome.<br /> <br /> '''Risks:'''No known risks as Maternal serum alpha-fetoprotein is non invasive<br /> <br /> A blood sample is taken from the mother and alpha-fetoprotein levels are measured in the lab. These measurements can determine the risk level of certain abnormalities in the fetus. The advantage is that it is non invasive, but the disadvantage is that it has a very high false positive rate, so many mothers have gone on to have amniocentesis or chorionic villus sampling to find nothing is wrong with the baby. This can be overcome by having another alpha-fetoprotein test before getting amniocentesis or chorionic villus sampling. [[2010_Group_Project_6|More about Maternal serum alpha-fetoprotein]]<br /> |Weeks 15-20<br /> |[[File:Enzyme_immunoassay.jpg|right|150 px]]<br /> |-<br /> |}<br /> <br /> =Description of technique=<br /> [[File:Gray37.png|right|thumb|280px|Sample is taken from the chorionic villi]]<br /> [[File:transabdominal_CVS.jpg|right|thumb|280px|Transabdominal Technique]]<br /> [[File:transcervicalCVS.jpg|right|thumb|280px|Transcervical Technique]]<br /> <br /> The CVS procedure involves taking a sample of the chorion frondosum — the part of the chorionic membrane containing the villi. Between 10-12 weeks of pregnancy, the developing gestational sac is composed of a thick, outer chorionic membrane surrounding the amniotic cavity, a thin amniotic membrane and the chorionic cavity. The chorionic villi have now degenerated over most of the outer membrane, forming the chorion laeve, and the remaining villi fuses and embeds loosely into the decidua basalis. This forms the chorion frondosum, which will ultimately become the placenta. At this stage, the villi float freely in the blood of the intervillus space. Each villi is branched, and is composed of an outer syncytiotrophoblast and an inner cytotrophoblast layer. Within the centre of each villus is a mesenchymal core which contain capillaries carrying fetal blood. In CVS, usually samples of both cells lines (cytotrophoblasts and mesenchymal cells) are obtained. Chromosomal analysis of these cell lines can be performed by means of direct preparations, short-term cultures (cytotrophoblasts), or long-term cultures (mesenchymal cells) of the chorionic villi.&lt;ref&gt;Jenkins, T.M, Wapner, R.J, 1999. First trimester prenatal diagnosis: Chorionic villus sampling. Seminars in Perinatology. pp403-413.&lt;/ref&gt; <br /> <br /> CVS can be performed in two ways, through the cervix (transcervical) or through the abdomen (transabdominal). Both techniques are equally safe when performed by an experienced technician, however miscarriage rates are somewhat higher when done through the cervix. Prior to the procedure, an abdominal ultrasound can be performed to locate the position of the uterus, and the placenta. A full bladder is not required. Depending on the type of method performed, the vulva, vagina, cervix or abdomen are cleaned with antiseptic. The procedure normally takes only 1-2 minutes to perform and the patient is able to leave the clinic within the hour after the fetus is checked.&lt;ref&gt;Melbourne Ultrasound for Women. Chorionic Villus Sampling. Accessed 5 September 2010. http://www.nevdgp.org.au/info/melb_us/cvs_melb.htm&lt;/ref&gt; <br /> <br /> ===Transabdominal Procedure===<br /> <br /> # A local anaesthetic is first applied to the abdomen.&lt;br&gt;<br /> # A thin hollow needle is then inserted through the abdomen into the uterus and into the edge of the placenta where the chorion is located. An ultrasound transducer is commonly used to guide the needle during the procedure. &lt;br&gt;<br /> # A finer syringe needle is then passed through the outer needle, and the tissue is then drawn.&lt;br&gt;<br /> # The sample is taken to the laboratory for testing. <br /> <br /> ===Transcervical Procedure===<br /> # A speculum is inserted in the vagina and the area is cleaned with antiseptic.&lt;br&gt;<br /> # With the help of ultrasound imaging, a thin cannula is then inserted through the cervix and uterus and into the placenta.&lt;br&gt;<br /> #The tissue sample is then taken up through the cannula.&lt;br&gt;<br /> &lt;ref&gt;&lt;pubmed&gt;20154617&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> After the sample is taken to the laboratory, the cells are grown until there are enough cells for chromosome testing. The results normally take up to 2 weeks to complete.<br /> <br /> ===Complications===<br /> <br /> Some of the side effects and complications after a CVS procedure can include:<br /> <br /> * Dizziness <br /> * Abdominal discomfort<br /> * Cramping<br /> * Haemorrhage<br /> * Infection<br /> * Ruptured amniotic sac<br /> * Increased risk of limb defects if the test was performed at nine weeks’ gestation or earlier<br /> * Premature delivery<br /> &lt;ref&gt;Alfirevic, Z., K. Sundberg, et al. 2008. &quot;Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review).&quot; Cochrane Database of Systematic Reviews 4: 1-134.&lt;/ref&gt;<br /> <br /> Additional complications can involve technical errors such as failure of the specimen to grow sufficiently in the laboratory and uncertain laboratory results. If this occurs, amniocentesis is still an option after 15 weeks.<br /> <br /> ===Results and Accuracy===<br /> <br /> The accuracy of CVS to detect chromosome abnormalities is quite high, at around 98-99% &lt;ref&gt;Hall, Judith G. &quot;Chromosomal Clinical Abnormalities.&quot; In Nelson Textbook of Pediatrics. Edited by Richard E. Behrman et al. Philadelphia: Saunders, 2004.&lt;/ref&gt;. Although it has a high accuracy rate to diagnose most major chromosomal problems, CVS does have some limitations. Having a negative result for an abnormality does not rule out ALL genetic defects the baby may have. Comparatively to amniocentesis, CVS does NOT detect neural tube defects such as spina bifida, or anencephaly. <br /> The type of chromosome abnormalities detected by CVS will be further discussed in detail below.<br /> <br /> ===Limitations===<br /> [[file:Double_tetrasomy_18_mosaicism.jpg‎|thumb|250 px|Example of a child with double tetrasomy 18+ mosaicism.]]<br /> <br /> '''Maternal contamination'''<br /> <br /> Since the villus sample also involves maternal cells, there is a possibility that they may take over the laboratory culture instead, consequently leading to the mother's cells being tested instead of the fetus's cells. The risk of this happening is low however and is decreased when the sample contains an adequate amount of fetal cells.<br /> <br /> <br /> '''Mosaicism'''<br /> <br /> &quot;Mosaicism&quot; occurs when both abnormal and normal cells are found in the chorionic villi. Mosaicism can involve both the fetus (true fetal mosaicism) and the placental tissues or the placental tissues alone. When this happens, cells that multiply from these abnormal cells may develop a chromosome anomaly.<br /> What can result is that in certain body organs the fetus has a combination of cells that are abnormal and normal in genetic structure. <br /> The rate of the placental type occuring is found in 1-2% of pregnancies detected by CVS.&lt;ref&gt;&lt;pubmed&gt;9316125&lt;/pubmed&gt;&lt;/ref&gt; When mosaicism is detected by CVS, the limitation lies in the inability to conclude that the baby itself and not just the placental tissues will share the mosaicism. Even if the baby is affected, it will be unclear as to what percentage of the fetal cells and the type of organs that will be affected.&lt;ref&gt;Trofatter. K.F. 2008. Chromosomal Mosaicism Detected at the Time of Chorionic Villus Sampling. Accessed on 15 September 2010. http://www.healthline.com/blogs/pregnancy_childbirth/2008/03/chromosomal-mosaicism-detected-at-time.html&lt;/ref&gt;<br /> <br /> =Risks=<br /> <br /> <br /> When Chorionic Villus Sampling is performed, a small sample of the placenta is removed for analysis. The placenta contains fetal material, therefore can reveal genetic defects which may lead to problems or abnormalities. &lt;ref&gt;&lt;pubmed&gt;20664398&lt;/pubmed&gt;&lt;/ref&gt; This prenatal test can be performed as early as 11 weeks into the pregnancy, this is earlier than many prenatal diagnosis tests, which is why many parents choose CVS as they can have solid information earlier in the pregnancy. Some common risks which are not under current research include: Cramping, light blood spotting, pain, fever and chills, leakage (which can be a major concern as it can lower amniotic fluid to a dangerous level for the infant), and potential for missing fingers and toes in the newborn. For this reason, the procedure is only recommended for women who are at least 11 weeks pregnant. &lt;ref&gt;&lt;pubmed&gt;20051662&lt;/pubmed&gt;&lt;/ref&gt; The other major risks that are currently being researched are outlined below<br /> <br /> ====Transabdominal vs Transcervical CVS. Comparison of risks====<br /> <br /> <br /> [[File:CVS_Table.jpg|left|thumb|280px|Transabdominal vs Transcervical risks]]<br /> <br /> This table shows the symptoms of women approximately 3 days after sampling. The table shows women who had undergone transcervical sampling had higher frequencies of fluid leakage, vaginal spotting, and bleeding. When a tenaculum is not used, the frequency of vaginal spotting and bleeding persisted in the transcervical-sampling group. Only two women, both in the transcervical-sampling group, had a temperature above 38°C. &lt;ref&gt;Jackson, L.G., Zachary, J.M., Fowler, S.E., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Mahoney, M.J., Pergament, E., Simpson, J.L., Black, S. &amp; Wapner, R.J. 1992, &quot;A Randomized Comparison of Transcervical and Transabdominal Chorionic-Villus Sampling&quot;, New England Journal of Medicine, vol. 327, no. 9, pp. 594-598.&lt;/ref&gt;<br /> <br /> <br /> ====Miscarriage====<br /> <br /> One of the biggest risks of Chorionic Villus Sampling is miscarriage. In one to 100 or 200 cases, the procedure is linked with miscarriage. &lt;ref&gt;&lt;pubmed&gt;19155918&lt;/pubmed&gt;&lt;/ref&gt; In an experienced clinic, this rate may go down to one in 300 to 400. To lower the risk of miscarriage with Chorionic Villus Sampling, it is recommended the procedure be performed by an experienced clinician<br /> <br /> <br /> ====Oligohydramnios====<br /> <br /> Oligohydramnios is a condition due to low amniotic fluid level, which is caused by amniotic fluid leakage. Amniotic fluid leakage is typically caused by fetal urinary tract abnormalities such as Potter's syndrome, polycystic kidneys, or genitourinary obstruction. But leakage can sometimes be caused by sampling of the chorionic villi due to insertion of the needle. If the resulting oligohydramnios is not treated and the amniotic fluid continues to leak it can result in the baby developing hypoplastic lungs (underdeveloped lungs). &lt;ref&gt;&lt;pubmed&gt;17694578&lt;/pubmed&gt;&lt;/ref&gt;&lt;br&gt;&lt;br&gt;<br /> <br /> <br /> '''Why would you use CVS over other techniques?'''<br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ Advantages and Disadvantages of Chorionic Villus Sampling<br /> ! Advantages !! Disadvantages <br /> |-<br /> |Can be performed earlier in pregnancy than amniocentesis (at around ten weeks).<br /> <br /> Results are available faster<br /> <br /> Cells obtained are mitotically active<br /> <br /> Amount of tissue obtained is preferable for DNA analysis.<br /> <br /> It is almost 100% reliable in detecting chromosomal and genetic defects.<br /> |It carries a slightly higher risk of miscarriage (1%-2%) than does amniocentesis<br /> <br /> It's less commonly available than amniocentesis, and fewer doctors are experienced in the procedure.<br /> <br /> It entails a greater risk of distorted results than does amniocentesis due to presence of mother's cells in the sample and discrepancies between chorionic villi and fetal genes.<br /> <br /> Metabolic disorders are difficult to diagnose and must be confirmed with amniocentesis.<br /> <br /> Because of the early gestational age at which the test is performed, fetal anatomy cannot be seen as well as it can at the time amniocentesis is performed.<br /> |-<br /> |}<br /> &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt;<br /> <br /> =Abnormalities found by CVS prenatal diagnostic technique=<br /> <br /> [[File:Down-normal.gif|right|thumb|280px|Normal]]<br /> <br /> [[File:Down-extra.gif|right|thumb|280px|third copy of chromosome 21]]<br /> <br /> The cells collected by CVS are sent to a cytogenetics laboratory. There the cells are cultured (stimulated to grow and divide) for 10-14 days. After enough cells are obtained, a banded karyotype is performed. This means that the fetal chromosomes in the cultured cells are stained and subsequently photographed. The photographed chromosomes are then ordered by number, counted and checked for structural abnormalities. There should be 46 chromosomes, 23 pairs. A boy's karyotype is described as 46,XY and a girl's karyotype is described as 46,XX.&lt;ref&gt;Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., de, l.C., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Lubs, H.A., Mahoney, M.J., Pergament, E., Simpson, J.L., Carpenter, R.J., Elias, S., Ginsberg, N.A., Goldberg, J.D., Hobbins, J.C., Lynch, L., Shiono, P.H., Wapner, R.J. &amp; Zachary, J.M. 1989, &quot;The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities&quot;, New England Journal of Medicine, vol. 320, no. 10, pp. 609-617. &lt;/ref&gt;<br /> <br /> <br /> <br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ This table shows what disorders CVS detects, the cause, frequency and any comments<br /> ! Disorder !! Cause !! Comments !! Frequency !! Picture <br /> |-<br /> |[[ Trisomy 21 | Down Syndrome ]]<br /> |A third copy of chromosome 21<br /> <br /> Normally, there are only two copies of this chromosome<br /> |The average IQ of children with Down syndrome is around 50, compared to normal children with an IQ of 100. Complications for people with down syndrome include: congenital heart defects, gastroesophageal reflux disease, recurrent ear infections, obstructive sleep apnea, and thyroid dysfunctions. &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt; The picture shows a newborn infant with Down Syndrome (Trisome 21)<br /> |Approximately 1 in 1,000 births &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt;<br /> |[[File:Trisomy_21_newborn.jpg|right|200 px]]<br /> |-<br /> |[[ Trisomy 13 | Trisomy 13 ]]<br /> |A third copy of chromosome 13<br /> <br /> Normally, there are only two copies of this chromosome<br /> |Also called Patau syndrome. This abnormality causes mental and motor abnormalities, polydactyly (extra digits), kidney defects, abnormal genitalia and heart defects, among many others. &lt;ref&gt;Driscoll, D.A. &amp; Gross, S. 2009, &quot;Prenatal Screening for Aneuploidy&quot;, New England Journal of Medicine, vol. 360, no. 24, pp. 2556-2562. &lt;/ref&gt; The picture shows an infant with polydactyly, a potential complication of Trisome 13<br /> |Less than 1% <br /> |[[File:220px-Patauhand.PNG|right|200 px]]<br /> |-<br /> |[[ Trisomy 18 | Trisomy 18 ]]<br /> |A third copy of chromosome 18<br /> <br /> Normally, there are only two copies of this chromosome<br /> |Also known as Edwards syndrome. It has a very low survival rate, due to: kidney and heart defects, intestines protruding outside the body, mental abnormalities, growth disorders, feeding and breathing difficulties. &lt;ref&gt;Driscoll, D.A. &amp; Gross, S. 2009, &quot;Prenatal Screening for Aneuploidy&quot;, New England Journal of Medicine, vol. 360, no. 24, pp. 2556-2562. &lt;/ref&gt; The picture shows a clenched hand and overlapping fingers: index finger overlaps third finger and fifth finger overlaps fourth finger, characteristically seen in Trisomy 18.<br /> |1 in 3,000 conceptions and approximately 1 in 6,000 live births <br /> |[[File:200px-Overlapping_fingers.JPG|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Cystic_fibrosis Cystic Fibrosis]<br /> |A mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR) in chromosome 7.<br /> |An autosomal recessive disease that causes excessive sticky mucous to form on mucosal surfaces effecting the digestive and respiratory organs. &lt;ref&gt;Levison, J.H., Barbieri, R.L., Katz, J.T. &amp; Loscalzo, J. 2010, &quot;Hard to Conceive&quot;, New England Journal of Medicine, vol. 363, no. 10, pp. 965-970. &lt;/ref&gt; The picture shows clubbing of the fingers in a person with cystic fibrosis<br /> |Approx 1 in 3,000 <br /> |[[File:220px-ClubbingCF.JPG|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Hemoglobinopathy Hemoglobinopathy]<br /> |Structural abnormalities in the globin proteins <br /> |Multiple types of abnormal haemoglobins exist including Haemoglobin S, C E and D that alter the structure of these proteins. A common defect is sickle cell disease.&lt;ref&gt;Abboud, M.R. 2009, &quot;Hematopoietic Stem-Cell Transplantation for Adults with Sickle Cell Disease&quot;, New England Journal of Medicine, vol. 361, no. 24, pp. 2380-2381. &lt;/ref&gt;<br /> |Hemoglobinopathies are a genetic defect and therefore an inherited disorder, frequency depends on which particular hemoglobinopathy is being discussed, eg. in the case of Sickle cell disease, it is estimated that 7% of worlds population are carriers<br /> |[[File:Series_10-09.jpg|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease Tay Sachs Disease]<br /> |mutations on chromosome 15 in the HEXA gene <br /> |It is a rare autosomal recessive defect inherited from parents that are carriers for the disease. Affected individuals suffer from premature nerve cells death in the brain. &lt;ref&gt;&lt;pubmed&gt;20100466&lt;/pubmed&gt;&lt;/ref&gt;<br /> |Approx 1 in 300 are carriers<br /> |[[File:220px-Autorecessive.svg.png|right|200 px]]<br /> |-<br /> |}<br /> <br /> =Outcomes=<br /> <br /> Since CVS is able to detect a variety of chromosome abnormalities, there is a chance that the baby may be affected with a defect. If the test results are normal however, this does not exclude other congenital defects and neural tube defects that can occur that can be detected by other prenatal diagnosis methods. IF the test result is positive and a defect is detected by CVS, the mother has several options available. One is to terminate the pregnancy and the other is to seek treatment after the baby is born. If the mother chooses to terminate the pregnancy, doctors have a responsibility to educate the mother and offer counseling.<br /> <br /> Doctors should:<br /> <br /> *Give parents information about the defect so that they can be prepared.<br /> *Talk to parents about the baby's predicted quality of life.<br /> *Should explain any procedures that will be done to the baby after he is born.<br /> *Doctors should do their best to tell parents what the problem is and how serious it is.<br /> <br /> Abortion is the termination of pregnancy, with the removal of the fetus and placenta from the uterus. In Australia, abortion laws vary by state and usually allow this up to a range of about 12 - 20 weeks into the pregnancy, on the grounds of fetal abnormalities, endangerment of the mother and other socio-economic factors.&lt;ref&gt;Cica. N., 1998. Abortion Law in Australia. Parliament of Australia, Parliamentary Library. Accessed September 29. 2010. &lt;http://www.aph.gov.au/library/pubs/rp/1998-99/99rp01.htm&gt;&lt;/ref&gt; If the mother chooses to terminate the pregnancy, counselling is usually done to make sure the parents understand the issues and ethics surrounding abortion.<br /> There are currently two ways to perform an abortion:<br /> <br /> '''Surgical abortion -''' Also called suction aspiration, or suction currette, this is the most common procedure used for first trimester abortion(up to 12 weeks) The cervix is dilated, and a tube is inserted through the cervix and a suction removes the fetus and the placenta. A curette is then used to scrape the wall of the uterus to ensure any remains are not left inside. If later in pregnancy, other surgical techniques are used. <br /> <br /> '''Medical abortion -''' ''(Note: Not applicable in this case due to CVS being performed at 10-12 weeks.)''This involves administration of a drug called mifepristone (RU486). Available for abortions earlier than 2-9 weeks, it is a low-risk and effective method instead of the surgical method earlier in pregnancy. Usage of the drug is available in many countries but is currently restricted in Australia.<br /> <br /> ===Treatment===<br /> <br /> If the mother decides to continue on with the pregnancy, treatment options are necessary for the baby after birth to maintain the health and symptoms associated with a defect. Some of these management options for some of the defects will be discussed below. <br /> <br /> '''Down Syndrome'''<br /> <br /> Treatment and therapies for Down syndrome available include the physical, medical and cognitive problems associated with Down Syndrome. Medical treatment such as surgery or medications, while early intervention programs and therapies help babies and children achieve better quality of life. For example, children with Down Syndrome have a higher risk for having many conditions such as congenital heart defects, problems with the thyroid, muscles, joint, vision and hearing problems. Medications can be used to treat these different problems, such as if the thyroid is affected, a child will benefit from taking thyroid replacement hormones. Medications aim to control the symptoms and reduce the impact the condition will have on the baby. There is no medication that can cure chromosome abnormalities. Some individuals affected with cardiac and gastrointestinal problems may also need surgery soon after birth. Regular screening for vision problems, hearing, hypothyroidism, and other medical conditions should be performed.<br /> <br /> Cognitive development can be assisted with physiotherapy and speech therapy for example. Since children with Down Syndrome can have speech problems due to their relatively small mouths and large tongue, speech therapy can help the child to communicate properly. Physical therapy is often needed since individuals with Down Syndrome have hypotonia (low muscle tone)which needs to be improved by developing motor skills.<br /> <br /> '''Trisomy 13'''<br /> <br /> Since Trisomy 13 causes a range of serious complications like congenital heart disease and brain and spinal cord abnormalities, the survival rate is low, with a median survival time of 2.5 days. &lt;ref&gt;&lt;pubmed&gt;11310997&lt;/pubmed&gt;&lt;/ref&gt; Treatment is usually directed towards the specific symptoms that are present in the affected child, which differs to each individual. In some cases, treatment may include surgical procedures to correct cleft lip and palate, or surgery to correct heart defects. This will depend upon the severity and nature of the abnormalities and symptoms.&lt;Ref&gt;Stewart, K. B., 2007. Trisomy 13 - Patau Syndrome. [Fact sheet] Centre for Genetics Education. Accessed 29 September, 2010. &lt;http://www.genetics.com.au/pdf/factsheets/fs29.pdf&gt;&lt;/ref&gt;<br /> <br /> '''Cystic fibrosis'''<br /> <br /> There is currently no cure for cystic fibrosis, but various treatment methods can manage the symptoms of lung and digestive problems, liver and gallbladder diseases and infertility. Digestive problems can be corrected by having a diet that is low in fat and high in protein, with vitamin supplements. Regular antibiotics are prescribed to prevent and to treat lung infections, and mucolytics are needed to make the mucous less sticky. Other methods to dislodge and remove mucous is manual chest physiotherapy, where it consists of bronchial drainage done manually or mechanically. Manual drainage can be done by performing controlled breathing techniques or the chest is vibrated or clapped to dislodge the mucous out of the airways. &lt;ref&gt;&lt;pubmed&gt;18079549&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> '''Tay-sachs disease'''<br /> <br /> The prognosis for babies with the condition is usually poor, with children living to the age of 4-5.&lt;ref&gt;National Institute of Neurological Disorders and Stroke. 2007. Tay-Sachs Disease Information Page. Accessed September 29, 2010. &lt;http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm&gt;&lt;/ref&gt; Therefore treatment for Tay-sachs disease is usually to help alleviate symptoms associated with the disease. Spasticity and siezures can be helped by administering anticonvulsants, while other supportive methods include respiratory care to keep the airway open and proper nutrition and hydration.<br /> <br /> =Ethical concerns=<br /> <br /> =Current associated research=<br /> <br /> Chorionic Villus Sampling (CVS) is one of many prenatal diagnostic tools for expectant mothers, it is popular since it can be used to identify potential problems with a fetus at a very early stage. However, the procedure does carry some risks, as does any invasive diagnostic procedure. As chorionic villus sampling is a relatively new technique, made available for safe routine use only 20 years ago, the current associated research is mainly associated with risks associated with the procedure, and ways to overcome these risks. The next section in this page will discuss the current research on CVS and the risks involved in the procedure, and not what the test results may find. <br /> <br /> ====Hypertensive disorders of pregnancy====<br /> <br /> Hypertension, or high blood pressure, is a condition where systemic arterial blood presssure is elevated. Hypertension is one of the most common medical problem during pregnancy, affecting about 2-3% of pregnancies.&lt;ref&gt;Gibson, P., Carson, M.P, 2010. Hypertension and Pregnancy. Accessed 29 September, 2010. &lt;http://emedicine.medscape.com/article/261435-overview&gt;&lt;/ref&gt;<br /> Pregnancy induced hypertension is a condition that can occur during and after the 20th week of pregnancy. The types of hypertensive disorders can include:<br /> <br /> [[File:Enamel_Hypoplasia_Due_to_Maternal_Toxemia.jpg|thumb|200px|right|Enamel hypoplasia due to maternal toxemia]]<br /> <br /> *Pre-eclampsia or toxemia – Characterised as high blood pressure above 140/90 with proteinuria (protein in the urine that is above 300mg)<br /> * Eclampsia - Developed in a pregnant woman who has had pre-eclampsia and is characterised by seizures <br /> * Gestational hypertension – arterial hypertension that occurs after the 20th week of gestation <br /> <br /> If untreated, the condition may develop into HELLP syndrome which is a serious complication noted by hemolytic aneamia, elevated liver enzymes and a low platelet count. <br /> <br /> <br /> There has been conflicting evidence in literature that suggests that CVS is associated with hypertensive disorders in pregnancy such as pre-clampsia and gestational hypertension. In several studies, such as data from the National Institute of Health that compared late CVS procedures with early amniocentesis, showed a higher rite of gestational hypertension and preeclampsia in pregnant mothers.&lt;ref&gt;&lt;pubmed&gt;15738029&lt;/pubmed&gt;&lt;/ref&gt; (5.4% for mothers who had CVS and 3.5% that had amniocentesis.) It was hypothesized that disruption and disturbance of the placenta at 13-14 weeks may increase the risk of maternal hypertension. In addition, another recent study in 2006 also reported that there was an increase in the rate of pre-clampsia in first-time expectant mothers who have had CVS.&lt;ref&gt;&lt;pubmed&gt;19455602&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> However, in a very recent data investigation of among 9098 women that were pregnant between 1990 and 2006, the overall incidence of hypertensive disorders with women who have had CVS was 2.7% compared to the control group that did not have the procedure done which was 7.1%.&lt;ref&gt;&lt;pubmed&gt;19918960&lt;/pubmed&gt;&lt;/ref&gt; Similarly, in a study conducted by The American College of Obstetricians and Gynecologists,&lt;ref&gt;&lt;pubmed&gt;20664398&lt;/pubmed&gt;&lt;/ref&gt; 31, 138 women were that were included in the investigation showed that 2.2% developed preeclampsia and 2.8% developed gestation hypertension. Only 7.8% of those individuals had previously had CVS procedure performed. <br /> <br /> Although it can be said that some woman may develop hypertensive disorders during pregnancy that have also had the CVS procedure done in the past, there is no conclusive evidence so far that definitively associates CVS with hypertensive disorders such as pre-clampsia and gestation hypertension.<br /> <br /> ====Malformations====<br /> [[File:Craniosynostosis_.jpg|right|250 px]]<br /> <br /> <br /> Many malformations were thought to be a result of more invasive prenatal diagnostic techniques such as chorionic villus sampling. These malformations include, but are not limited to, cardiac malformations, hypospadias, craniosynostosis, pyloric stenosis, inguinal hernia, polydactyly, syndactyly, hydrocephalus and cleft lip and palate. Although these studies have now confirmed no known relationship with CVS, we will mention some below. &lt;ref&gt;&lt;pubmed&gt;7937577&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> '''Craniosynostosis''' is a condition where one of the sutures of the skull prematurely fuses, this causes the other sutures to compensate in growth for the fused suture. In normal development of the skull, the sutures allow for brain growth, so if one suture fuses prematurely, the brain can not grow normally, and the other sutures over expand in compensation. In the shown image, pictures a1 and a2 show the normal development and fusing of the infant skull. b2 shows how a suture is prematurely fused and b1 shows how the abnormality shows in an infant child.<br /> Craniosyntosis may result in increased pressure on the brain and developmental delays. Treatment of craniosynostosis usually consists of surgery to the skull where a zigzag incision is made to make the hair look more natural than the scar left by a straight incision. The surgery separates the sutures that have joined together to allow the head to develop normally.<br /> <br /> &lt;ref&gt;Silver, R.K., Macgregor, S.N., Muhlbach, L.H., Knutel, T.A. &amp; Kambich, M.P. 1994, &quot;Congenital malformations subsequent to chorionic villus sampling: Outcome analysis of 1048 consecutive procedures&quot;, Prenatal diagnosis, vol. 14, no. 6, pp. 421-427. &lt;/ref&gt;<br /> <br /> [[File:Polydactyly.jpg|left|200 px]]<br /> '''Polydactyly''' is a congenital condition where an extra digit is formed. Mostly it occurs on only one hand or foot, but sometimes can occur on all limbs. The extra digit is mostly a small non-function appendage of skin, less often it is an extension of the adjacent digit, and rarely it is a fully functioning finger that arises from the wrist or ankle joint like the other digits. Polydactyly can be described as: <br /> <br /> ● postaxial polydactyly (arising from the little finger)<br /> <br /> ● preaxial polydactyly (arising from the thumb) or<br /> <br /> ● central polydactyly (arising from anywhere between the other digits)<br /> <br /> Polydactyly is seen in 1 in every 500 births, but the extra digit is usually surgically removed shortly after birth<br /> &lt;ref&gt;&lt;pubmed&gt;20661588&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> [[File:Syndactyly2.JPG|left|200 px]]<br /> '''Syndactyly''' is also a congenital condition, but is seen when digits are fused together. Syndactyly can be described as:<br /> <br /> ● simple syndactyly (where only skin is fused to the adjacent finger)<br /> <br /> ● complex syndactyly (where the bone is fused together)<br /> <br /> ● incomplete syndactyly (where fusion is only part of the way up the digit), and,<br /> <br /> ● complete syndactyly (where fusion is to the tip of the digit)<br /> <br /> The picture on the left shows an example of polysyndactyly, where the digits are both fused, and there is an extra digit.<br /> &lt;ref&gt;&lt;pubmed&gt;20811188&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> <br /> <br /> <br /> <br /> ====Hemangiomas====<br /> <br /> [[File:Capillary_haemangioma.jpg|thumb|200px|right|Hemangioma]]<br /> <br /> A hemangioma is a benign tumour growth of endothelial cells that can occur in newborns and infants. Hemangiomas can occur anywhere in the body but are often localised on the skin of the face and neck, and are characterised by a red to reddish purple raised lesion on the skin, similarly to a &quot;strawberry&quot; like appearance. Its red appearance is due to the newly formed blood vessels, which result from the malformation of angioblastic tissues of fetal life.&lt;ref&gt;&lt;pubmed&gt;7063565&lt;/pubmed&gt;&lt;/ref&gt; <br /> Most hemangiomas do not cause any serious complications, and regress later on in life, where 90% of hemangiomas in children would disappear by the age of 9. <br /> <br /> Recently, research has linked the increase in the incidence of hemangiomas in infants following CVS. It has been postulated that the mechanism of hemangioma formation is associated with the embolisation of angioblasts or endothelial cells from the placenta to the fetal skin.&lt;ref&gt;&lt;pubmed&gt;19218861&lt;/pubmed&gt;&lt;/ref&gt; Although this may link hemangiomas to placental origin, it is unclear how, or whether CVS directly interferes or enhances the formation of these lesions. However, a recent study that compared the effects of CVS and amniocentesis on the prevalence of hemangiomas in infants showed that 27% of the study group had hemangiomas with CVS compared to 9.4% in children with hemangiomas and amniocentesis. &lt;ref&gt;&lt;pubmed&gt;20824891&lt;/pubmed&gt;&lt;/ref&gt; Furthermore, in an previous study conducted in 1995, there was a threefold increase in incidence after trancervical procedure was done, compared to amniocentesis.&lt;ref&gt;Lo, K., Mihm, M. &amp; Fay, A. 2009, &quot;Current Theories on the Pathogenesis of Infantile Hemangioma&quot;, Seminars in ophthalmology, vol. 24, no. 3, pp. 172-177. &lt;/ref&gt;&lt;ref&gt;&lt;pubmed&gt;7784377&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> =Future of Chorionic Villus Sampling and Prenatal diagnosis techniques=<br /> <br /> Prenatal diagnosis has been used to detect chromosomal abnormalities, especially Down’s syndrome, for over 30 years. As we have discussed on this page, the most common forms of prenatal diagnosis are amniocentesis, CVS and ultrasound. The type of test used depends on the history of the parents, any abnormalities detected in the initial ultrasound examination, and preferences of the parents. Testing for chromosomal abnormalities using amniocentesis and CVS is invasive and somewhat time consuming. Research in the field of prenatal diagnosis is looking toward making detection of abnormalities non invasive, using the fetal cells from maternal circulation. Some recent advancements in this field include the use of fluorescence in situ hybridisation (FISH), quantitative fluorescence-PCR techniques , and comparative genomics. The waiting time for these tests is usually only 1 to 2 days for chromosomal abnormalities.<br /> <br /> fluorescence in situ hybridisation (FISH):<br /> <br /> quantitative fluorescence-PCR techniques:<br /> <br /> comparative genomics:<br /> <br /> =Useful links=<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Wikipedia'''[http://en.wikipedia.org/wiki/Chorionic_villus_sampling Chorionic villus sampling]<br /> <br /> '''Fact sheets''' [http://www.thewomens.org.au/ChorionicVillusSamplingCVS Chorionic villus sampling]<br /> <br /> '''Images''' [http://www.google.com.au/images?q=chorionic+villus+sampling&amp;oe=utf-8&amp;rls=org.mozilla:en-US:official&amp;client=firefox-a&amp;um=1&amp;ie=UTF-8&amp;source=univ&amp;ei=yCWcTKT-NsircY-nzNEJ&amp;sa=X&amp;oi=image_result_group&amp;ct=title&amp;resnum=4&amp;ved=0CD4QsAQwAw&amp;biw=1280&amp;bih=615 Chorionic villus sampling]<br /> <br /> '''You tube video of procedure''' [http://www.youtube.com/watch?v=0XUZsvTkEnw Chorionic villus sampling]<br /> <br /> =Glossary=<br /> <br /> '''Amniocentesis''' - A prenatal diagnostic test involving sampling of amniotic fluid by needle aspiration for genetic analysis.<br /> <br /> '''Amnion''' - An extraembryonic membrane ectoderm and extraembryonic mesoderm in origin and forms the innermost fetal membrane, produces amniotic fluid. This fluid-filled sac initially lies above the trilaminar embryo disc and with embryoic disc folding this sac is drawn ventrally to enclose (cover) the entire embryo, then fetus.<br /> <br /> '''Amniotic cavity''' - The fluid-filled (amniotic fluid) extraembryonic coelom (cavity) formed initially by epiblast and then ectoderm and surrounding extraembryonic mesoderm. In humans, it forms the innermost fetal membrane, produces amniotic fluid expanding to fuse with the chorionic membrane during week 8 of development.<br /> <br /> '''Amniotic fluid''' - The fluid that fills amniotic cavity totally encloses and cushions the embryo.<br /> <br /> '''Cannula''' - A flexible medical tube with a sharp-pointed part at one end that is inserted into a duct, vein, or cavity in order to drain away fluid or to administer drugs<br /> <br /> '''Chorion''' - The extraembryonic membrane generated from trophoblast and extraembryonic mesoderm that forms placenta. chorion and amnion are made by the somatopleure. The chorion becomes incorporated into placental development. The avian and reptilian chorion lies beside the egg shell and allows gas exchange.<br /> <br /> '''Chorionic villus sampling (CVS)''' - The taking a biopsy of the placenta, usually at the end of the second month of pregnancy, to test the fetus for genetic abnormalities.<br /> <br /> '''Chromosome''' - double stranded DNA coiled around histones. Condenses during mitosis and meiosis.<br /> <br /> '''Ectoderm''' - One of the initial 3 germ cell layers, which will form the nervous system from the neural tube and neural crest and also generates the entire epithelial layer of the skin covering the embryo.<br /> <br /> '''Endoscope''' - a long slender medical instrument for examining the interior of a bodily organ or performing minor surgery<br /> <br /> '''Endoderm''' - One of the initial 3 germ cell layers (ectoderm, mesoderm and endoderm) formed by the process of gastrulation. The endoderm forms as a cuboidal epithelium and contributes not only to the trilaminar embryo, but also lines the yolk sac. It will form the entire epithelial lining of the gastrointestinal tract (GIT), contribute to the accessory organs of GIT and also forms the epithelial lining of the respiratory tract.<br /> <br /> '''Fetus''' - In mammals, term describes the period of development following the embryonic period. In humans, the development week 9 to 36 is the fetal stage (second and third trimester). (see fetal period above). This term is also used non-scientifically to describe the human conceptus at both embryonic and fetal stages of development.<br /> <br /> '''Gene''' - A DNA sequence that is transcribed as a single unit and encodes a single polypeptide (protein) or a set of closely related polypeptides. There are approximately 20,000-25,000 protein encoding genes in the human genome. In each cell, DNA is found within the nucleus and also within mitochondria.<br /> <br /> '''Gestation''' - The period of time from conception to birth. A pregnancy with multiple fetuses is referred to as a multiple gestation.<br /> <br /> '''Mesoderm''' - The middle layer of the 3 germ cell layers of the trilaminar embryo.<br /> <br /> '''Miscarriage''' - A general clinical term for the loss of embryo or fetus by spontaneous abortion.<br /> <br /> '''Mitosis''' - The normal division of all cells, except germ cells, where chromosome number is maintained (diploid). <br /> <br /> '''Prenatal diagnosis''' - any of the diagnostic procedures used to determine whether a fetus has a genetic abnormality<br /> <br /> '''Tenaculum''' - instrument used to grasp the cervix and keep the uterus in place during gynecological procedures.<br /> <br /> '''Termination''' - The spontaneous or artificially induced expulsion of an embryo or fetus. As used in legal context, the term usually refers to induced abortion.<br /> <br /> '''Transabdominal''' - In the transabdominal CVS technique, the physician inserts a needle through the abdomen into the placenta. This is also done with ultrasound, to guide the physician<br /> <br /> '''Transcervical''' - In the transcervical CVS technique, the physician inserts a small tube through the cervix into the placenta. This is done while ultrasound guides the physician<br /> <br /> '''Ultrasound''' - A non-invasive technique for visualizing and prenatal diagnosis of several features of development including: follicles in the ovaries, the gestational sac, fetus in the uterus, fetal parameters, and the placenta. The technique uses high-frequency sound waves that are reflected off internal structures. These reflections can then be analysed and displayed by computer.<br /> <br /> '''Villi''' - Plural of villus, which is a thin projection from a surface. A term used to describe the many functional units together of the fetal placenta. <br /> <br /> '''Vitelline arteries and veins''' - The blood vessels which form in the extraembryonic mesoderm of the yolk sac and anastomose are called vitelline arteries (flow away from the embryo) and vitelline veins (flow toward the embryo).<br /> <br /> ==Prenatal Diagnosis Terms==<br /> <br /> '''false negative rate''' - The proportion of pregnancies that will test negative given that the congenital anomaly is present.<br /> <br /> '''false positive rate''' - The proportion of pregnancies that will test positive given that the congenital anomaly is absent.<br /> <br /> '''negative predictive value''' - The probability that a congenital anomaly is absent given that the prenatal screening test is negative.<br /> <br /> '''positive predictive value''' - The probability that a congenital anomaly is present given that the prenatal screening test is positive.<br /> <br /> '''pre-implantation genetic diagnosis''' - (PGD) a screening procedure for embryos produced through in vitro fertilisation (IVF) for genetic diseases that would generate developmental abnormalities or serious postnatal diseases.<br /> <br /> '''prenatal screening sensitivity''' - (detection rate) The probability of testing positive on a prenatal screening test if the congenital anomaly is present.<br /> <br /> '''prenatal screening specificity''' - The probability of testing negative on a prenatal screening test if the congenital anomaly is absent.<br /> <br /> <br /> ==Glossary Links==<br /> <br /> :[[A|A]] | [[B|B]] | [[C|C]] | [[D|D]] | [[E|E]] | [[F|F]] | [[G|G]] | [[H|H]] | [[I|I]] | [[J|J]] | [[K|K]] | [[L|L]] | [[M|M]] | [[N|N]] | [[O|O]] | [[P|P]] | [[Q|Q]] | [[R|R]] | [[S|S]] | [[T|T]] | [[U|U]] | [[V|V]] | [[W|W]] | [[X|X]] | [[Y|Y]] | [[Z|Z]] | [[Numbers|Numbers]]<br /> <br /> =References=<br /> &lt;references/&gt;<br /> <br /> == 2010 ANAT2341 Group Projects ==<br /> <br /> [[2010_Group_Project_1|Project 1 - Ultrasound]] | [[2010_Group_Project_2|Project 2 - Chorionic villus sampling]] | [[2010_Group_Project_3|Project 3 - Amniocentesis]] | [[2010_Group_Project_4|Group Project 4 - Percutaneous Umbilical Cord Blood Sampling]] | [[2010_Group_Project_5|Project 5 - Fetal Fibronectin]] | [[2010_Group_Project_6|Project 6 - Maternal serum alpha-fetoprotein]] | [[ANAT2341_2010_Students|Students Page]]<br /> <br /> <br /> {{Template:Footer}}<br /> [[Category:2010ANAT2341]] [[Category:Science-Undergraduate]]</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=User:Z3265772&diff=38799 2010-09-29T23:18:07Z

<p>Z3265772: /* Attendance */</p> <hr /> <div>===Group 2===<br /> <br /> [[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> <br /> ==Attendance==<br /> <br /> --[[User:Z3265772|z3265772]] 23:43, 28 July 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 22:57, 4 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:14, 11 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 00:03, 19 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:06, 25 August 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:54, 1 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:08, 15 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:13, 22 September 2010 (UTC)<br /> <br /> --[[User:Z3265772|z3265772]] 23:18, 29 September 2010 (UTC)<br /> <br /> ==Lab Questions==<br /> <br /> ===Lab 1 Questions===<br /> <br /> Complete tasks associated with the online individual and group assessments including:<br /> <br /> 1. Demonstrate the ability to create an attendance signature.<br /> <br /> 2. Create a subheading, link and add an image to student page.<br /> <br /> learning to use page<br /> <br /> internal link [[2010_Lecture_2|Cell division]]<br /> <br /> external link [http://www.smh.com.au/ SMH]<br /> <br /> [[Fertilization|lecture 2]]<br /> <br /> picture<br /> <br /> [[File:Early_zygote.jpg|right]]<br /> <br /> ====Search Pubmed====<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed Now:''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> <br /> 3. Vote here (with student signature) for the major topic for the group project before Lab 2.<br /> <br /> ===Lab 2 Questions===<br /> <br /> 1. What factor do the synctiotrophoblast cells secrete to support the ongoing pregnancy?<br /> <br /> Syncytiotrophoblasts secrete Human Chorionic Gonadotropin (hCG) hormone, which prevents degeneration of the corpus luteum <br /> <br /> 2. What does the corpus luteum secrete to prevent continuation of the menstrual cycle?<br /> <br /> Progesterone, which helps make the endometrial lining ready for implantation if an egg is fertilized. Progesterone also changes the endometrium to a secretory lining (from proliferative), which creates an ideal environment for the blastocyst.<br /> <br /> ===Lab 3 Questions===<br /> <br /> <br /> <br /> 1. What Carnegie stages occur during week 3 and week 4?<br /> <br /> Carnegie stages 7 (gastrulation and notochord formation) to 13 (Somite no. 21-29, caudal neuropore closes)<br /> <br /> 2. What is the change in overall embryo size form the beginning of week 3 to the end of week 4?<br /> <br /> embryo has grown 2.6mm to 4.6mm. (week 4. 3mm to 5mm - week 3. 0.4mm)<br /> <br /> 3. Approximately when do the cranial (anterior) and caudal (posterior) neuropores close in the human embryo? <br /> <br /> Cranial neuropore closes at carnegie stage 11, which is 23-26 days<br /> <br /> Caudal neuropore closes at carnegie stage 12-13, which is 26-30 days<br /> <br /> ===Lab 4 Questions===<br /> <br /> 1. Name the vessels that drain into the sinus venosus?<br /> <br /> the three venous inputs that drain into the sinus venosus are the vitelline vein, umbilical vein and common cardinal vein<br /> <br /> 2. What is the fate of the vitelline artery and vitelline vein?<br /> <br /> Vitelline arteries - arises from dorsal aorta, contribute to adult GIT arteries, fuse to become superior mesenteric artery<br /> <br /> Vitelline veins - empties into sinus venosus, contribute to the adult portal system<br /> <br /> 3. Name the 4 layers that constitute the placental barrier?<br /> <br /> syncitiotrophoblast, cytotrophoblast, villi connective tissue and fetal capillary endothelium<br /> <br /> 4. What stem cells are found in abundance, and may be harvested from the placenta for therapeutic uses?<br /> <br /> hematopoietic stem cells<br /> <br /> ===Lab 5 Questions===<br /> <br /> 1. What is the origin of the gastrointestinal tract smooth muscle? <br /> <br /> Splanchnic mesoderm<br /> <br /> 2. At what Carnegie stage does the buccopharyngeal membrane begin to break down? <br /> <br /> Carnegie stage 11<br /> <br /> 3. Identify the lung developmental stage in late embryonic to early fetal period. <br /> <br /> Lung development, budding of lungs from the trachea, starts to occur in Carnegie stage 22<br /> <br /> 4. In premature infant birth, which respiratory cell type may not have fully developed?<br /> <br /> Pnuemocytes type 2 (or alveolar type 2 cells) which produce surfactant.<br /> <br /> ===Lab 7 Questions===<br /> <br /> 1. Briefly; what is a myotube and how is it formed?<br /> <br /> myotubes are multi-nucleated cells which are formed by the the fusion of myoblasts <br /> <br /> 2. What changes would I expect to see in the muscle fibre types in my legs if I:<br /> <br /> a) Suffered a spinal cord injury: <br /> <br /> muscle atrophy in the legs. <br /> <br /> b) Took up marathon running: <br /> <br /> some of the fast muscle fibers in the legs would change to slow fibers.<br /> <br /> ===Peer Review Task===<br /> <br /> '''Group 1:''' The layout is really easy to follow, everything seems to be in the right order and flow really well. i could easily follow what they had written. One thing i found especially impressive, was that they had taken the time to explain every image when you click on it. this would've taken a lot of time and effort that isn't immediately available to see, but helpful if you need to know more about the image, you just click on it. <br /> What could be improved: in one of the tables, under the heading minor signs of trisomies, pleuxs should be plexus. i didnt see any other spelling mistakes though. Also, it seems only one person has contributed most of the work, and there are three in the group. i found this to be the case for most pages.<br /> <br /> <br /> '''Group 3:''' <br /> This project is very well written, and easy to follow. i loved the disorders section, with the table, graph and pictures it made it really easy to follow, and interesting! when you see a picture like the anencephaly one, it makes you stop and read what its about! I also like how many student drawn diagrams there are, they have really put in a lot of effort. I definitely learnt a lot from reading this page.<br /> <br /> What could be improved: The ethics section has no references, also the current research section seems to be copied straight from the internet. there are also a few spelling mistakes in the ethics section - waranted=warranted, phsychological=psychological<br /> <br /> <br /> '''Group 4:'''<br /> Felicias drawings are amazing! they go into so much detail and she has clearly put in so much effort in doing them! That was the first thing i noticed when looking at the page. I actually really like the overall feel of the page, and the bigger pictures help. The first two pictures really caught my attention and made me want to read all about PUBS. I did like all the dot points, because they made it a little easier to follow, but maybe a little simplistic. <br /> <br /> Improvements: Under the sample analysis heading, they have put 'the' twice. just need to delete one. Under the disorders section, they have put that unlike PUBS, CVS and amniocentesis do test for neural tube defects. CVS doesnt test for neural tube defects, only amniocentesis. Alot of the page in not referenced. Other than that, awesome job!<br /> <br /> <br /> '''Group 5:'''<br /> I liked the fact that everything is referenced, it made me feel like they have really researched what they have put on there. The page is very informative, if not a little simplistic, but i learnt alot about fetal fibronectin. i liked the student drawn diagram!<br /> <br /> improvements: definitely extra pictures. If you cant find any that you can use, start emailing the companies, this is how i got most of our permissions, as i couldnt find any with permissions. as a last resort try wiki, all of their pictures arent copyright protected. Also, probably best to go through the criteria for the page, youve missed the history altogether. Here it is for you:<br /> project outline:<br /> <br /> 1. Intro<br /> <br /> 2. historic background<br /> <br /> 3. current associated research<br /> <br /> 4. simplified description of technique<br /> <br /> 5. student drawn figure or animation<br /> <br /> 6. reference list<br /> <br /> 7. glossary<br /> <br /> 8. external links<br /> <br /> <br /> '''Group 6:'''<br /> <br /> I like how the page is organised, its easy to follow and the layout was great. The pictures helped me with understanding the sections, although maybe they could be a bit bigger. I did learn alot about Maternal serum alpha-fetoprotein from this page, Thanks!<br /> <br /> Improvements: Under the heading MSAFP testing and the community, there is a spelling mistake. liklihood should be likelihood, and servey should be survey. The page also looks a bit like an essay, maybe for some parts you could do a few tables to make it easier to follow</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=File:FetalFN.jpg&diff=38712 2010-09-29T08:09:18Z

<p>Z3265772: </p> <hr /> <div>Drawing of fetal fibronectin.<br /> <br /> Note that permission was given to group project 2 to use this image on their page</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=2010_Group_Project_2&diff=38710 2010-09-29T07:47:54Z

<p>Z3265772: /* Table Comparing Prenatal Diagnosis Techniques */</p> <hr /> <div>[[File:Embryo_11-14_weeks.jpg|right|400 px]]<br /> <br /> ='''Chorionic Villus Sampling (CVS)'''=<br /> <br /> =Introduction=<br /> <br /> [[Image:Gray31.png|thumb|350px|right|Grays]]<br /> <br /> <br /> Chorionic villus sampling or CVS is a type of prenatal diagnosis test performed in the first trimester to detect major fetal abnormalities such as down syndrome, cystic fibrosis and tay-sachs disease, among many others. In the procedure, tissue is withdrawn from small finger like projections on the placenta called chorionic villi and tested for chromosomal defects. It is commonly performed between 10 and 12 weeks of pregnancy. <br /> The advantage of CVS over other procedures is that the result is available approx 6 weeks earlier in the pregnancy, so if a termination is needed, it can be done earlier which is much safer, rather than later in the pregnancy, which can carry more risks. &lt;ref&gt;Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., de, l.C., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Lubs, H.A., Mahoney, M.J., Pergament, E., Simpson, J.L., Carpenter, R.J., Elias, S., Ginsberg, N.A., Goldberg, J.D., Hobbins, J.C., Lynch, L., Shiono, P.H., Wapner, R.J. &amp; Zachary, J.M. 1989, &quot;The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities&quot;, New England Journal of Medicine, vol. 320, no. 10, pp. 609-617.&lt;/ref&gt;<br /> <br /> ''Reasons for getting chorionic villus sampling can include:''<br /> <br /> -History of genetic disorders in the family<br /> <br /> -Parents have already had a child with a disorder such as down syndrome or cystic fibrosis<br /> <br /> -Abnormal ultrasound result<br /> <br /> -Maternal age of 35 or older, which increases the risk of chromosomal defects such as down syndrome<br /> <br /> <br /> =Historic background=<br /> <br /> <br /> '''Brief timeline of CVS use'''<br /> <br /> *1968 - Mohr in Scandinavia introduced the concept of prenatal diagnosis using chorionic villi sampling &lt;ref&gt;&lt;pubmed&gt;5691288&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1973 - Kullander and Sandahl and Hahnemann in 1974 showed further study into chromosomal analysis from CVS &lt;ref&gt;&lt;pubmed&gt;4766093&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1975 - from the Department of Obstetrics and Gynaecology at the Tietung Hospital in Anshan, China was successful in using CVS to determine sex of fetuses for sex pre selection. &lt;ref&gt;&lt;pubmed&gt;811431&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1980 - Kazy et al. were the first to use ultrasound guidance during chorionic villi sampling. &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1981 - Niazi et al. improved methods for culturing of fibroblasts from trophoblast villi. &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1983 - Ward performed transcervical CVS with 67% success rate. In the same year, the Brombati group demonstrated and 96% success rate with obtaining villi with the aid of ultrasound guidance &lt;ref&gt;&lt;pubmed&gt;6463023&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1984 - Smidt-Jensen and Hahnemann introduced transabdominal CVS under ultrasound guidance &lt;ref&gt;&lt;pubmed&gt;4088973&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1986 - The Golbus group had a 3.8% miscarriage rate, and subsequently many other clinics started reporting a much lower rate of miscarriage at 1.7% making the procedure safe for routine use &lt;ref&gt;&lt;pubmed&gt;3717235&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> ===Jan Mohr (1921-2009)===<br /> [[Image:Jan_Mohr.jpg|thumb|200px|left|Jan Mohr]]<br /> <br /> <br /> '''1968 -- Concept of CVS introduced'''<br /> <br /> In 1968 Jan Mohr introduced the concept of prenatal diagnosis using the CVS technique. &lt;ref&gt;&lt;pubmed&gt;5691288&lt;/pubmed&gt;&lt;/ref&gt; He used the transcervical method to get a biopsy of the chorion using an endoscope as the source of vision. The current technique differs by using mostly transabdominal access with ultrasound instead of an endoscope. He reported a 96% success rate in obtaining chorionic material but with a high incidence of bleeding and infection. The approach was abandoned as amniocentesis became more popular due to higher safety levels<br /> <br /> <br /> <br /> '''1973-1975 -- Further study into chromosomal analysis from CVS'''<br /> <br /> Kullander and Sandahl in 1973 and Hahnemann in 1974 further researched fetal chromosome analysis using transcervical biopsy before termination in early pregnancies. &lt;ref&gt;&lt;pubmed&gt;4766093&lt;/pubmed&gt;&lt;/ref&gt; In 1975 the first successful diagnostic use of chorionic villi was reported at the Tietung Hospital in China. &lt;ref&gt;&lt;pubmed&gt;811431&lt;/pubmed&gt;&lt;/ref&gt; This is where fetal sex was diagnosed for the purpose of sex pre-selection. They claimed to have 94% diagnosis success and only 4% miscarriage rate. Researchers in the United States were, however unable to duplicate the results and so the idea of CVS diagnosis was again abandoned for some time.<br /> <br /> <br /> '''1980-1983 -- Change from endoscopic examination to ultrasound to guide CVS'''<br /> <br /> With the invention of the ultrasound and advancement in molecular genetics, an earlier prenatal diagnosis was now sought after. So Kazy et al. in 1980, began using both the endoscope and the ultrasound for fetal sexing on chorion biopsies. This was the first report of using ultrasound guidance during chorion sampling. After Kazy et.al. began using the ultrasound for guidance, many others followed. Niazi et al., Ward and the Brombati group all started using ultrasound guided CVS. Techniques quickly improved and success rate of obtaining chorionic material rose from 75% to 96% &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> '''1984-1986 -- The introduction of transabdominal CVS'''<br /> <br /> In 1984, Smidt-Jensen and Hahnemann in Copenhagen introduced transabdominal CVS using ultrasound guidance. &lt;ref&gt;&lt;pubmed&gt;6463023&lt;/pubmed&gt;&lt;/ref&gt; With less chance of infective complications the procedure has become more popular than the transcervical method in many prenatal diagnostic centers. Other ultrasonic techniques and modifications were explored by the Brambati and Simoni group and the Golbus group in 1985. &lt;ref&gt;&lt;pubmed&gt;4088973&lt;/pubmed&gt;&lt;/ref&gt; The Golbus group reported in 1986 a miscarriage rate of 3.8%. &lt;ref&gt;&lt;pubmed&gt;3717235&lt;/pubmed&gt;&lt;/ref&gt; Subsequently, many other centres reported a much lower miscarriage rate of 1.5% which made the procedure safe for routine use.<br /> <br /> ==Table Comparing Prenatal Diagnosis Techniques==<br /> <br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ This table shows invasiveness and timeframe for some prenatal diagnostic techniques<br /> ! Invasiveness !! Diagnostic technique !! Comments !! Time that procedure can be performed !! Diagram<br /> |-<br /> |Non Invasive<br /> |[[2010_Group_Project_1|Ultrasound]]<br /> |'''Tests for:''' neural tube defects, chromosomal abnormalities and congenital heart abnormalities<br /> <br /> '''Risks:''' No risks currently indicated for ultrasound use in prenatal diagnosis. <br /> <br /> This test uses high frequency sound waves through a transmitting device, which construct a picture of the fetus when the waves are reflected and received back by the transmitter. Due to no known risks, ultrasound use is used routinely in pregnancies and is the first port of call for prenatal diagnosis. If a potential abnormality is found or the parents are high risk, then a more invasive diagnostic technique may be recommended. The type of diagnostic technique used depends on the potential abnormality found. &lt;ref&gt;Kremkali, F.W. (2006) Diagnostic Ultrasound Principles and Instruments (7th ed.) St Louis: Saunders Elsevier. pp3-5&lt;/ref&gt;[[2010_Group_Project_1|More about Ultrasound]]<br /> |Weeks 18-20<br /> |[[File:ZConvex_Array_Transducer.jpg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> |'''Tests for:''' chromosomal abnormalities and genetic abnormalities <br /> <br /> '''Risks:''' Miscarriage (1%), some of the side effects include dizziness, abdominal discomfort, cramping, haemorrhage, infection, ruptured amniotic sac, increased risk of limb defects if the test was performed at nine weeks’ gestation or earlier &lt;ref&gt;Alfirevic, Z., K. Sundberg, et al. 2008. &quot;Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review).&quot; Cochrane Database of Systematic Reviews 4: 1-134.&lt;/ref&gt;<br /> <br /> With the guidance of Ultrasound, a needle is inserted in to the abdomen or through the cervix and a small sample of chorionic villi from the placenta are obtained. This sample is sent to a cytogenetics laboratory where the cells are cultured and stained, and photographed to view chromosomes <br /> |Weeks 10-12<br /> |[[File:Transabdominal_CVS.jpg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_3|Amniocentesis ]] <br /> |'''Tests for:''' chromosomal abnormalities, fetal infections, and genetic abnormalities<br /> <br /> '''Risks:''' Miscarriage &lt;1%, stillbirths 3%, and small risk of infection. &lt;ref&gt;&lt;pubmed&gt;PMC2464303&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> A needle is inserted in to the uterus where a sample of the amniotic fluid surrounding the fetus is taken. This procedure is usually done with the guidance of ultrasound so the physician can see where the needle is being inserted. The amniotic fluid is analysed for abnormalities. [[2010_Group_Project_3|More about Amniocentesis ]]<br /> |Weeks 15-16<br /> |[[File:Process_of_amniocentesis.jpeg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_4|Percutaneous Umbilical Cord Blood Sampling]]<br /> |'''Tests for:'''chromosomal abnormalities, blood disorders, some metabolic disorders, fetal infections, and some causes of structural problems.<br /> <br /> '''Risks:'''Miscarriage &lt;2%, Preterm labour, fetal bradycardia, bleeding of the umbilical cord. &lt;ref&gt;&lt;pubmed&gt;16530195&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> A small needle is inserted in to the abdomen of the mother and a sample of blood is taken from the umbilical vein in the umbilical cord. This technique is often used when other diagnostic techniques are inconclusive, but should be used with caution as carries higher risk rates. The benefit of Percutaneous Umbilical Cord Blood Sampling is that the results are available much faster, within 72 hours of testing. CVS and amniocentesis tests need culturing and therefore take up to 11 days for a result. [[2010_Group_Project_4|More about Percutaneous Umbilical Cord Blood Sampling]]<br /> |Weeks 18-22<br /> |[[File:Placenta_Anterior.jpg|right|150 px]]<br /> |-<br /> |Less Invasive<br /> |[[2010_Group_Project_5|Fetal Fibronectin]]<br /> |'''Tests for:'''determines the likelihood of premature birth in women of high risk<br /> <br /> '''Risks:'''No known risks for the testing of Fetal Fibronectin, as is it less invasive than other techniques.<br /> <br /> Fetal Fibronectin is only found in the uterus until the onset of labour when is secretes in through the cervix. In this procedure, a sample of the cervico-vaginal secretions are taken and sent to the lab for testing. If the test comes out positive for Fetal Fibronectin in the vagina, the mother has a chance of going into premature labour. [[2010_Group_Project_5|More about Fetal Fibronectin]]<br /> |Weeks 24-34<br /> |[[File:FetalFN.jpg|right|150 px]]<br /> |-<br /> |Non Invasive<br /> |[[2010_Group_Project_6|Maternal serum alpha-fetoprotein]]<br /> |'''Tests for:'''AFP is a type of screening test and do not diagnose problems, but signal whether further testing is needed. Normal AFP levels are increased in Neural Tube Defects and Omphalocoele &amp; decreased in Down Syndrome.<br /> <br /> '''Risks:'''No known risks as Maternal serum alpha-fetoprotein is non invasive<br /> <br /> A blood sample is taken from the mother and alpha-fetoprotein levels are measured in the lab. These measurements can determine the risk level of certain abnormalities in the fetus. The advantage is that it is non invasive, but the disadvantage is that it has a very high false positive rate, so many mothers have gone on to have amniocentesis or chorionic villus sampling to find nothing is wrong with the baby. This can be overcome by having another alpha-fetoprotein test before getting amniocentesis or chorionic villus sampling. [[2010_Group_Project_6|More about Maternal serum alpha-fetoprotein]]<br /> |Weeks 15-20<br /> |[[File:Enzyme_immunoassay.jpg|right|150 px]]<br /> |-<br /> |}<br /> <br /> =Description of technique=<br /> <br /> [[File:transabdominal_CVS.jpg|right|thumb|280px|Transabdominal Technique]]<br /> [[File:transcervicalCVS.jpg|right|thumb|280px|Transcervical Technique]]<br /> <br /> CVS can be performed in two ways, through the cervix (transcervical) or through the abdomen (transabdominal). Both techniques are equally safe when performed by an experienced technician, however miscarriage rates are somewhat higher when done through the cervix. Prior to the procedure, an abdominal ultrasound can be performed to locate the position of the uterus, and the placenta. A full bladder is not required. Depending on the type of method performed, the vulva, vagina, cervix or abdomen are cleaned with antiseptic. The procedure normally takes only 1-2 minutes to perform and the patient is able to leave the clinic within the hour after the fetus is checked.&lt;ref&gt;Melbourne Ultrasound for Women. Chorionic Villus Sampling. Accessed 5 September 2010. http://www.nevdgp.org.au/info/melb_us/cvs_melb.htm&lt;/ref&gt; <br /> <br /> <br /> <br /> ===Transabdominal Procedure===<br /> <br /> # A local anaesthetic is first applied to the abdomen.&lt;br&gt;<br /> # A thin hollow needle is then inserted through the abdomen into the uterus and into the edge of the placenta where the chorion is located. An ultrasound transducer is commonly used to guide the needle during the procedure. &lt;br&gt;<br /> # A finer syringe needle is then passed through the outer needle, and the tissue is then drawn.&lt;br&gt;<br /> # The sample is taken to the laboratory for testing. <br /> <br /> ===Transcervical Procedure===<br /> # A speculum is inserted in the vagina and the area is cleaned with antiseptic.&lt;br&gt;<br /> # With the help of ultrasound imaging, a thin cannula is then inserted through the cervix and uterus and into the placenta.&lt;br&gt;<br /> #The tissue sample is then taken up through the cannula.&lt;br&gt;<br /> &lt;ref&gt;&lt;pubmed&gt;20154617&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> After the sample is taken to the laboratory, the cells are grown until there are enough cells for chromosome testing. The results normally take up to 2 weeks to complete.<br /> <br /> ===Complications===<br /> <br /> Some of the side effects and complications after a CVS procedure can include:<br /> <br /> * Dizziness <br /> * Abdominal discomfort<br /> * Cramping<br /> * Haemorrhage<br /> * Infection<br /> * Ruptured amniotic sac<br /> * Increased risk of limb defects if the test was performed at nine weeks’ gestation or earlier<br /> * Premature delivery<br /> &lt;ref&gt;Alfirevic, Z., K. Sundberg, et al. 2008. &quot;Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review).&quot; Cochrane Database of Systematic Reviews 4: 1-134.&lt;/ref&gt;<br /> <br /> Additional complications can involve technical errors such as failure of the specimen to grow sufficiently in the laboratory and uncertain laboratory results. If this occurs, amniocentesis is still an option after 15 weeks.<br /> <br /> ===Results and Accuracy===<br /> <br /> The accuracy of CVS to detect chromosome abnormalities is quite high, at around 98-99% &lt;ref&gt;Hall, Judith G. &quot;Chromosomal Clinical Abnormalities.&quot; In Nelson Textbook of Pediatrics. Edited by Richard E. Behrman et al. Philadelphia: Saunders, 2004.&lt;/ref&gt;. Although it has a high accuracy rate to diagnose most major chromosomal problems, CVS does have some limitations. Having a negative result for an abnormality does not rule out ALL genetic defects the baby may have. Comparatively to amniocentesis, CVS does NOT detect neural tube defects such as spina bifida, or anencephaly. <br /> The type of chromosome abnormalities detected by CVS will be further discussed in detail below.<br /> <br /> ===Limitations===<br /> [[file:Double_tetrasomy_18_mosaicism.jpg‎|thumb|250 px|Example of a child with double tetrasomy 18+ mosaicism.]]<br /> <br /> '''Maternal contamination'''<br /> <br /> Since the villus sample also involves maternal cells, there is a possibility that they may take over the laboratory culture instead, consequently leading to the mother's cells being tested instead of the fetus's cells. The risk of this happening is low however and is decreased when the sample contains an adequate amount of fetal cells.<br /> <br /> <br /> '''Mosaicism'''<br /> <br /> &quot;Mosaicism&quot; occurs when both abnormal and normal cells are found in the chorionic villi. Mosaicism can involve both the fetus (true fetal mosaicism) and the placental tissues or the placental tissues alone. When this happens, cells that multiply from these abnormal cells may develop a chromosome anomaly.<br /> What can result is that in certain body organs the fetus has a combination of cells that are abnormal and normal in genetic structure. <br /> The rate of the placental type occuring is found in 1-2% of pregnancies detected by CVS.&lt;ref&gt;&lt;pubmed&gt;9316125&lt;/pubmed&gt;&lt;/ref&gt; When mosaicism is detected by CVS, the limitation lies in the inability to conclude that the baby itself and not just the placental tissues will share the mosaicism. Even if the baby is affected, it will be unclear as to what percentage of the fetal cells and the type of organs that will be affected.&lt;ref&gt;Trofatter. K.F. 2008. Chromosomal Mosaicism Detected at the Time of Chorionic Villus Sampling. Accessed on 15 September 2010. http://www.healthline.com/blogs/pregnancy_childbirth/2008/03/chromosomal-mosaicism-detected-at-time.html&lt;/ref&gt;<br /> <br /> =Risks=<br /> <br /> <br /> When Chorionic Villus Sampling is performed, a small sample of the placenta is removed for analysis. The placenta contains fetal material, therefore can reveal genetic defects which may lead to problems or abnormalities. &lt;ref&gt;&lt;pubmed&gt;20664398&lt;/pubmed&gt;&lt;/ref&gt; This prenatal test can be performed as early as 11 weeks into the pregnancy, this is earlier than many prenatal diagnosis tests, which is why many parents choose CVS as they can have solid information earlier in the pregnancy. Some common risks which are not under current research include: Cramping, light blood spotting, pain, fever and chills, leakage (which can be a major concern as it can lower amniotic fluid to a dangerous level for the infant), and potential for missing fingers and toes in the newborn. For this reason, the procedure is only recommended for women who are at least 11 weeks pregnant. &lt;ref&gt;&lt;pubmed&gt;20051662&lt;/pubmed&gt;&lt;/ref&gt; The other major risks that are currently being researched are outlined below<br /> <br /> ====Transabdominal vs Transcervical CVS. Comparison of risks====<br /> <br /> <br /> [[File:CVS_Table.jpg|left|thumb|280px|Transabdominal vs Transcervical risks]]<br /> <br /> This table shows the symptoms of women approximately 3 days after sampling. The table shows women who had undergone transcervical sampling had higher frequencies of fluid leakage, vaginal spotting, and bleeding. When a tenaculum is not used, the frequency of vaginal spotting and bleeding persisted in the transcervical-sampling group. Only two women, both in the transcervical-sampling group, had a temperature above 38°C. &lt;ref&gt;Jackson, L.G., Zachary, J.M., Fowler, S.E., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Mahoney, M.J., Pergament, E., Simpson, J.L., Black, S. &amp; Wapner, R.J. 1992, &quot;A Randomized Comparison of Transcervical and Transabdominal Chorionic-Villus Sampling&quot;, New England Journal of Medicine, vol. 327, no. 9, pp. 594-598.&lt;/ref&gt;<br /> <br /> <br /> ====Miscarriage====<br /> <br /> One of the biggest risks of Chorionic Villus Sampling is miscarriage. In one to 100 or 200 cases, the procedure is linked with miscarriage. &lt;ref&gt;&lt;pubmed&gt;19155918&lt;/pubmed&gt;&lt;/ref&gt; In an experienced clinic, this rate may go down to one in 300 to 400. To lower the risk of miscarriage with Chorionic Villus Sampling, it is recommended the procedure be performed by an experienced clinician<br /> <br /> <br /> ====Oligohydramnios====<br /> <br /> Oligohydramnios is a condition due to low amniotic fluid level, which is caused by amniotic fluid leakage. Amniotic fluid leakage is typically caused by fetal urinary tract abnormalities such as Potter's syndrome, polycystic kidneys, or genitourinary obstruction. But leakage can sometimes be caused by sampling of the chorionic villi due to insertion of the needle. If the resulting oligohydramnios is not treated and the amniotic fluid continues to leak it can result in the baby developing hypoplastic lungs (underdeveloped lungs). &lt;ref&gt;&lt;pubmed&gt;17694578&lt;/pubmed&gt;&lt;/ref&gt;&lt;br&gt;&lt;br&gt;<br /> <br /> <br /> '''Why would you use CVS over other techniques?'''<br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ Advantages and Disadvantages of Chorionic Villus Sampling<br /> ! Advantages !! Disadvantages <br /> |-<br /> |Can be performed earlier in pregnancy than amniocentesis (at around ten weeks).<br /> <br /> Results are available faster<br /> <br /> Cells obtained are mitotically active<br /> <br /> Amount of tissue obtained is preferable for DNA analysis.<br /> <br /> It is almost 100% reliable in detecting chromosomal and genetic defects.<br /> |It carries a slightly higher risk of miscarriage (1%-2%) than does amniocentesis<br /> <br /> It's less commonly available than amniocentesis, and fewer doctors are experienced in the procedure.<br /> <br /> It entails a greater risk of distorted results than does amniocentesis due to presence of mother's cells in the sample and discrepancies between chorionic villi and fetal genes.<br /> <br /> Metabolic disorders are difficult to diagnose and must be confirmed with amniocentesis.<br /> <br /> Because of the early gestational age at which the test is performed, fetal anatomy cannot be seen as well as it can at the time amniocentesis is performed.<br /> |-<br /> |}<br /> &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt;<br /> <br /> =Abnormalities found by CVS prenatal diagnostic technique=<br /> <br /> [[File:Down-normal.gif|right|thumb|280px|Normal]]<br /> <br /> [[File:Down-extra.gif|right|thumb|280px|third copy of chromosome 21]]<br /> <br /> The cells collected by CVS are sent to a cytogenetics laboratory. There the cells are cultured (stimulated to grow and divide) for 10-14 days. After enough cells are obtained, a banded karyotype is performed. This means that the fetal chromosomes in the cultured cells are stained and subsequently photographed. The photographed chromosomes are then ordered by number, counted and checked for structural abnormalities. There should be 46 chromosomes, 23 pairs. A boy's karyotype is described as 46,XY and a girl's karyotype is described as 46,XX.&lt;ref&gt;Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., de, l.C., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Lubs, H.A., Mahoney, M.J., Pergament, E., Simpson, J.L., Carpenter, R.J., Elias, S., Ginsberg, N.A., Goldberg, J.D., Hobbins, J.C., Lynch, L., Shiono, P.H., Wapner, R.J. &amp; Zachary, J.M. 1989, &quot;The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities&quot;, New England Journal of Medicine, vol. 320, no. 10, pp. 609-617. &lt;/ref&gt;<br /> <br /> <br /> <br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ This table shows what disorders CVS detects, the cause, frequency and any comments<br /> ! Disorder !! Cause !! Comments !! Frequency !! Picture <br /> |-<br /> |[[ Trisomy 21 | Down Syndrome ]]<br /> |A third copy of chromosome 21<br /> <br /> Normally, there are only two copies of this chromosome<br /> |The average IQ of children with Down syndrome is around 50, compared to normal children with an IQ of 100. Complications for people with down syndrome include: congenital heart defects, gastroesophageal reflux disease, recurrent ear infections, obstructive sleep apnea, and thyroid dysfunctions. &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt; The picture shows a newborn infant with Down Syndrome (Trisome 21)<br /> |Approximately 1 in 1,000 births &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt;<br /> |[[File:Trisomy_21_newborn.jpg|right|200 px]]<br /> |-<br /> |[[ Trisomy 13 | Trisomy 13 ]]<br /> |A third copy of chromosome 13<br /> <br /> Normally, there are only two copies of this chromosome<br /> |Also called Patau syndrome. This abnormality causes mental and motor abnormalities, polydactyly (extra digits), kidney defects, abnormal genitalia and heart defects, among many others. &lt;ref&gt;Driscoll, D.A. &amp; Gross, S. 2009, &quot;Prenatal Screening for Aneuploidy&quot;, New England Journal of Medicine, vol. 360, no. 24, pp. 2556-2562. &lt;/ref&gt; The picture shows an infant with polydactyly, a potential complication of Trisome 13<br /> |Less than 1% <br /> |[[File:220px-Patauhand.PNG|right|200 px]]<br /> |-<br /> |[[ Trisomy 18 | Trisomy 18 ]]<br /> |A third copy of chromosome 18<br /> <br /> Normally, there are only two copies of this chromosome<br /> |Also known as Edwards syndrome. It has a very low survival rate, due to: kidney and heart defects, intestines protruding outside the body, mental abnormalities, growth disorders, feeding and breathing difficulties. &lt;ref&gt;Driscoll, D.A. &amp; Gross, S. 2009, &quot;Prenatal Screening for Aneuploidy&quot;, New England Journal of Medicine, vol. 360, no. 24, pp. 2556-2562. &lt;/ref&gt; The picture shows a clenched hand and overlapping fingers: index finger overlaps third finger and fifth finger overlaps fourth finger, characteristically seen in Trisomy 18.<br /> |1 in 3,000 conceptions and approximately 1 in 6,000 live births <br /> |[[File:200px-Overlapping_fingers.JPG|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Cystic_fibrosis Cystic Fibrosis]<br /> |A mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR) in chromosome 7.<br /> |An autosomal recessive disease that causes excessive sticky mucous to form on mucosal surfaces effecting the digestive and respiratory organs. &lt;ref&gt;Levison, J.H., Barbieri, R.L., Katz, J.T. &amp; Loscalzo, J. 2010, &quot;Hard to Conceive&quot;, New England Journal of Medicine, vol. 363, no. 10, pp. 965-970. &lt;/ref&gt; The picture shows clubbing of the fingers in a person with cystic fibrosis<br /> |Approx 1 in 3,000 <br /> |[[File:220px-ClubbingCF.JPG|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Hemoglobinopathy Hemoglobinopathy]<br /> |Structural abnormalities in the globin proteins <br /> |Multiple types of abnormal haemoglobins exist including Haemoglobin S, C E and D that alter the structure of these proteins. A common defect is sickle cell disease.&lt;ref&gt;Abboud, M.R. 2009, &quot;Hematopoietic Stem-Cell Transplantation for Adults with Sickle Cell Disease&quot;, New England Journal of Medicine, vol. 361, no. 24, pp. 2380-2381. &lt;/ref&gt;<br /> |Hemoglobinopathies are a genetic defect and therefore an inherited disorder, frequency depends on which particular hemoglobinopathy is being discussed, eg. in the case of Sickle cell disease, it is estimated that 7% of worlds population are carriers<br /> |[[File:Series_10-09.jpg|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease Tay Sachs Disease]<br /> |mutations on chromosome 15 in the HEXA gene <br /> |It is a rare autosomal recessive defect inherited from parents that are carriers for the disease. Affected individuals suffer from premature nerve cells death in the brain. &lt;ref&gt;&lt;pubmed&gt;20100466&lt;/pubmed&gt;&lt;/ref&gt;<br /> |Approx 1 in 300 are carriers<br /> |[[File:220px-Autorecessive.svg.png|right|200 px]]<br /> |-<br /> |}<br /> <br /> =Outcomes=<br /> <br /> =Ethical concerns=<br /> <br /> =Current associated research=<br /> <br /> Chorionic Villus Sampling (CVS) is one of many prenatal diagnostic tools for expectant mothers, it is popular since it can be used to identify potential problems with a fetus at a very early stage. However, the procedure does carry some risks, as does any invasive diagnostic procedure. As chorionic villus sampling is a relatively new technique, made available for safe routine use only 20 years ago, the current associated research is mainly associated with risks associated with the procedure, and ways to overcome these risks. The next section in this page will discuss the current research on CVS and the risks involved in the procedure, and not what the test results may find. <br /> <br /> ====Hypertensive disorders of pregnancy====<br /> <br /> Hypertension, or high blood pressure, is a condition where systemic arterial blood presssure is elevated. Hypertension is one of the most common medical problem during pregnancy, affecting about 2-3% of pregnancies.&lt;ref&gt;Gibson, P., Carson, M.P, 2010. Hypertension and Pregnancy. Accessed 29 September, 2010. &lt;http://emedicine.medscape.com/article/261435-overview&gt;&lt;/ref&gt;<br /> Pregnancy induced hypertension is a condition that can occur during and after the 20th week of pregnancy. The types of hypertensive disorders can include:<br /> <br /> [[File:Enamel_Hypoplasia_Due_to_Maternal_Toxemia.jpg|thumb|200px|right|Enamel hypoplasia due to maternal toxemia]]<br /> <br /> *Pre-eclampsia or toxemia – Characterised as high blood pressure above 140/90 with proteinuria (protein in the urine that is above 300mg)<br /> * Eclampsia - Developed in a pregnant woman who has had pre-eclampsia and is characterised by seizures <br /> * Gestational hypertension – arterial hypertension that occurs after the 20th week of gestation <br /> <br /> If untreated, the condition may develop into HELLP syndrome which is a serious complication noted by hemolytic aneamia, elevated liver enzymes and a low platelet count. <br /> <br /> <br /> There has been conflicting evidence in literature that suggests that CVS is associated with hypertensive disorders in pregnancy such as pre-clampsia and gestational hypertension. In several studies, such as data from the National Institute of Health that compared late CVS procedures with early amniocentesis, showed a higher rite of gestational hypertension and preeclampsia in pregnant mothers.&lt;ref&gt;&lt;pubmed&gt;15738029&lt;/pubmed&gt;&lt;/ref&gt; (5.4% for mothers who had CVS and 3.5% that had amniocentesis.) It was hypothesized that disruption and disturbance of the placenta at 13-14 weeks may increase the risk of maternal hypertension. In addition, another recent study in 2006 also reported that there was an increase in the rate of pre-clampsia in first-time expectant mothers who have had CVS.&lt;ref&gt;&lt;pubmed&gt;19455602&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> However, in a very recent data investigation of among 9098 women that were pregnant between 1990 and 2006, the overall incidence of hypertensive disorders with women who have had CVS was 2.7% compared to the control group that did not have the procedure done which was 7.1%.&lt;ref&gt;&lt;pubmed&gt;19918960&lt;/pubmed&gt;&lt;/ref&gt; Similarly, in a study conducted by The American College of Obstetricians and Gynecologists,&lt;ref&gt;&lt;pubmed&gt;20664398&lt;/pubmed&gt;&lt;/ref&gt; 31, 138 women were that were included in the investigation showed that 2.2% developed preeclampsia and 2.8% developed gestation hypertension. Only 7.8% of those individuals had previously had CVS procedure performed. <br /> <br /> Although it can be said that some woman may develop hypertensive disorders during pregnancy that have also had the CVS procedure done in the past, there is no conclusive evidence so far that definitively associates CVS with hypertensive disorders such as pre-clampsia and gestation hypertension.<br /> <br /> ====Malformations====<br /> [[File:Craniosynostosis_.jpg|right|250 px]]<br /> <br /> <br /> Many malformations were thought to be a result of more invasive prenatal diagnostic techniques such as chorionic villus sampling. These malformations include, but are not limited to, cardiac malformations, hypospadias, craniosynostosis, pyloric stenosis, inguinal hernia, polydactyly, syndactyly, hydrocephalus and cleft lip and palate. Although these studies have now confirmed no known relationship with CVS, we will mention some below. &lt;ref&gt;&lt;pubmed&gt;7937577&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> '''Craniosynostosis''' is a condition where one of the sutures of the skull prematurely fuses, this causes the other sutures to compensate in growth for the fused suture. In normal development of the skull, the sutures allow for brain growth, so if one suture fuses prematurely, the brain can not grow normally, and the other sutures over expand in compensation. In the shown image, pictures a1 and a2 show the normal development and fusing of the infant skull. b2 shows how a suture is prematurely fused and b1 shows how the abnormality shows in an infant child.<br /> Craniosyntosis may result in increased pressure on the brain and developmental delays. Treatment of craniosynostosis usually consists of surgery to the skull where a zigzag incision is made to make the hair look more natural than the scar left by a straight incision. The surgery separates the sutures that have joined together to allow the head to develop normally.<br /> <br /> &lt;ref&gt;Silver, R.K., Macgregor, S.N., Muhlbach, L.H., Knutel, T.A. &amp; Kambich, M.P. 1994, &quot;Congenital malformations subsequent to chorionic villus sampling: Outcome analysis of 1048 consecutive procedures&quot;, Prenatal diagnosis, vol. 14, no. 6, pp. 421-427. &lt;/ref&gt;<br /> <br /> [[File:Polydactyly.jpg|left|200 px]]<br /> '''Polydactyly''' is a congenital condition where an extra digit is formed. Mostly it occurs on only one hand or foot, but sometimes can occur on all limbs. The extra digit is mostly a small non-function appendage of skin, less often it is an extension of the adjacent digit, and rarely it is a fully functioning finger that arises from the wrist or ankle joint like the other digits. Polydactyly can be described as: <br /> <br /> ● postaxial polydactyly (arising from the little finger)<br /> <br /> ● preaxial polydactyly (arising from the thumb) or<br /> <br /> ● central polydactyly (arising from anywhere between the other digits)<br /> <br /> Polydactyly is seen in 1 in every 500 births, but the extra digit is usually surgically removed shortly after birth<br /> &lt;ref&gt;&lt;pubmed&gt;20661588&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> [[File:Syndactyly2.JPG|left|200 px]]<br /> '''Syndactyly''' is also a congenital condition, but is seen when digits are fused together. Syndactyly can be described as:<br /> <br /> ● simple syndactyly (where only skin is fused to the adjacent finger)<br /> <br /> ● complex syndactyly (where the bone is fused together)<br /> <br /> ● incomplete syndactyly (where fusion is only part of the way up the digit), and,<br /> <br /> ● complete syndactyly (where fusion is to the tip of the digit)<br /> <br /> The picture on the left shows an example of polysyndactyly, where the digits are both fused, and there is an extra digit.<br /> &lt;ref&gt;&lt;pubmed&gt;20811188&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> <br /> <br /> <br /> <br /> ====Hemangiomas====<br /> <br /> [[File:Capillary_haemangioma.jpg|thumb|200px|right|Hemangioma]]<br /> <br /> A hemangioma is a benign tumour growth of endothelial cells that can occur in newborns and infants. Hemangiomas can occur anywhere in the body but are often localised on the skin of the face and neck, and are characterised by a red to reddish purple raised lesion on the skin, similarly to a &quot;strawberry&quot; like appearance. Its red appearance is due to the newly formed blood vessels, which result from the malformation of angioblastic tissues of fetal life.&lt;ref&gt;&lt;pubmed&gt;7063565&lt;/pubmed&gt;&lt;/ref&gt; <br /> Most hemangiomas do not cause any serious complications, and regress later on in life, where 90% of hemangiomas in children would disappear by the age of 9. <br /> <br /> Recently, research has linked the increase in the incidence of hemangiomas in infants following CVS. It has been postulated that the mechanism of hemangioma formation is associated with the embolisation of angioblasts or endothelial cells from the placenta to the fetal skin.&lt;ref&gt;&lt;pubmed&gt;19218861&lt;/pubmed&gt;&lt;/ref&gt; Although this may link hemangiomas to placental origin, it is unclear how, or whether CVS directly interferes or enhances the formation of these lesions. However, a recent study that compared the effects of CVS and amniocentesis on the prevalence of hemangiomas in infants showed that 27% of the study group had hemangiomas with CVS compared to 9.4% in children with hemangiomas and amniocentesis. &lt;ref&gt;&lt;pubmed&gt;20824891&lt;/pubmed&gt;&lt;/ref&gt; Furthermore, in an previous study conducted in 1995, there was a threefold increase in incidence after trancervical procedure was done, compared to amniocentesis.&lt;ref&gt;Lo, K., Mihm, M. &amp; Fay, A. 2009, &quot;Current Theories on the Pathogenesis of Infantile Hemangioma&quot;, Seminars in ophthalmology, vol. 24, no. 3, pp. 172-177. &lt;/ref&gt;&lt;ref&gt;&lt;pubmed&gt;7784377&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> =Future of Chorionic Villus Sampling=<br /> <br /> =Useful links=<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Wikipedia'''[http://en.wikipedia.org/wiki/Chorionic_villus_sampling Chorionic villus sampling]<br /> <br /> '''Fact sheets''' [http://www.thewomens.org.au/ChorionicVillusSamplingCVS Chorionic villus sampling]<br /> <br /> '''Images''' [http://www.google.com.au/images?q=chorionic+villus+sampling&amp;oe=utf-8&amp;rls=org.mozilla:en-US:official&amp;client=firefox-a&amp;um=1&amp;ie=UTF-8&amp;source=univ&amp;ei=yCWcTKT-NsircY-nzNEJ&amp;sa=X&amp;oi=image_result_group&amp;ct=title&amp;resnum=4&amp;ved=0CD4QsAQwAw&amp;biw=1280&amp;bih=615 Chorionic villus sampling]<br /> <br /> '''You tube video of procedure''' [http://www.youtube.com/watch?v=0XUZsvTkEnw Chorionic villus sampling]<br /> <br /> =Glossary=<br /> <br /> '''Amniocentesis''' - A prenatal diagnostic test involving sampling of amniotic fluid by needle aspiration for genetic analysis.<br /> <br /> '''Amnion''' - An extraembryonic membrane ectoderm and extraembryonic mesoderm in origin and forms the innermost fetal membrane, produces amniotic fluid. This fluid-filled sac initially lies above the trilaminar embryo disc and with embryoic disc folding this sac is drawn ventrally to enclose (cover) the entire embryo, then fetus.<br /> <br /> '''Amniotic cavity''' - The fluid-filled (amniotic fluid) extraembryonic coelom (cavity) formed initially by epiblast and then ectoderm and surrounding extraembryonic mesoderm. In humans, it forms the innermost fetal membrane, produces amniotic fluid expanding to fuse with the chorionic membrane during week 8 of development.<br /> <br /> '''Amniotic fluid''' - The fluid that fills amniotic cavity totally encloses and cushions the embryo.<br /> <br /> '''Cannula''' - A flexible medical tube with a sharp-pointed part at one end that is inserted into a duct, vein, or cavity in order to drain away fluid or to administer drugs<br /> <br /> '''Chorion''' - The extraembryonic membrane generated from trophoblast and extraembryonic mesoderm that forms placenta. chorion and amnion are made by the somatopleure. The chorion becomes incorporated into placental development. The avian and reptilian chorion lies beside the egg shell and allows gas exchange.<br /> <br /> '''Chorionic villus sampling (CVS)''' - The taking a biopsy of the placenta, usually at the end of the second month of pregnancy, to test the fetus for genetic abnormalities.<br /> <br /> '''Chromosome''' - double stranded DNA coiled around histones. Condenses during mitosis and meiosis.<br /> <br /> '''Ectoderm''' - One of the initial 3 germ cell layers, which will form the nervous system from the neural tube and neural crest and also generates the entire epithelial layer of the skin covering the embryo.<br /> <br /> '''Endoscope''' - a long slender medical instrument for examining the interior of a bodily organ or performing minor surgery<br /> <br /> '''Endoderm''' - One of the initial 3 germ cell layers (ectoderm, mesoderm and endoderm) formed by the process of gastrulation. The endoderm forms as a cuboidal epithelium and contributes not only to the trilaminar embryo, but also lines the yolk sac. It will form the entire epithelial lining of the gastrointestinal tract (GIT), contribute to the accessory organs of GIT and also forms the epithelial lining of the respiratory tract.<br /> <br /> '''Fetus''' - In mammals, term describes the period of development following the embryonic period. In humans, the development week 9 to 36 is the fetal stage (second and third trimester). (see fetal period above). This term is also used non-scientifically to describe the human conceptus at both embryonic and fetal stages of development.<br /> <br /> '''Gene''' - A DNA sequence that is transcribed as a single unit and encodes a single polypeptide (protein) or a set of closely related polypeptides. There are approximately 20,000-25,000 protein encoding genes in the human genome. In each cell, DNA is found within the nucleus and also within mitochondria.<br /> <br /> '''Gestation''' - The period of time from conception to birth. A pregnancy with multiple fetuses is referred to as a multiple gestation.<br /> <br /> '''Mesoderm''' - The middle layer of the 3 germ cell layers of the trilaminar embryo.<br /> <br /> '''Miscarriage''' - A general clinical term for the loss of embryo or fetus by spontaneous abortion.<br /> <br /> '''Mitosis''' - The normal division of all cells, except germ cells, where chromosome number is maintained (diploid). <br /> <br /> '''Prenatal diagnosis''' - any of the diagnostic procedures used to determine whether a fetus has a genetic abnormality<br /> <br /> '''Tenaculum''' - instrument used to grasp the cervix and keep the uterus in place during gynecological procedures.<br /> <br /> '''Termination''' - The spontaneous or artificially induced expulsion of an embryo or fetus. As used in legal context, the term usually refers to induced abortion.<br /> <br /> '''Transabdominal''' - In the transabdominal CVS technique, the physician inserts a needle through the abdomen into the placenta. This is also done with ultrasound, to guide the physician<br /> <br /> '''Transcervical''' - In the transcervical CVS technique, the physician inserts a small tube through the cervix into the placenta. This is done while ultrasound guides the physician<br /> <br /> '''Ultrasound''' - A non-invasive technique for visualizing and prenatal diagnosis of several features of development including: follicles in the ovaries, the gestational sac, fetus in the uterus, fetal parameters, and the placenta. The technique uses high-frequency sound waves that are reflected off internal structures. These reflections can then be analysed and displayed by computer.<br /> <br /> '''Villi''' - Plural of villus, which is a thin projection from a surface. A term used to describe the many functional units together of the fetal placenta. <br /> <br /> '''Vitelline arteries and veins''' - The blood vessels which form in the extraembryonic mesoderm of the yolk sac and anastomose are called vitelline arteries (flow away from the embryo) and vitelline veins (flow toward the embryo).<br /> <br /> ==Prenatal Diagnosis Terms==<br /> <br /> '''false negative rate''' - The proportion of pregnancies that will test negative given that the congenital anomaly is present.<br /> <br /> '''false positive rate''' - The proportion of pregnancies that will test positive given that the congenital anomaly is absent.<br /> <br /> '''negative predictive value''' - The probability that a congenital anomaly is absent given that the prenatal screening test is negative.<br /> <br /> '''positive predictive value''' - The probability that a congenital anomaly is present given that the prenatal screening test is positive.<br /> <br /> '''pre-implantation genetic diagnosis''' - (PGD) a screening procedure for embryos produced through in vitro fertilisation (IVF) for genetic diseases that would generate developmental abnormalities or serious postnatal diseases.<br /> <br /> '''prenatal screening sensitivity''' - (detection rate) The probability of testing positive on a prenatal screening test if the congenital anomaly is present.<br /> <br /> '''prenatal screening specificity''' - The probability of testing negative on a prenatal screening test if the congenital anomaly is absent.<br /> <br /> <br /> ==Glossary Links==<br /> <br /> :[[A|A]] | [[B|B]] | [[C|C]] | [[D|D]] | [[E|E]] | [[F|F]] | [[G|G]] | [[H|H]] | [[I|I]] | [[J|J]] | [[K|K]] | [[L|L]] | [[M|M]] | [[N|N]] | [[O|O]] | [[P|P]] | [[Q|Q]] | [[R|R]] | [[S|S]] | [[T|T]] | [[U|U]] | [[V|V]] | [[W|W]] | [[X|X]] | [[Y|Y]] | [[Z|Z]] | [[Numbers|Numbers]]<br /> <br /> =References=<br /> &lt;references/&gt;<br /> <br /> == 2010 ANAT2341 Group Projects ==<br /> <br /> [[2010_Group_Project_1|Project 1 - Ultrasound]] | [[2010_Group_Project_2|Project 2 - Chorionic villus sampling]] | [[2010_Group_Project_3|Project 3 - Amniocentesis]] | [[2010_Group_Project_4|Group Project 4 - Percutaneous Umbilical Cord Blood Sampling]] | [[2010_Group_Project_5|Project 5 - Fetal Fibronectin]] | [[2010_Group_Project_6|Project 6 - Maternal serum alpha-fetoprotein]] | [[ANAT2341_2010_Students|Students Page]]<br /> <br /> <br /> {{Template:Footer}}<br /> [[Category:2010ANAT2341]] [[Category:Science-Undergraduate]]</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=Talk:2010_Group_Project_2&diff=38322 2010-09-26T11:07:25Z

<p>Z3265772: /* to fix */</p> <hr /> <div>Hey Jenny, do you think Mosaicism should be in the abnormalities found by CVS section? a few people have commented that its a bit confusing what the test detects and the risks associated with testing. i think Mosaicism is more under the heading of what cvs detects --[[User:Z3265772|z3265772]] 04:16, 23 September 2010 (UTC)<br /> <br /> hey jill,<br /> group 6 here, you may use our picture<br /> <br /> --[[User:Z3254433|z3254433]] 09:07, 26 September 2010 (UTC)<br /> <br /> ===to fix===<br /> <br /> '''Begin''' by collating the comments.<br /> * What are the common criticisms?<br /> * What were the best aspects identified within your project?<br /> * What errors, typos, missing references were identified?<br /> * Were there contributions from individual group members that were identified as good or poor parts of the overall project?<br /> <br /> '''Then''' work on the changes.<br /> * Develop priorities.<br /> * Divide the changes and corrections between group members.<br /> * Are there additional changes that should be made that were not identified by peer assessment.<br /> <br /> <br /> '''Jill:'''<br /> <br /> abnormalities, maybe just adjust the cells of the table a little so the spacing appears more even as some cells have very little content while others are completely filled. What about the future of CVS? Is it a procedure that is going to continue as simply diagnostic? Is it being superseded by another procedure? comparative genomics, Improvements?<br /> <br /> future role of CVS in prenatal diagnosis or even the role of invasive procedures altogether<br /> <br /> DONE move glossary above references so you dont have to scroll all the way down to read them<br /> <br /> DONE table comparing other techniques<br /> <br /> DONE got confused between the risks of this test and what it predicted (this will be clear in the above table)<br /> <br /> DONE -it didn't state that the test was invasive in intro (table)<br /> <br /> DONE -All spelling amd grammar - some more editing of spelling is required<br /> <br /> DONE &quot;abnormalities found by CVS&quot; section towards the top of the page coz I got confused between the risks of this test and what it predicted<br /> <br /> DONE -link or a reference to the brief time line where you state the names of the authors <br /> <br /> DONE -The only advice I can give is to maybe separate the difference between normal and abnormal chromosomes and the adjacent table to allow the table more room and be easily viewed <br /> <br /> DONE -I just wonder where the files came from – I saw you put up the copyright notices, but I couldn’t find the file sources <br /> <br /> DONE -a little more reference in the &quot;result and accuracy&quot; section since it includes some percentage other than that fantastic work <br /> <br /> DONE - it would be that you put the advantages/disadvantages of CVS over other techniques in a table.<br /> <br /> <br /> <br /> <br /> '''Jenny:'''<br /> <br /> flowchart or more pictures of procedure <br /> <br /> clarify what hypertension is in the hypertensive disorders of pregnancy section<br /> <br /> possibly more pictures or a flowchart of the procedure itself? <br /> <br /> outcomes + ethics,<br /> <br /> Are the transabdominal and the transcervical pictures the student-drawn ones? put up in discussion that you drew them and you give permission for re-use - Jenny, ive done this for you, all you need to do is edit and add your student number, -Jill<br /> <br /> elaborate on procedure eg what cells are being taken etc and stages of chorionic villus in embryology<br /> <br /> Spelling and grammar, - Jenny, ive gone through the page and edited the spelling mistakes i could find, could you please do the same incase ive missed any? and double check the sections you are about to write? Thanks :) - Jill --[[User:Z3265772|z3265772]] 00:33, 24 September 2010 (UTC)<br /> <br /> The current research section could be put more into point form to make it more inviting to read - not sure if you want to do this, i think its ok as it is, maybe just delete this suggestion? or add pictures of people researching? haha<br /> <br /> <br /> ----<br /> <br /> ==Peer Review==<br /> <br /> '''Please note!''' when posting your peer review, we only have two group members. the other one dropped out. Thanks :)<br /> <br /> --[[User:Z3129413]] 16:29, 22 September 2010 (UTC)<br /> I love those old timey pencil medical pictures and so for me this was really great, what instantly nailed the whole positive immediate impression was 'Reasons for getting chorionic villus sampling etc etc' right there at the beginning. Why would I get one? thanks very much. Perhaps a darker font would make it even better. Historical back ground is really good and technique pictures are of high standard. The table presentation of abnormalities found and ratios is such an effective way of portraying this information.<br /> <br /> A few Q's with the hypertension cvs topic, <br /> Is there a normally expected percent of women in a large population to develop hypertensive disorders, just for perspective? CVS would not lower incidences of such surely (9098 pop, 2.7% to 7.1% control). 138 study size seems a bit low, is result really much more significant? However I did understand that CVS was more risk prone than amniocentesis for pre eclampsia and gestational hypertension.<br /> This project is well on track.<br /> <br /> <br /> <br /> <br /> Group 2: Your project is very impressive in content as well as organisation. The most notable thing for me was the wide use of pictures which must have taken a lot of time and effort to source. They definitely create an engaging page especially in conjunction with the use of tables and clear subheadings. The structure you have used is very effective as it allows your information to be scientific and thorough but at the same time it is concise and easy to navigate. I felt like i got an extensive overview of CVS after having read your page and the use of pictures and subheadings kept it from being a chore. I felt the history and abnormalities sections were particularly interesting. I also appreciate how you have seemed to approach this topic from all angles and not just a one-sided, all current and positive viewpoint. To improve your page perhaps you could explore the future role of CVS in prenatal diagnosis or even the role of invasive procedures altogether. Either way your page is probably up to standard as it is and it is obvious that you have worked hard at it. Job well done.<br /> --[[User:Z3293029|z3293029]] 14:38, 22 September 2010 (UTC)<br /> <br /> <br /> <br /> <br /> <br /> <br /> Group 2: fantastic use of images, it definitely worked to your advantage in engaging your audience's attention. Over all the language used is relatively easy to follow yet informative. As someone has already mentioned, some more editing of spelling is required. The amount of attention to detail is evident in the references which are from a range of sources so well done. I particularly liked that the page covered accuracy and limitations of the diagnostic procedure. Something that lacked clarity in a few other groups. Good use of the table covering the abnormalities, maybe just adjust the cells of the table a little so the spacing appears more even as some cells have very little content while others are completely filled. What about the future of CVS? Is it a procedure that is going to continue as simply diagnostic? Is it being superseded by another procedure? Improvements?<br /> Just an idea. Well done overall. --z3241780 13:40, 22 September 2010 (UTC) <br /> <br /> <br /> '''GROUP 2: Chorionic Villi Sampling''' <br /> <br /> This page caught my attention as soon as I saw it and that made me want to read on and thus learn about Chorionic Villi Sampling. A lot of research has gone into this assignment and it’s evident in the information presented as its precise which also helps capture the readers. The amount of research is also evident in the long list of references. The webpage is actually extremely informative covering pretty much every aspect of the pre-natal diagnostic techniques. Your webpage has the most pictures and this helps it stand out as one of the best project pages. I really, really like the formatting and the tables. The images break up the information so you’re never overloaded with the amount of text. The only bit of criticism is spelling but this is extremely minor as you’ll pick up on the spelling mistakes when you go over the page. The language in is the right mixture of scientific language meaning that even people without a scientific background can understand the CVS. Great job guys you really can’t tell that only two people are in this group. It’s extremely good!!! I also really like the first picture you have, gives a page a really good feel to it.<br /> <br /> --[[User:Z3252635|z3252635]] 13:20, 22 September 2010 (UTC)<br /> <br /> <br /> <br /> Hi guys!<br /> <br /> You have found so many great pictures! Your page looks amazing. I just wonder where the files came from – I saw you put up the copyright notices, but I couldn’t find the file sources. Your timeline was great too; I really like how you put up the concise timeline and then expanded a bit on the major developments afterwards. Are the transabdominal and the transcervical pictures the student-drawn ones? If so, well done! They’re really clear and beautifully done, but you should probably label them as student drawn and put in the copyright statement. If I could suggest something, it would be that you put the advantages/disadvantages of CVS over other techniques in a table. Otherwise, your page is really easy to read, and again has brilliant visuals – great job!--[[User:Z3252833|z3252833]] 12:42, 22 September 2010 (UTC)<br /> <br /> <br /> CVS.<br /> <br /> Group 2, your project is looking great, the first thing i noticed when reading it is that there is lots of detail which shows a great depth of research has gone into it, which is supported by your reference list. Another thing is the amount of pictures which support the information and break it up to make it easier to take in so much information at once. The disorders table provides great detail and makes it interesting with the pictures.<br /> <br /> What could be improved: You could put the advantages/disadvantages into a table form to make it even easier to understand. The reasons to use this technique could be slotted into the procedure section instead of the introduction maybe as it shows who is eligible for the procedure. The current research section could be put more into point form to make it more inviting to read. But overall really great project.<br /> <br /> --[[User:Z3292208|z3292208]] 08:55, 22 September 2010 (UTC)<br /> <br /> <br /> This project is extremely well done. It seems a great effort has gone into proper referencing which also gives the impression of a thoughtful attempt. The balance of information mediums is great and the logical flow of ideas when reading through each section is perfect.<br /> Suggestion: possibly more pictures or a flowchart of the procedure itself? <br /> <br /> Well done :)<br /> <br /> --[[User:Z3254753|z3254753]] 16:55, 21 September 2010 (UTC)<br /> <br /> Group 2- This project had tons of photos which is super great because its much easier to follow... Most of the point made is supported with pictures ..definetly provided me a better understanding of CVS ..I agree with what others have mentioned its very informative and especially with just 2 team members .. fantastic work <br /> <br /> what could be improved = a little more reference in the &quot;result and accuracy&quot; section since it includes some percentage other than that fantastic work ..--[[User:Z3305561|Navneet Ahuja]] 12:53, 21 September 2010 (UTC)<br /> <br /> Group project 2: chorionic villus sampling <br /> <br /> This group had great images and the page layout was good too especially the tables which simplified the information and made it easier to read. The information presented was very informative, scientific, and all the key concepts were covered on the topic. The project had a very impressive reference list, and it did help in my understanding of this prenatal diagnostic technique.<br /> <br /> What could be improved?<br /> I did find a spelling mistake under the heading Results and Accuracy were you have written “maybe” instead of “baby”, so maybe proof read the assignment to pick up on any other possible spelling or grammatical errors, other than that well done.<br /> <br /> --[[User:Z3254433|z3254433]] 07:15, 20 September 2010 (UTC)<br /> <br /> This project was highly informative about CVS. It contained a lot of information in which it shows that a lot of research has gone into it. Everything has been covered like, what the test predicts and what risks are associated with this test. It was very scientific, yet easy to understand at a non-scientific level. I liked the external links how it directed me straight to a page of different articles about CVS. <br /> <br /> What could be improved is maybe placing the &quot;abnormalities found by CVS&quot; section towards the top of the page, because i was a bit unsure on what this test predicted in the first place. I got confused between the risks of this test and what it predicted. But I managed to understand it all once all read through. Also, a definition of a &quot;cannula&quot; may be helpful in the glossary too, i wasn't sure what that exactly was.<br /> <br /> --[[User:Z3291079|z3291079]] 02:48, 21 September 2010 (UTC)<br /> <br /> This project provides a clear understanding of the key information regarding CVS, such as how it is carried out, the risks and benfits of CVS, what it is used for as well as future research. I have find the pictures to be of a great help in explaining the procedure of CVS.<br /> <br /> One think I did notice was that, it didn't state that the test was invasive until you figure it out when you look at the pictures in the procedures. I think stating that in the introduction would make it clearer for readers to follow on with the information this projects provides having that knowledge in mind at the start.<br /> <br /> --[[User:Z3216889|3216889]] 12:13, 22 September 2010 (UTC)<br /> <br /> <br /> This web page is definitely one of my favorites. The information that you have provided is exceptional; the reference list is indicative of your extensive research. The table of deformities was a stand out for me as it was very well set out and was a effective break from the text. You also used excellent external links that were very well placed within the web page. A slight improvement would be to include a link or a reference to the brief time line where you state the names of the authors, and as previously mentioned, reference the statistics that you have included. Other than that, I applaud you for a job well done!--[[User:Z3252083|z3252083]] 12:22, 22 September 2010 (UTC)<br /> <br /> --Group 2 Chronic villus sampling<br /> This webpage shows that the group was very thorough in the research due to the amount of detail that has gone into it and its many links. The layout is very well set out which helps someone understand it if he/she has no previous knowledge of the concept. The use of pictures and diagrams were done well as it broke the page up making it very easy to read and take in the information. The only advice I can give is to maybe separate the difference between normal and abnormal chromosomes and the adjacent table to allow the table more room and be easily viewed. That’s all guys and well done considering you only had 2 people working on it. <br /> <br /> --[[User:Z3290040|3290040]] 10:19, 22 September 2010 (UTC)<br /> <br /> <br /> ----<br /> <br /> <br /> ----<br /> <br /> ===group discussion===<br /> <br /> <br /> I agree the page feels more &quot;in order&quot; now. yeh... its tough trying to find more information. I guess i'll expand on maybe on some of the abnormalities? I was thinking we can get pictures of the several diseases but it will probably be a little difficult due to copyright? hmm if i get new ideas from now until tommorrow i'll definately add more stuff in --[[User:Z3224500|Jenny Huang]] 06:38, 15 September 2010 (UTC)<br /> <br /> <br /> <br /> Hey Jenny, i changed the order of the page around, i think it makes more sense now, before it didnt really flow from one section to the next, i think its a bit better, i tried to do it on this order, Intro, history, procedure, results, risks, advantages. that order seems to be how most wiki pages are set up, and how mark sets up his pages. what do you think? -Jill --[[User:Z3265772|z3265772]] 02:14, 15 September 2010 (UTC)<br /> <br /> <br /> i think i searched prenatal diagnosis in the search box on the left, and mark has made a prenatal diagnosis page. the prenatal diagnosis terms were on that. ive been looking at last years pages, and they have so much content, but there just isnt that much information on CVS. theres only so much you can write about it. i guess we need to start thinking outside the box and adding general prenatal stuff on here too. thats why i thought maybe another table with a timeline of other techniques on it. ? ill just do it and see how it looks... -Jill --[[User:Z3265772|z3265772]] 01:47, 15 September 2010 (UTC)<br /> <br /> <br /> hmm good idea.. btw what article did you find the terms for the prenatal diagnosis? should i incorporate that in the results section? --[[User:Z3224500|Jenny Huang]] 15:19, 14 September 2010 (UTC)<br /> <br /> <br /> maybe we could also do ethical issues? -Jill --[[User:Z3265772|z3265772]] 12:35, 14 September 2010 (UTC)<br /> <br /> Just an idea if we wanted to add more to the page, we could do another table, with the different diagnostic techniques used - eg ultrasound, AFP, amniocentesis and CVS etc and do a timeline with when each technique can be used, what it can test for, and how invasive it is. i know its not directly CVS, but it will give a good overview of the advantages and disadvantages etc. and im running out of ideas of what else we can have on here. can you think of anything else? -Jill --[[User:Z3265772|z3265772]] 12:30, 14 September 2010 (UTC)<br /> <br /> <br /> Found out its due thurs, Sorry!! im doing malformations now, but we definitely need to add more content, last years pages had over 600 revisions, we only have 200. So add whatever you think we could do to improve the page. Thanks for your help over the weekend, i did feel alone in creating the page! Looks great now though! Maybe we could look at last years pages and see what we like about them, and maybe get some ideas on how to add to our page. im trying to put alot of effort in as its worth 20% of our final mark :) ive also added to the malformations part, ill keep doing that. Thanks!! -Jill --[[User:Z3265772|z3265772]] 02:24, 13 September 2010 (UTC)<br /> <br /> <br /> <br /> Hey can't make it to lecture today.. but if its due for peer assesment today/this week, what suggestions do you think we can improve on? hmm also whos doing the part on malformations? --[[User:Z3224500|Jenny Huang]] 23:07, 12 September 2010 (UTC)<br /> <br /> <br /> yeah good question.. ill see if i can find something more recent and let you know. i guess it would be. also, hope you dont mind, i put some of your references in, and added some pictures :) -Jill --[[User:Z3265772|z3265772]] 13:00, 12 September 2010 (UTC)<br /> <br /> <br /> Hey for the section on malformations in current research, would it be limb defects? the articles I found were mostly from the 1990s so I'm not sure if I should use..--[[User:Z3224500|Jenny Huang]] 12:49, 12 September 2010 (UTC)<br /> <br /> <br /> Yay it looks neat!!!glad you figured out how to fix the formatting.. It was rather confusing before haha. SOrry if it seems like you are doing most of the work :( I'll add to the current research to lighten off your load.i'll be working on it most of the weekend--[[User:Z3224500|Jenny Huang]] 16:39, 10 September 2010 (UTC)<br /> <br /> <br /> I made a table!! it took AGES but it looks good :) we probably need to spread everything out a bit, it looks a bit crowded, but getting there! i separated the risks from current research :)- Jill --[[User:Z3265772|z3265772]] 12:03, 10 September 2010 (UTC)<br /> <br /> <br /> <br /> Hmm it didn't take that long.. btw I've already done it but I haven't uploaded it yet but I'll do so now... hmm by the way should the heading &quot;risks&quot; be separate from the &quot;current assosciated research&quot; heading?--[[User:Z3224500|Jenny Huang]] 02:53, 10 September 2010 (UTC)<br /> <br /> Hey! Did it take long to do the drawing for the transabdominal technique? i was thinking we could do a second one the same for transcervical. what do you think? - Jill --[[User:Z3265772|z3265772]] 02:09, 10 September 2010 (UTC)<br /> <br /> <br /> <br /> Im pretty sure its due monday for peer assessment, thats what it says in the course guide. did he say it was due thurs in the lab last week? hope its due thurs! that would be awesome! - Jill --[[User:Z3265772|z3265772]] 12:00, 9 September 2010 (UTC)<br /> <br /> <br /> <br /> <br /> Hey Jill, wow only 4 days! I was mistaken that it was due next thursday. But don't wrry, I'll have the whole weekend to finish up ;)--[[User:Z3224500|Jenny Huang]] 08:30, 9 September 2010 (UTC)<br /> <br /> <br /> <br /> <br /> Hi! Ive used a reference that is not from pub med, so you can copy that to use references that arent in pub med. :) only 4 days till its due! - Jill --[[User:Z3265772|z3265772]] 01:29, 9 September 2010 (UTC)<br /> <br /> <br /> <br /> <br /> some pictures we can use, this first one is Primary chorionic villi, the second picture is secondary chorionic villi, these may be helpful when describing the technique -Jill --[[User:Z3265772|z3265772]] 09:52, 7 September 2010 (UTC)<br /> <br /> <br /> [[File:Gray36.png|left|400 px]]<br /> <br /> <br /> [[File:Gray37.png|left|400 px]]<br /> <br /> <br /> <br /> <br /> <br /> <br /> Hmm so basically we do the peer review the week after mid sem break until the 23rd of september, and we paste both the review on the groups page and on your own page... also apparently the other student discontinued the course so its just us doing the project now =S --[[User:Z3224500|Jenny Huang]] 03:02, 2 September 2010 (UTC)<br /> <br /> <br /> <br /> Yay!! looks awesome!! Sorry i couldnt be there today, could you let me know what Mark says? thanks :) - Jill --[[User:Z3265772|z3265772]] 23:59, 1 September 2010 (UTC)<br /> <br /> <br /> <br /> I've uploaded the first pic... I hope it's ok and if I did the layers wrongly please tell me so I can edit... also how do you do referencing that is not from pubmed journals?--[[User:Z3224500|Jenny]] 23:18, 1 September 2010 (UTC)<br /> <br /> <br /> <br /> Hi Jenny, are you doing the drawn figure still? would you possibly be able to upload it before thursday? i have updated references for my section :) - Jill --[[User:Z3265772|z3265772]] 08:52, 1 September 2010 (UTC)<br /> <br /> <br /> <br /> --[[User:S8600021|Mark Hill]] 00:49, 31 August 2010 (UTC) I have emailed your missing team member , but have not had a response yet. Your should continue to work on the project together as best you can. It seems to be progressing, though I did ask you to update your reference format and I do not see a student drawn figure. You need to have this updated before this weeks lab when I will be reviewing all projects.<br /> <br /> <br /> <br /> <br /> <br /> Hi Jill, I'm working on it :) by the way have you heard from the other team member? Oh and I'll be drawing pictures for both the transcervical and transabdominal techniques..--[[User:Z3224500|Jenny Huang]] 07:46, 30 August 2010 (UTC)<br /> <br /> <br /> <br /> Hi guys, only two weeks to go, we really need to do some more work, the editing at the end will be the hardest, so the sooner we finish, the easier it will be. - Jill--[[User:Z3265772|z3265772]] 23:46, 29 August 2010 (UTC)<br /> <br /> <br /> <br /> Can we incorporate some sort of timeline? what do you think? maybe we can do a timeline of embryo development and note the time that CVS is done - Jill --[[User:Z3265772|z3265772]] 00:57, 26 August 2010 (UTC)<br /> <br /> <br /> <br /> Mark has kindly shown us how to reference, ill try to sort that out tonight or tomorrow - Jill --[[User:Z3265772|z3265772]] 23:16, 25 August 2010 (UTC)<br /> <br /> <br /> <br /> Ive just discovered, you can use almost any picture on wiki, the copyrights have usually expired, which is why wiki can use them, just search CVS on wiki and if there is a picture you like, check the copyright and copy away!! :D -Jill --[[User:Z3265772|z3265772]] 01:05, 25 August 2010 (UTC)<br /> <br /> <br /> <br /> Hi guys, please feel free to edit any work i have done, or add to it, or even suggest to me on this page what to add. what i have put up so far really is a rough draft and will be trying to add to it later anyway :) -Jill --[[User:Z3265772|z3265772]] 00:50, 25 August 2010 (UTC)<br /> <br /> <br /> <br /> {{Template:Projects10MHtalk}}<br /> <br /> <br /> <br /> Hi guys, we need to get on top of this, its due for peer assessment in 3 weeks! Im going to do related research. does anyone want to do the drawing? ill also try and get some more references and photos up, as Mark has suggested. If you want a picture, just email the website with the picture on it, thats what ive been doing, they are usually pretty good about it. let me know of any other ideas you guys might have - Jill --[[User:Z3265772|z3265772]] 09:50, 23 August 2010 (UTC)<br /> <br /> <br /> <br /> --[[User:S8600021|Mark Hill]] 04:35, 23 August 2010 (UTC) OK there are a few references here, but you will need more than these few and there should be some related images.<br /> <br /> <br /> <br /> Link for group assessment criteria: [[2010_Lab_1#Group_Assessment_Criteria|group assessment criteria]] - Jill--[[User:Z3265772|z3265772]] 00:50, 25 August 2010 (UTC)<br /> <br /> <br /> <br /> For current associated research:<br /> <br /> <br /> http://onlinelibrary.wiley.com/doi/10.1002/pd.2410/abstract<br /> <br /> http://www.ncbi.nlm.nih.gov/pubmed/11263542<br /> <br /> http://www.ncbi.nlm.nih.gov/pubmed/19683693<br /> <br /> http://www.sciencedirect.com/science?_ob=ArticleURL&amp;_udi=B6T7V-4BWVXPY-F9&amp;_user=10&amp;_coverDate=03%2F31%2F1994&amp;_rdoc=1&amp;_fmt=high&amp;_orig=search&amp;_sort=d&amp;_docanchor=&amp;view=c&amp;_searchStrId=1427646674&amp;_rerunOrigin=google&amp;_acct=C000050221&amp;_version=1&amp;_urlVersion=0&amp;_userid=10&amp;md5=a3c3f2d47ad01c562a3baea8c60a48bc<br /> <br /> http://www.informaworld.com/smpp/content~db=all~content=a913951525<br /> <br /> http://www.escardiocontent.org/periodicals/ejcpr/article/S0002-9378%2807%2900305-5/abstract<br /> <br /> http://humrep.oxfordjournals.org/cgi/content/abstract/3/6/811<br /> <br /> - Jill--[[User:Z3265772|z3265772]] 00:50, 25 August 2010 (UTC)<br /> <br /> Hi guys, i put up the link for Search Pubmed for our topic, did we want to assign ourselves a role to do or just see how the page goes? i thought maybe we could find a page that we like and follow a similar format, that way we know what our page will look like and can follow a layout as we go. -Jill --[[User:Z3265772|z3265772]] 01:12, 9 August 2010 (UTC)<br /> <br /> <br /> also, see this web page http://www.cdc.gov/mmwr/preview/mmwrhtml/00038393.htm Jill --[[User:Z3265772|z3265772]] 11:16, 9 August 2010 (UTC)<br /> <br /> <br /> project outline: <br /> <br /> 1. Intro<br /> <br /> 2. historic background<br /> <br /> 3. current associated research<br /> <br /> 4. simplified description of technique<br /> <br /> http://journals.lww.com/co-obgyn/Abstract/2010/04000/Chorionic_villus_sampling__technique_and_training.11.aspx<br /> <br /> 5. student drawn figure or animation<br /> <br /> 6. reference list<br /> <br /> 7. glossary<br /> <br /> 8. external links<br /> <br /> -Jill --[[User:Z3265772|z3265772]] 03:05, 11 August 2010 (UTC)<br /> <br /> <br /> Can anyone tell me how to paste a picture from an outside source? i cant seem to figure it out. thanks :) <br /> -Jill --[[User:Z3265772|z3265772]] 05:03, 11 August 2010 (UTC)<br /> <br /> dont worry, i figured it out :)<br /> <br /> <br /> i think we should put the references list on this page to begin with to make sure we dont double up <br /> - Jill --[[User:Z3265772|z3265772]] 05:31, 11 August 2010 (UTC)<br /> <br /> Hey guys sorry for the delay in replies. I see you have made a contribution to the topic already :) By the way, where did you find the project outline criteria? Oh and if you don't mind I can do research on the description of technique and current research. Feel free to contribute :) oh and any ideas on how to work on the drawings? --[[User:Z3224500|Jenny Huang]] 15:29, 11 August 2010 (UTC)<br /> <br /> <br /> Hello guys,<br /> <br /> So I found some journal articles that is of interest especially this one: http://apps.who.int/rhl/reviews/langs/CD003252.pdf which is long and has extensive information on the topic..<br /> So I'll be editing my section in word and will be posting some info on technique in the future.<br /> <br /> Btw here are some other articles that are of interest that can be accessed through unsw sirius:<br /> <br /> <br /> <br /> http://linkinghub.elsevier.com/retrieve/pii/S0889854505702916<br /> <br /> http://journals.lww.com/co-obgyn/Abstract/2010/04000/Chorionic_villus_sampling__technique_and_training.11.aspx<br /> <br /> http://journals.lww.com/co-obgyn/Abstract/2005/04000/Chorionic_villus_sampling_and_amniocentesis.16.aspx<br /> <br /> Complications:<br /> <br /> http://journals.lww.com/greenjournal/Abstract/2007/09000/Procedure_Related_Complications_of_Amniocentesis.24.aspx<br /> <br /> http://journals.lww.com/greenjournal/Abstract/2008/10000/Evaluating_the_Rate_and_Risk_Factors_for_Fetal.12.aspx<br /> <br /> I'll be adding more once I find some that are useful..<br /> <br /> <br /> Oh and about the topic headings are we just going to use the ones in the assesment criteria?<br /> <br /> <br /> --[[User:Z3224500|z3224500]] 15:03, 24 August 2010 (UTC)<br /> <br /> <br /> Hey Jenny!! i think its a great idea to use more headings, add as many as you like/can think of, i just cant think of any more. i think the assessment criteria is just the bare minimum we have to do, so please add more! Also, can we add the new discussion posts to the top of the page? so we dont have to scroll to the bottom every time? what do you think? (it says up the top of this page to add newer material at the top, just wondering what you thought). i really like the articles you have found too :) see you tomorrow <br /> - Jill --[[User:Z3265772|z3265772]] 00:29, 25 August 2010 (UTC)</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=File:Transabdominal_CVS.jpg&diff=38321 2010-09-26T11:05:55Z

<p>Z3265772: </p> <hr /> <div>The Transabdominal procedure for chorionic villus sampling (CVS). A hollow needle is passed through to the placenta and a sample of the villi from the chorion is taken for testing.<br /> <br /> &quot;Beginning six months after publication, I (z) grant the public the non-exclusive right to copy, distribute, or display the Work under a Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported license, as described at http://creativecommons.org/licenses/by-nc-sa/3.0/ and http://creativecommons.org/licenses/by-nc-sa/3.0/legalcode.&quot;</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=2010_Group_Project_2&diff=38320 2010-09-26T11:02:48Z

<p>Z3265772: /* Table Comparing Prenatal Diagnosis Techniques */</p> <hr /> <div>[[File:Embryo_11-14_weeks.jpg|right|400 px]]<br /> <br /> ='''Chorionic Villus Sampling (CVS)'''=<br /> <br /> =Introduction=<br /> <br /> [[Image:Gray31.png|thumb|350px|right|Grays]]<br /> <br /> <br /> Chorionic villus sampling or CVS is a type of prenatal diagnosis test performed in the first trimester to detect major fetal abnormalities such as down syndrome, cystic fibrosis and tay-sachs disease, among many others. In the procedure, tissue is withdrawn from small finger like projections on the placenta called chorionic villi and tested for chromosomal defects. It is commonly performed between 10 and 12 weeks of pregnancy. <br /> The advantage of CVS over other procedures is that the result is available approx 6 weeks earlier in the pregnancy, so if a termination is needed, it can be done earlier which is much safer, rather than later in the pregnancy, which can carry more risks. &lt;ref&gt;Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., de, l.C., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Lubs, H.A., Mahoney, M.J., Pergament, E., Simpson, J.L., Carpenter, R.J., Elias, S., Ginsberg, N.A., Goldberg, J.D., Hobbins, J.C., Lynch, L., Shiono, P.H., Wapner, R.J. &amp; Zachary, J.M. 1989, &quot;The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities&quot;, New England Journal of Medicine, vol. 320, no. 10, pp. 609-617.&lt;/ref&gt;<br /> <br /> ''Reasons for getting chorionic villus sampling can include:''<br /> <br /> -History of genetic disorders in the family<br /> <br /> -Parents have already had a child with a disorder such as down syndrome or cystic fibrosis<br /> <br /> -Abnormal ultrasound result<br /> <br /> -Maternal age of 35 or older, which increases the risk of chromosomal defects such as down syndrome<br /> <br /> <br /> =Historic background=<br /> <br /> <br /> '''Brief timeline of CVS use'''<br /> <br /> *1968 - Mohr in Scandinavia introduced the concept of prenatal diagnosis using chorionic villi sampling &lt;ref&gt;&lt;pubmed&gt;5691288&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1973 - Kullander and Sandahl and Hahnemann in 1974 showed further study into chromosomal analysis from CVS &lt;ref&gt;&lt;pubmed&gt;4766093&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1975 - from the Department of Obstetrics and Gynaecology at the Tietung Hospital in Anshan, China was successful in using CVS to determine sex of fetuses for sex pre selection. &lt;ref&gt;&lt;pubmed&gt;811431&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1980 - Kazy et al. were the first to use ultrasound guidance during chorionic villi sampling. &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1981 - Niazi et al. improved methods for culturing of fibroblasts from trophoblast villi. &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1983 - Ward performed transcervical CVS with 67% success rate. In the same year, the Brombati group demonstrated and 96% success rate with obtaining villi with the aid of ultrasound guidance &lt;ref&gt;&lt;pubmed&gt;6463023&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1984 - Smidt-Jensen and Hahnemann introduced transabdominal CVS under ultrasound guidance &lt;ref&gt;&lt;pubmed&gt;4088973&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1986 - The Golbus group had a 3.8% miscarriage rate, and subsequently many other clinics started reporting a much lower rate of miscarriage at 1.7% making the procedure safe for routine use &lt;ref&gt;&lt;pubmed&gt;3717235&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> ===Jan Mohr (1921-2009)===<br /> [[Image:Jan_Mohr.jpg|thumb|200px|left|Jan Mohr]]<br /> <br /> <br /> '''1968 -- Concept of CVS introduced'''<br /> <br /> In 1968 Jan Mohr introduced the concept of prenatal diagnosis using the CVS technique. &lt;ref&gt;&lt;pubmed&gt;5691288&lt;/pubmed&gt;&lt;/ref&gt; He used the transcervical method to get a biopsy of the chorion using an endoscope as the source of vision. The current technique differs by using mostly transabdominal access with ultrasound instead of an endoscope. He reported a 96% success rate in obtaining chorionic material but with a high incidence of bleeding and infection. The approach was abandoned as amniocentesis became more popular due to higher safety levels<br /> <br /> <br /> <br /> '''1973-1975 -- Further study into chromosomal analysis from CVS'''<br /> <br /> Kullander and Sandahl in 1973 and Hahnemann in 1974 further researched fetal chromosome analysis using transcervical biopsy before termination in early pregnancies. &lt;ref&gt;&lt;pubmed&gt;4766093&lt;/pubmed&gt;&lt;/ref&gt; In 1975 the first successful diagnostic use of chorionic villi was reported at the Tietung Hospital in China. &lt;ref&gt;&lt;pubmed&gt;811431&lt;/pubmed&gt;&lt;/ref&gt; This is where fetal sex was diagnosed for the purpose of sex pre-selection. They claimed to have 94% diagnosis success and only 4% miscarriage rate. Researchers in the United States were, however unable to duplicate the results and so the idea of CVS diagnosis was again abandoned for some time.<br /> <br /> <br /> '''1980-1983 -- Change from endoscopic examination to ultrasound to guide CVS'''<br /> <br /> With the invention of the ultrasound and advancement in molecular genetics, an earlier prenatal diagnosis was now sought after. So Kazy et al. in 1980, began using both the endoscope and the ultrasound for fetal sexing on chorion biopsies. This was the first report of using ultrasound guidance during chorion sampling. After Kazy et.al. began using the ultrasound for guidance, many others followed. Niazi et al., Ward and the Brombati group all started using ultrasound guided CVS. Techniques quickly improved and success rate of obtaining chorionic material rose from 75% to 96% &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> '''1984-1986 -- The introduction of transabdominal CVS'''<br /> <br /> In 1984, Smidt-Jensen and Hahnemann in Copenhagen introduced transabdominal CVS using ultrasound guidance. &lt;ref&gt;&lt;pubmed&gt;6463023&lt;/pubmed&gt;&lt;/ref&gt; With less chance of infective complications the procedure has become more popular than the transcervical method in many prenatal diagnostic centers. Other ultrasonic techniques and modifications were explored by the Brambati and Simoni group and the Golbus group in 1985. &lt;ref&gt;&lt;pubmed&gt;4088973&lt;/pubmed&gt;&lt;/ref&gt; The Golbus group reported in 1986 a miscarriage rate of 3.8%. &lt;ref&gt;&lt;pubmed&gt;3717235&lt;/pubmed&gt;&lt;/ref&gt; Subsequently, many other centres reported a much lower miscarriage rate of 1.5% which made the procedure safe for routine use.<br /> <br /> ==Table Comparing Prenatal Diagnosis Techniques==<br /> <br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ This table shows invasiveness and timeframe for some prenatal diagnostic techniques<br /> ! Invasiveness !! Diagnostic technique !! Comments !! Time that procedure can be performed !! Diagram<br /> |-<br /> |Non Invasive<br /> |[[2010_Group_Project_1|Ultrasound]]<br /> |'''Tests for:''' neural tube defects, chromosomal abnormalities and congenital heart abnormalities<br /> <br /> '''Risks:''' No risks currently indicated for ultrasound use in prenatal diagnosis. <br /> <br /> This test uses high frequency sound waves through a transmitting device, which construct a picture of the fetus when the waves are reflected and received back by the transmitter. Due to no known risks, ultrasound use is used routinely in pregnancies and is the first port of call for prenatal diagnosis. If a potential abnormality is found or the parents are high risk, then a more invasive diagnostic technique may be recommended. The type of diagnostic technique used depends on the potential abnormality found. &lt;ref&gt;Kremkali, F.W. (2006) Diagnostic Ultrasound Principles and Instruments (7th ed.) St Louis: Saunders Elsevier. pp3-5&lt;/ref&gt;[[2010_Group_Project_1|More about Ultrasound]]<br /> |Weeks 18-20<br /> |[[File:ZConvex_Array_Transducer.jpg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> |'''Tests for:''' chromosomal abnormalities and genetic abnormalities <br /> <br /> '''Risks:''' Miscarriage (1%), some of the side effects include dizziness, abdominal discomfort, cramping, haemorrhage, infection, ruptured amniotic sac, increased risk of limb defects if the test was performed at nine weeks’ gestation or earlier &lt;ref&gt;Alfirevic, Z., K. Sundberg, et al. 2008. &quot;Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review).&quot; Cochrane Database of Systematic Reviews 4: 1-134.&lt;/ref&gt;<br /> <br /> With the guidance of Ultrasound, a needle is inserted in to the abdomen or through the cervix and a small sample of chorionic villi from the placenta are obtained. This sample is sent to a cytogenetics laboratory where the cells are cultured and stained, and photographed to view chromosomes <br /> |Weeks 10-12<br /> |[[File:Transabdominal_CVS.jpg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_3|Amniocentesis ]] <br /> |'''Tests for:''' chromosomal abnormalities, fetal infections, and genetic abnormalities<br /> <br /> '''Risks:''' Miscarriage &lt;1%, stillbirths 3%, and small risk of infection. &lt;ref&gt;&lt;pubmed&gt;PMC2464303&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> A needle is inserted in to the uterus where a sample of the amniotic fluid surrounding the fetus is taken. This procedure is usually done with the guidance of ultrasound so the physician can see where the needle is being inserted. The amniotic fluid is analysed for abnormalities. [[2010_Group_Project_3|More about Amniocentesis ]]<br /> |Weeks 15-16<br /> |[[File:Process_of_amniocentesis.jpeg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_4|Percutaneous Umbilical Cord Blood Sampling]]<br /> |'''Tests for:'''chromosomal abnormalities, blood disorders, some metabolic disorders, fetal infections, and some causes of structural problems.<br /> <br /> '''Risks:'''Miscarriage &lt;2%, Preterm labour, fetal bradycardia, bleeding of the umbilical cord. &lt;ref&gt;&lt;pubmed&gt;16530195&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> A small needle is inserted in to the abdomen of the mother and a sample of blood is taken from the umbilical vein in the umbilical cord. This technique is often used when other diagnostic techniques are inconclusive, but should be used with caution as carries higher risk rates. The benefit of Percutaneous Umbilical Cord Blood Sampling is that the results are available much faster, within 72 hours of testing. CVS and amniocentesis tests need culturing and therefore take up to 11 days for a result. [[2010_Group_Project_4|More about Percutaneous Umbilical Cord Blood Sampling]]<br /> |Weeks 18-22<br /> |[[File:Placenta_Anterior.jpg|right|150 px]]<br /> |-<br /> |Less Invasive<br /> |[[2010_Group_Project_5|Fetal Fibronectin]]<br /> |'''Tests for:'''determines the likelihood of premature birth in women of high risk<br /> <br /> '''Risks:'''No known risks for the testing of Fetal Fibronectin, as is it less invasive than other techniques.<br /> <br /> Fetal Fibronectin is only found in the uterus until the onset of labour when is secretes in through the cervix. In this procedure, a sample of the cervico-vaginal secretions are taken and sent to the lab for testing. If the test comes out positive for Fetal Fibronectin in the vagina, the mother has a chance of going into premature labour. [[2010_Group_Project_5|More about Fetal Fibronectin]]<br /> |Weeks 24-34<br /> |<br /> |-<br /> |Non Invasive<br /> |[[2010_Group_Project_6|Maternal serum alpha-fetoprotein]]<br /> |'''Tests for:'''AFP is a type of screening test and do not diagnose problems, but signal whether further testing is needed. Normal AFP levels are increased in Neural Tube Defects and Omphalocoele &amp; decreased in Down Syndrome.<br /> <br /> '''Risks:'''No known risks as Maternal serum alpha-fetoprotein is non invasive<br /> <br /> A blood sample is taken from the mother and alpha-fetoprotein levels are measured in the lab. These measurements can determine the risk level of certain abnormalities in the fetus. The advantage is that it is non invasive, but the disadvantage is that it has a very high false positive rate, so many mothers have gone on to have amniocentesis or chorionic villus sampling to find nothing is wrong with the baby. This can be overcome by having another alpha-fetoprotein test before getting amniocentesis or chorionic villus sampling. [[2010_Group_Project_6|More about Maternal serum alpha-fetoprotein]]<br /> |Weeks 15-20<br /> |[[File:Enzyme_immunoassay.jpg|right|150 px]]<br /> |-<br /> |}<br /> <br /> =Description of technique=<br /> <br /> [[File:transabdominal_CVS.jpg|right|thumb|280px|Transabdominal Technique]]<br /> [[File:transcervicalCVS.jpg|right|thumb|280px|Transcervical Technique]]<br /> <br /> CVS can be performed in two ways, through the cervix (transcervical) or through the abdomen (transabdominal). Both techniques are equally safe when performed by an experienced technician, however miscarriage rates are somewhat higher when done through the cervix. Prior to the procedure, an abdominal ultrasound can be performed to locate the position of the uterus, and the placenta. A full bladder is not required. Depending on the type of method performed, the vulva, vagina, cervix or abdomen are cleaned with antiseptic. The procedure normally takes only 1-2 minutes to perform and the patient is able to leave the clinic within the hour after the fetus is checked.&lt;ref&gt;Melbourne Ultrasound for Women. Chorionic Villus Sampling. Accessed 5 September 2010. http://www.nevdgp.org.au/info/melb_us/cvs_melb.htm&lt;/ref&gt; <br /> <br /> <br /> <br /> ===Transabdominal Procedure===<br /> <br /> # A local anaesthetic is first applied to the abdomen.&lt;br&gt;<br /> # A thin hollow needle is then inserted through the abdomen into the uterus and into the edge of the placenta where the chorion is located. An ultrasound transducer is commonly used to guide the needle during the procedure. &lt;br&gt;<br /> # A finer syringe needle is then passed through the outer needle, and the tissue is then drawn.&lt;br&gt;<br /> # The sample is taken to the laboratory for testing. <br /> <br /> ===Transcervical Procedure===<br /> # A speculum is inserted in the vagina and the area is cleaned with antiseptic.&lt;br&gt;<br /> # With the help of ultrasound imaging, a thin cannula is then inserted through the cervix and uterus and into the placenta.&lt;br&gt;<br /> #The tissue sample is then taken up through the cannula.&lt;br&gt;<br /> &lt;ref&gt;&lt;pubmed&gt;20154617&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> After the sample is taken to the laboratory, the cells are grown until there are enough cells for chromosome testing. The results normally take up to 2 weeks to complete.<br /> <br /> ===Complications===<br /> <br /> Some of the side effects and complications after a CVS procedure can include:<br /> <br /> * Dizziness <br /> * Abdominal discomfort<br /> * Cramping<br /> * Haemorrhage<br /> * Infection<br /> * Ruptured amniotic sac<br /> * Increased risk of limb defects if the test was performed at nine weeks’ gestation or earlier<br /> * Premature delivery<br /> &lt;ref&gt;Alfirevic, Z., K. Sundberg, et al. 2008. &quot;Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review).&quot; Cochrane Database of Systematic Reviews 4: 1-134.&lt;/ref&gt;<br /> <br /> Additional complications can involve technical errors such as failure of the specimen to grow sufficiently in the laboratory and uncertain laboratory results. If this occurs, amniocentesis is still an option after 15 weeks.<br /> <br /> ===Results and Accuracy===<br /> <br /> The accuracy of CVS to detect chromosome abnormalities is quite high, at around 98-99% &lt;ref&gt;Hall, Judith G. &quot;Chromosomal Clinical Abnormalities.&quot; In Nelson Textbook of Pediatrics. Edited by Richard E. Behrman et al. Philadelphia: Saunders, 2004.&lt;/ref&gt;. Although it has a high accuracy rate to diagnose most major chromosomal problems, CVS does have some limitations. Having A negative result for an abnormality does not rule out ALL genetic defects the baby may have. Comparatively to amniocentesis, CVS does NOT detect neural tube defects such as spina bifida, or anencephaly. <br /> The type of chromosome abnormalities detected by CVS will be further discussed in detail below.<br /> <br /> ===Limitations===<br /> [[file:Double_tetrasomy_18_mosaicism.jpg‎|thumb|250 px|Example of a child with double tetrasomy 18+ mosaicism.]]<br /> <br /> '''Maternal contamination'''<br /> <br /> Since the villus sample also involves maternal cells, there is a possibility that they may take over the laboratory culture instead, consequently leading to the mother's cells being tested instead of the fetus's cells. The risk of this happening is low however and is decreased when the sample contains an adequate amount of fetal cells.<br /> <br /> <br /> '''Mosaicism'''<br /> <br /> &quot;Mosaicism&quot; occurs when both abnormal and normal cells are found in the chorionic villi. Mosaicism can involve both the fetus (true fetal mosaicism) and the placental tissues or the placental tissues alone. When this happens, cells that multiply from these abnormal cells may develop a chromosome anomaly.<br /> What can result is that in certain body organs the fetus has a combination of cells that are abnormal and normal in genetic structure. <br /> The rate of the placental type occuring is found in 1-2% of pregnancies detected by CVS.&lt;ref&gt;&lt;pubmed&gt;9316125&lt;/pubmed&gt;&lt;/ref&gt; When mosaicism is detected by CVS, the limitation lies in the inability to conclude that the baby itself and not just the placental tissues will share the mosaicism. Even if the baby is affected, it will be unclear as to what percentage of the fetal cells and the type of organs that will be affected.&lt;ref&gt;Trofatter. K.F. 2008. Chromosomal Mosaicism Detected at the Time of Chorionic Villus Sampling. Accessed on 15 September 2010. http://www.healthline.com/blogs/pregnancy_childbirth/2008/03/chromosomal-mosaicism-detected-at-time.html&lt;/ref&gt;<br /> <br /> =Risks=<br /> <br /> <br /> When Chorionic Villus Sampling is performed, a small sample of the placenta is removed for analysis. The placenta contains fetal material, therefore can reveal genetic defects which may lead to problems or abnormalities. &lt;ref&gt;&lt;pubmed&gt;20664398&lt;/pubmed&gt;&lt;/ref&gt; This prenatal test can be performed as early as 11 weeks into the pregnancy, this is earlier than many prenatal diagnosis tests, which is why many parents choose CVS as they can have solid information earlier in the pregnancy. Some common risks which are not under current research include: Cramping, light blood spotting, pain, fever and chills, leakage (which can be a major concern as it can lower amniotic fluid to a dangerous level for the infant), and potential for missing fingers and toes in the newborn. For this reason, the procedure is only recommended for women who are at least 11 weeks pregnant. &lt;ref&gt;&lt;pubmed&gt;20051662&lt;/pubmed&gt;&lt;/ref&gt; The other major risks that are currently being researched are outlined below<br /> <br /> ====Transabdominal vs Transcervical CVS. Comparison of risks====<br /> <br /> <br /> [[File:CVS_Table.jpg|left|thumb|280px|Transabdominal vs Transcervical risks]]<br /> <br /> This table shows the symptoms of women approximately 3 days after sampling. The table shows women who had undergone transcervical sampling had higher frequencies of fluid leakage, vaginal spotting, and bleeding. When a tenaculum is not used, the frequency of vaginal spotting and bleeding persisted in the transcervical-sampling group. Only two women, both in the transcervical-sampling group, had a temperature above 38°C. &lt;ref&gt;Jackson, L.G., Zachary, J.M., Fowler, S.E., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Mahoney, M.J., Pergament, E., Simpson, J.L., Black, S. &amp; Wapner, R.J. 1992, &quot;A Randomized Comparison of Transcervical and Transabdominal Chorionic-Villus Sampling&quot;, New England Journal of Medicine, vol. 327, no. 9, pp. 594-598.&lt;/ref&gt;<br /> <br /> <br /> ====Miscarriage====<br /> <br /> One of the biggest risks of Chorionic Villus Sampling is miscarriage. In one to 100 or 200 cases, the procedure is linked with miscarriage. &lt;ref&gt;&lt;pubmed&gt;19155918&lt;/pubmed&gt;&lt;/ref&gt; In an experienced clinic, this rate may go down to one in 300 to 400. To lower the risk of miscarriage with Chorionic Villus Sampling, it is recommended the procedure be performed by an experienced clinician<br /> <br /> <br /> ====Oligohydramnios====<br /> <br /> Oligohydramnios is a condition due to low amniotic fluid level, which is caused by amniotic fluid leakage. Amniotic fluid leakage is typically caused by fetal urinary tract abnormalities such as Potter's syndrome, polycystic kidneys, or genitourinary obstruction. But leakage can sometimes be caused by sampling of the chorionic villi due to insertion of the needle. If the resulting oligohydramnios is not treated and the amniotic fluid continues to leak it can result in the baby developing hypoplastic lungs (underdeveloped lungs). &lt;ref&gt;&lt;pubmed&gt;17694578&lt;/pubmed&gt;&lt;/ref&gt;&lt;br&gt;&lt;br&gt;<br /> <br /> <br /> '''Why would you use CVS over other techniques?'''<br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ Advantages and Disadvantages of Chorionic Villus Sampling<br /> ! Advantages !! Disadvantages <br /> |-<br /> |Can be performed earlier in pregnancy than amniocentesis (at around ten weeks).<br /> <br /> Results are available faster<br /> <br /> Cells obtained are mitotically active<br /> <br /> Amount of tissue obtained is preferable for DNA analysis.<br /> <br /> It is almost 100% reliable in detecting chromosomal and genetic defects.<br /> |It carries a slightly higher risk of miscarriage (1%-2%) than does amniocentesis<br /> <br /> It's less commonly available than amniocentesis, and fewer doctors are experienced in the procedure.<br /> <br /> It entails a greater risk of distorted results than does amniocentesis due to presence of mother's cells in the sample and discrepancies between chorionic villi and fetal genes.<br /> <br /> Metabolic disorders are difficult to diagnose and must be confirmed with amniocentesis.<br /> <br /> Because of the early gestational age at which the test is performed, fetal anatomy cannot be seen as well as it can at the time amniocentesis is performed.<br /> |-<br /> |}<br /> &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt;<br /> <br /> =Abnormalities found by CVS prenatal diagnostic technique=<br /> <br /> [[File:Down-normal.gif|right|thumb|280px|Normal]]<br /> <br /> [[File:Down-extra.gif|right|thumb|280px|third copy of chromosome 21]]<br /> <br /> The cells collected by CVS are sent to a cytogenetics laboratory. There the cells are cultured (stimulated to grow and divide) for 10-14 days. After enough cells are obtained, a banded karyotype is performed. This means that the fetal chromosomes in the cultured cells are stained and subsequently photographed. The photographed chromosomes are then ordered by number, counted and checked for structural abnormalities. There should be 46 chromosomes, 23 pairs. A boy's karyotype is described as 46,XY and a girl's karyotype is described as 46,XX.&lt;ref&gt;Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., de, l.C., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Lubs, H.A., Mahoney, M.J., Pergament, E., Simpson, J.L., Carpenter, R.J., Elias, S., Ginsberg, N.A., Goldberg, J.D., Hobbins, J.C., Lynch, L., Shiono, P.H., Wapner, R.J. &amp; Zachary, J.M. 1989, &quot;The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities&quot;, New England Journal of Medicine, vol. 320, no. 10, pp. 609-617. &lt;/ref&gt;<br /> <br /> <br /> <br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ This table shows what disorders CVS detects, the cause, frequency and any comments<br /> ! Disorder !! Cause !! Comments !! Frequency !! Picture <br /> |-<br /> |[[ Trisomy 21 | Down Syndrome ]]<br /> |A third copy of chromosome 21<br /> <br /> Normally, there are only two copies of this chromosome<br /> |The average IQ of children with Down syndrome is around 50, compared to normal children with an IQ of 100. Complications for people with down syndrome include: congenital heart defects, gastroesophageal reflux disease, recurrent ear infections, obstructive sleep apnea, and thyroid dysfunctions. &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt; The picture shows a newborn infant with Down Syndrome (Trisome 21)<br /> |Approximately 1 in 1,000 births &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt;<br /> |[[File:Trisomy_21_newborn.jpg|right|200 px]]<br /> |-<br /> |[[ Trisomy 13 | Trisomy 13 ]]<br /> |A third copy of chromosome 13<br /> <br /> Normally, there are only two copies of this chromosome<br /> |Also called Patau syndrome. This abnormality causes mental and motor abnormalities, polydactyly (extra digits), kidney defects, abnormal genitalia and heart defects, among many others. &lt;ref&gt;Driscoll, D.A. &amp; Gross, S. 2009, &quot;Prenatal Screening for Aneuploidy&quot;, New England Journal of Medicine, vol. 360, no. 24, pp. 2556-2562. &lt;/ref&gt; The picture shows an infant with polydactyly, a potential complication of Trisome 13<br /> |Less than 1% <br /> |[[File:220px-Patauhand.PNG|right|200 px]]<br /> |-<br /> |[[ Trisomy 18 | Trisomy 18 ]]<br /> |A third copy of chromosome 18<br /> <br /> Normally, there are only two copies of this chromosome<br /> |Also known as Edwards syndrome. It has a very low survival rate, due to: kidney and heart defects, intestines protruding outside the body, mental abnormalities, growth disorders, feeding and breathing difficulties. &lt;ref&gt;Driscoll, D.A. &amp; Gross, S. 2009, &quot;Prenatal Screening for Aneuploidy&quot;, New England Journal of Medicine, vol. 360, no. 24, pp. 2556-2562. &lt;/ref&gt; The picture shows a clenched hand and overlapping fingers: index finger overlaps third finger and fifth finger overlaps fourth finger, characteristically seen in Trisomy 18.<br /> |1 in 3,000 conceptions and approximately 1 in 6,000 live births <br /> |[[File:200px-Overlapping_fingers.JPG|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Cystic_fibrosis Cystic Fibrosis]<br /> |A mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR) in chromosome 7.<br /> |An autosomal recessive disease that causes excessive sticky mucous to form on mucosal surfaces effecting the digestive and respiratory organs. &lt;ref&gt;Levison, J.H., Barbieri, R.L., Katz, J.T. &amp; Loscalzo, J. 2010, &quot;Hard to Conceive&quot;, New England Journal of Medicine, vol. 363, no. 10, pp. 965-970. &lt;/ref&gt; The picture shows clubbing of the fingers in a person with cystic fibrosis<br /> |Approx 1 in 3,000 <br /> |[[File:220px-ClubbingCF.JPG|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Hemoglobinopathy Hemoglobinopathy]<br /> |Structural abnormalities in the globin proteins <br /> |Multiple types of abnormal haemoglobins exist including Haemoglobin S, C E and D that alter the structure of these proteins. A common defect is sickle cell disease.&lt;ref&gt;Abboud, M.R. 2009, &quot;Hematopoietic Stem-Cell Transplantation for Adults with Sickle Cell Disease&quot;, New England Journal of Medicine, vol. 361, no. 24, pp. 2380-2381. &lt;/ref&gt;<br /> |Hemoglobinopathies are a genetic defect and therefore an inherited disorder, frequency depends on which particular hemoglobinopathy is being discussed, eg. in the case of Sickle cell disease, it is estimated that 7% of worlds population are carriers<br /> |[[File:Series_10-09.jpg|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease Tay Sachs Disease]<br /> |mutations on chromosome 15 in the HEXA gene <br /> |It is a rare autosomal recessive defect inherited from parents that are carriers for the disease. Affected individuals suffer from premature nerve cells death in the brain. &lt;ref&gt;&lt;pubmed&gt;20100466&lt;/pubmed&gt;&lt;/ref&gt;<br /> |Approx 1 in 300 are carriers<br /> |[[File:220px-Autorecessive.svg.png|right|200 px]]<br /> |-<br /> |}<br /> <br /> =Outcomes=<br /> <br /> =Ethical concerns=<br /> <br /> =Current associated research=<br /> <br /> Chorionic Villus Sampling (CVS) is one of many prenatal diagnostic tools for expectant mothers, it is popular since it can be used to identify potential problems with a fetus at a very early stage. However, the procedure does carry some risks, as does any invasive diagnostic procedure. As chorionic villus sampling is a relatively new technique, made available for safe routine use only 20 years ago, the current associated research is mainly associated with risks associated with the procedure, and ways to overcome these risks. The next section in this page will discuss the current research on CVS and the risks involved in the procedure, and not what the test results may find. <br /> <br /> ====Hypertensive disorders of pregnancy====<br /> <br /> Pregnancy induced hypertension is a condition that can occur during and after the 20th week of pregnancy. The types of hypertensive disorders can include:<br /> <br /> [[File:Enamel_Hypoplasia_Due_to_Maternal_Toxemia.jpg|thumb|200px|right|Enamel hypoplasia due to maternal toxemia]]<br /> <br /> *Pre-eclampsia or toxemia – Characterised as high blood pressure above 140/90 with proteinuria (protein in the urine that is above 300mg)<br /> * Eclampsia - Developed in a pregnant woman who has had pre-eclampsia and is characterised by seizures <br /> * Gestational hypertension – arterial hypertension that occurs after the 20th week of gestation <br /> <br /> If untreated, the condition may develop into HELLP syndrome which is a serious complication noted by hemolytic aneamia, elevated liver enzymes and a low platelet count. <br /> <br /> <br /> There has been conflicting evidence in literature that suggests that CVS is associated with hypertensive disorders in pregnancy such as pre-clampsia and gestational hypertension. In several studies, such as data from the National Institute of Health that compared late CVS procedures with early amniocentesis, showed a higher rite of gestational hypertension and preeclampsia in pregnant mothers.&lt;ref&gt;&lt;pubmed&gt;15738029&lt;/pubmed&gt;&lt;/ref&gt; (5.4% for mothers who had CVS and 3.5% that had amniocentesis.) It was hypothesized that disruption and disturbance of the placenta at 13-14 weeks may increase the risk of maternal hypertension. In addition, another recent study in 2006 also reported that there was an increase in the rate of pre-clampsia in first-time expectant mothers who have had CVS.&lt;ref&gt;&lt;pubmed&gt;19455602&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> However, in a very recent data investigation of among 9098 women that were pregnant between 1990 and 2006, the overall incidence of hypertensive disorders with women who have had CVS was 2.7% compared to the control group that did not have the procedure done which was 7.1%.&lt;ref&gt;&lt;pubmed&gt;19918960&lt;/pubmed&gt;&lt;/ref&gt; Similarly, in a study conducted by The American College of Obstetricians and Gynecologists,&lt;ref&gt;&lt;pubmed&gt;20664398&lt;/pubmed&gt;&lt;/ref&gt; 31, 138 women were that were included in the investigation showed that 2.2% developed preeclampsia and 2.8% developed gestation hypertension. Only 7.8% of those individuals had previously had CVS procedure performed. <br /> <br /> Although it can be said that some woman may develop hypertensive disorders during pregnancy that have also had the CVS procedure done in the past, there is no conclusive evidence so far that definitively associates CVS with hypertensive disorders such as pre-clampsia and gestation hypertension.<br /> <br /> ====Malformations====<br /> [[File:Craniosynostosis_.jpg|right|250 px]]<br /> <br /> <br /> Many malformations were thought to be a result of more invasive prenatal diagnostic techniques such as chorionic villus sampling. These malformations include, but are not limited to, cardiac malformations, hypospadias, craniosynostosis, pyloric stenosis, inguinal hernia, polydactyly, syndactyly, hydrocephalus and cleft lip and palate. Although these studies have now confirmed no known relationship with CVS, we will mention some below. &lt;ref&gt;&lt;pubmed&gt;7937577&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> '''Craniosynostosis''' is a condition where one of the sutures of the skull prematurely fuses, this causes the other sutures to compensate in growth for the fused suture. In normal development of the skull, the sutures allow for brain growth, so if one suture fuses prematurely, the brain can not grow normally, and the other sutures over expand in compensation. In the shown image, pictures a1 and a2 show the normal development and fusing of the infant skull. b2 shows how a suture is prematurely fused and b1 shows how the abnormality shows in an infant child.<br /> Craniosyntosis may result in increased pressure on the brain and developmental delays. Treatment of craniosynostosis usually consists of surgery to the skull where a zigzag incision is made to make the hair look more natural than the scar left by a straight incision. The surgery separates the sutures that have joined together to allow the head to develop normally.<br /> <br /> &lt;ref&gt;Silver, R.K., Macgregor, S.N., Muhlbach, L.H., Knutel, T.A. &amp; Kambich, M.P. 1994, &quot;Congenital malformations subsequent to chorionic villus sampling: Outcome analysis of 1048 consecutive procedures&quot;, Prenatal diagnosis, vol. 14, no. 6, pp. 421-427. &lt;/ref&gt;<br /> <br /> [[File:Polydactyly.jpg|left|200 px]]<br /> '''Polydactyly''' is a congenital condition where an extra digit is formed. Mostly it occurs on only one hand or foot, but sometimes can occur on all limbs. The extra digit is mostly a small non-function appendage of skin, less often it is an extension of the adjacent digit, and rarely it is a fully functioning finger that arises from the wrist or ankle joint like the other digits. Polydactyly can be described as: <br /> <br /> ● postaxial polydactyly (arising from the little finger)<br /> <br /> ● preaxial polydactyly (arising from the thumb) or<br /> <br /> ● central polydactyly (arising from anywhere between the other digits)<br /> <br /> Polydactyly is seen in 1 in every 500 births, but the extra digit is usually surgically removed shortly after birth<br /> &lt;ref&gt;&lt;pubmed&gt;20661588&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> [[File:Syndactyly2.JPG|left|200 px]]<br /> '''Syndactyly''' is also a congenital condition, but is seen when digits are fused together. Syndactyly can be described as:<br /> <br /> ● simple syndactyly (where only skin is fused to the adjacent finger)<br /> <br /> ● complex syndactyly (where the bone is fused together)<br /> <br /> ● incomplete syndactyly (where fusion is only part of the way up the digit), and,<br /> <br /> ● complete syndactyly (where fusion is to the tip of the digit)<br /> <br /> The picture on the left shows an example of polysyndactyly, where the digits are both fused, and there is an extra digit.<br /> &lt;ref&gt;&lt;pubmed&gt;20811188&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> <br /> <br /> <br /> <br /> ====Hemangiomas====<br /> <br /> [[File:Capillary_haemangioma.jpg|thumb|200px|right|Hemangioma]]<br /> <br /> A hemangioma is a benign tumour growth of endothelial cells that can occur in newborns and infants. Hemangiomas can occur anywhere in the body but are often localised on the skin of the face and neck, and are characterised by a red to reddish purple raised lesion on the skin, similarly to a &quot;strawberry&quot; like appearance. Its red appearance is due to the newly formed blood vessels, which result from the malformation of angioblastic tissues of fetal life.&lt;ref&gt;&lt;pubmed&gt;7063565&lt;/pubmed&gt;&lt;/ref&gt; <br /> Most hemangiomas do not cause any serious complications, and regress later on in life, where 90% of hemangiomas in children would disappear by the age of 9. <br /> <br /> Recently, research has linked the increase in the incidence of hemangiomas in infants following CVS. It has been postulated that the mechanism of hemangioma formation is associated with the embolisation of angioblasts or endothelial cells from the placenta to the fetal skin.&lt;ref&gt;&lt;pubmed&gt;19218861&lt;/pubmed&gt;&lt;/ref&gt; Although this may link hemangiomas to placental origin, it is unclear how, or whether CVS directly interferes or enhances the formation of these lesions. However, a recent study that compared the effects of CVS and amniocentesis on the prevalence of hemangiomas in infants showed that 27% of the study group had hemangiomas with CVS compared to 9.4% in children with hemangiomas and amniocentesis. &lt;ref&gt;&lt;pubmed&gt;20824891&lt;/pubmed&gt;&lt;/ref&gt; Furthermore, in an previous study conducted in 1995, there was a threefold increase in incidence after trancervical procedure was done, compared to amniocentesis.&lt;ref&gt;Lo, K., Mihm, M. &amp; Fay, A. 2009, &quot;Current Theories on the Pathogenesis of Infantile Hemangioma&quot;, Seminars in ophthalmology, vol. 24, no. 3, pp. 172-177. &lt;/ref&gt;&lt;ref&gt;&lt;pubmed&gt;7784377&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> =Future of Chorionic Villus Sampling=<br /> <br /> =Useful links=<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Wikipedia'''[http://en.wikipedia.org/wiki/Chorionic_villus_sampling Chorionic villus sampling]<br /> <br /> '''Fact sheets''' [http://www.thewomens.org.au/ChorionicVillusSamplingCVS Chorionic villus sampling]<br /> <br /> '''Images''' [http://www.google.com.au/images?q=chorionic+villus+sampling&amp;oe=utf-8&amp;rls=org.mozilla:en-US:official&amp;client=firefox-a&amp;um=1&amp;ie=UTF-8&amp;source=univ&amp;ei=yCWcTKT-NsircY-nzNEJ&amp;sa=X&amp;oi=image_result_group&amp;ct=title&amp;resnum=4&amp;ved=0CD4QsAQwAw&amp;biw=1280&amp;bih=615 Chorionic villus sampling]<br /> <br /> '''You tube video of procedure''' [http://www.youtube.com/watch?v=0XUZsvTkEnw Chorionic villus sampling]<br /> <br /> =Glossary=<br /> <br /> '''Amniocentesis''' - A prenatal diagnostic test involving sampling of amniotic fluid by needle aspiration for genetic analysis.<br /> <br /> '''Amnion''' - An extraembryonic membrane ectoderm and extraembryonic mesoderm in origin and forms the innermost fetal membrane, produces amniotic fluid. This fluid-filled sac initially lies above the trilaminar embryo disc and with embryoic disc folding this sac is drawn ventrally to enclose (cover) the entire embryo, then fetus.<br /> <br /> '''Amniotic cavity''' - The fluid-filled (amniotic fluid) extraembryonic coelom (cavity) formed initially by epiblast and then ectoderm and surrounding extraembryonic mesoderm. In humans, it forms the innermost fetal membrane, produces amniotic fluid expanding to fuse with the chorionic membrane during week 8 of development.<br /> <br /> '''Amniotic fluid''' - The fluid that fills amniotic cavity totally encloses and cushions the embryo.<br /> <br /> '''Cannula''' - A flexible medical tube with a sharp-pointed part at one end that is inserted into a duct, vein, or cavity in order to drain away fluid or to administer drugs<br /> <br /> '''Chorion''' - The extraembryonic membrane generated from trophoblast and extraembryonic mesoderm that forms placenta. chorion and amnion are made by the somatopleure. The chorion becomes incorporated into placental development. The avian and reptilian chorion lies beside the egg shell and allows gas exchange.<br /> <br /> '''Chorionic villus sampling (CVS)''' - The taking a biopsy of the placenta, usually at the end of the second month of pregnancy, to test the fetus for genetic abnormalities.<br /> <br /> '''Chromosome''' - double stranded DNA coiled around histones. Condenses during mitosis and meiosis.<br /> <br /> '''Ectoderm''' - One of the initial 3 germ cell layers, which will form the nervous system from the neural tube and neural crest and also generates the entire epithelial layer of the skin covering the embryo.<br /> <br /> '''Endoscope''' - a long slender medical instrument for examining the interior of a bodily organ or performing minor surgery<br /> <br /> '''Endoderm''' - One of the initial 3 germ cell layers (ectoderm, mesoderm and endoderm) formed by the process of gastrulation. The endoderm forms as a cuboidal epithelium and contributes not only to the trilaminar embryo, but also lines the yolk sac. It will form the entire epithelial lining of the gastrointestinal tract (GIT), contribute to the accessory organs of GIT and also forms the epithelial lining of the respiratory tract.<br /> <br /> '''Fetus''' - In mammals, term describes the period of development following the embryonic period. In humans, the development week 9 to 36 is the fetal stage (second and third trimester). (see fetal period above). This term is also used non-scientifically to describe the human conceptus at both embryonic and fetal stages of development.<br /> <br /> '''Gene''' - A DNA sequence that is transcribed as a single unit and encodes a single polypeptide (protein) or a set of closely related polypeptides. There are approximately 20,000-25,000 protein encoding genes in the human genome. In each cell, DNA is found within the nucleus and also within mitochondria.<br /> <br /> '''Gestation''' - The period of time from conception to birth. A pregnancy with multiple fetuses is referred to as a multiple gestation.<br /> <br /> '''Mesoderm''' - The middle layer of the 3 germ cell layers of the trilaminar embryo.<br /> <br /> '''Miscarriage''' - A general clinical term for the loss of embryo or fetus by spontaneous abortion.<br /> <br /> '''Mitosis''' - The normal division of all cells, except germ cells, where chromosome number is maintained (diploid). <br /> <br /> '''Prenatal diagnosis''' - any of the diagnostic procedures used to determine whether a fetus has a genetic abnormality<br /> <br /> '''Tenaculum''' - instrument used to grasp the cervix and keep the uterus in place during gynecological procedures.<br /> <br /> '''Termination''' - The spontaneous or artificially induced expulsion of an embryo or fetus. As used in legal context, the term usually refers to induced abortion.<br /> <br /> '''Transabdominal''' - In the transabdominal CVS technique, the physician inserts a needle through the abdomen into the placenta. This is also done with ultrasound, to guide the physician<br /> <br /> '''Transcervical''' - In the transcervical CVS technique, the physician inserts a small tube through the cervix into the placenta. This is done while ultrasound guides the physician<br /> <br /> '''Ultrasound''' - A non-invasive technique for visualizing and prenatal diagnosis of several features of development including: follicles in the ovaries, the gestational sac, fetus in the uterus, fetal parameters, and the placenta. The technique uses high-frequency sound waves that are reflected off internal structures. These reflections can then be analysed and displayed by computer.<br /> <br /> '''Villi''' - Plural of villus, which is a thin projection from a surface. A term used to describe the many functional units together of the fetal placenta. <br /> <br /> '''Vitelline arteries and veins''' - The blood vessels which form in the extraembryonic mesoderm of the yolk sac and anastomose are called vitelline arteries (flow away from the embryo) and vitelline veins (flow toward the embryo).<br /> <br /> ==Prenatal Diagnosis Terms==<br /> <br /> '''false negative rate''' - The proportion of pregnancies that will test negative given that the congenital anomaly is present.<br /> <br /> '''false positive rate''' - The proportion of pregnancies that will test positive given that the congenital anomaly is absent.<br /> <br /> '''negative predictive value''' - The probability that a congenital anomaly is absent given that the prenatal screening test is negative.<br /> <br /> '''positive predictive value''' - The probability that a congenital anomaly is present given that the prenatal screening test is positive.<br /> <br /> '''pre-implantation genetic diagnosis''' - (PGD) a screening procedure for embryos produced through in vitro fertilisation (IVF) for genetic diseases that would generate developmental abnormalities or serious postnatal diseases.<br /> <br /> '''prenatal screening sensitivity''' - (detection rate) The probability of testing positive on a prenatal screening test if the congenital anomaly is present.<br /> <br /> '''prenatal screening specificity''' - The probability of testing negative on a prenatal screening test if the congenital anomaly is absent.<br /> <br /> <br /> ==Glossary Links==<br /> <br /> :[[A|A]] | [[B|B]] | [[C|C]] | [[D|D]] | [[E|E]] | [[F|F]] | [[G|G]] | [[H|H]] | [[I|I]] | [[J|J]] | [[K|K]] | [[L|L]] | [[M|M]] | [[N|N]] | [[O|O]] | [[P|P]] | [[Q|Q]] | [[R|R]] | [[S|S]] | [[T|T]] | [[U|U]] | [[V|V]] | [[W|W]] | [[X|X]] | [[Y|Y]] | [[Z|Z]] | [[Numbers|Numbers]]<br /> <br /> =References=<br /> &lt;references/&gt;<br /> <br /> == 2010 ANAT2341 Group Projects ==<br /> <br /> [[2010_Group_Project_1|Project 1 - Ultrasound]] | [[2010_Group_Project_2|Project 2 - Chorionic villus sampling]] | [[2010_Group_Project_3|Project 3 - Amniocentesis]] | [[2010_Group_Project_4|Group Project 4 - Percutaneous Umbilical Cord Blood Sampling]] | [[2010_Group_Project_5|Project 5 - Fetal Fibronectin]] | [[2010_Group_Project_6|Project 6 - Maternal serum alpha-fetoprotein]] | [[ANAT2341_2010_Students|Students Page]]<br /> <br /> <br /> {{Template:Footer}}<br /> [[Category:2010ANAT2341]] [[Category:Science-Undergraduate]]</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=File:Enzyme_immunoassay.jpg&diff=38319 2010-09-26T10:55:35Z

<p>Z3265772: </p> <hr /> <div>Procedures in the enzyme immunoassay of AFP conducted in Maternal serum AFP screening.<br /> <br /> z3254433<br /> <br /> &quot;Beginning six months after publication, I (z3254433) grant the public the non-exclusive right to copy, distribute, or display the Work under a Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported license, as described at http://creativecommons.org/licenses/by-nc-sa/3.0/ and http://creativecommons.org/licenses/by-nc-sa/3.0/legalcode.&quot;<br /> <br /> Note that permission was given to group project 2 to use this image on their page</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=2010_Group_Project_2&diff=38309 2010-09-26T09:36:12Z

<p>Z3265772: /* Useful links */</p> <hr /> <div>[[File:Embryo_11-14_weeks.jpg|right|400 px]]<br /> <br /> ='''Chorionic Villus Sampling (CVS)'''=<br /> <br /> =Introduction=<br /> <br /> [[Image:Gray31.png|thumb|350px|right|Grays]]<br /> <br /> <br /> Chorionic villus sampling or CVS is a type of prenatal diagnosis test performed in the first trimester to detect major fetal abnormalities such as down syndrome, cystic fibrosis and tay-sachs disease, among many others. In the procedure, tissue is withdrawn from small finger like projections on the placenta called chorionic villi and tested for chromosomal defects. It is commonly performed between 10 and 12 weeks of pregnancy. <br /> The advantage of CVS over other procedures is that the result is available approx 6 weeks earlier in the pregnancy, so if a termination is needed, it can be done earlier which is much safer, rather than later in the pregnancy, which can carry more risks. &lt;ref&gt;Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., de, l.C., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Lubs, H.A., Mahoney, M.J., Pergament, E., Simpson, J.L., Carpenter, R.J., Elias, S., Ginsberg, N.A., Goldberg, J.D., Hobbins, J.C., Lynch, L., Shiono, P.H., Wapner, R.J. &amp; Zachary, J.M. 1989, &quot;The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities&quot;, New England Journal of Medicine, vol. 320, no. 10, pp. 609-617.&lt;/ref&gt;<br /> <br /> ''Reasons for getting chorionic villus sampling can include:''<br /> <br /> -History of genetic disorders in the family<br /> <br /> -Parents have already had a child with a disorder such as down syndrome or cystic fibrosis<br /> <br /> -Abnormal ultrasound result<br /> <br /> -Maternal age of 35 or older, which increases the risk of chromosomal defects such as down syndrome<br /> <br /> <br /> =Historic background=<br /> <br /> <br /> '''Brief timeline of CVS use'''<br /> <br /> *1968 - Mohr in Scandinavia introduced the concept of prenatal diagnosis using chorionic villi sampling &lt;ref&gt;&lt;pubmed&gt;5691288&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1973 - Kullander and Sandahl and Hahnemann in 1974 showed further study into chromosomal analysis from CVS &lt;ref&gt;&lt;pubmed&gt;4766093&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1975 - from the Department of Obstetrics and Gynaecology at the Tietung Hospital in Anshan, China was successful in using CVS to determine sex of fetuses for sex pre selection. &lt;ref&gt;&lt;pubmed&gt;811431&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1980 - Kazy et al. were the first to use ultrasound guidance during chorionic villi sampling. &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1981 - Niazi et al. improved methods for culturing of fibroblasts from trophoblast villi. &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1983 - Ward performed transcervical CVS with 67% success rate. In the same year, the Brombati group demonstrated and 96% success rate with obtaining villi with the aid of ultrasound guidance &lt;ref&gt;&lt;pubmed&gt;6463023&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1984 - Smidt-Jensen and Hahnemann introduced transabdominal CVS under ultrasound guidance &lt;ref&gt;&lt;pubmed&gt;4088973&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1986 - The Golbus group had a 3.8% miscarriage rate, and subsequently many other clinics started reporting a much lower rate of miscarriage at 1.7% making the procedure safe for routine use &lt;ref&gt;&lt;pubmed&gt;3717235&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> ===Jan Mohr (1921-2009)===<br /> [[Image:Jan_Mohr.jpg|thumb|200px|left|Jan Mohr]]<br /> <br /> <br /> '''1968 -- Concept of CVS introduced'''<br /> <br /> In 1968 Jan Mohr introduced the concept of prenatal diagnosis using the CVS technique. &lt;ref&gt;&lt;pubmed&gt;5691288&lt;/pubmed&gt;&lt;/ref&gt; He used the transcervical method to get a biopsy of the chorion using an endoscope as the source of vision. The current technique differs by using mostly transabdominal access with ultrasound instead of an endoscope. He reported a 96% success rate in obtaining chorionic material but with a high incidence of bleeding and infection. The approach was abandoned as amniocentesis became more popular due to higher safety levels<br /> <br /> <br /> <br /> '''1973-1975 -- Further study into chromosomal analysis from CVS'''<br /> <br /> Kullander and Sandahl in 1973 and Hahnemann in 1974 further researched fetal chromosome analysis using transcervical biopsy before termination in early pregnancies. &lt;ref&gt;&lt;pubmed&gt;4766093&lt;/pubmed&gt;&lt;/ref&gt; In 1975 the first successful diagnostic use of chorionic villi was reported at the Tietung Hospital in China. &lt;ref&gt;&lt;pubmed&gt;811431&lt;/pubmed&gt;&lt;/ref&gt; This is where fetal sex was diagnosed for the purpose of sex pre-selection. They claimed to have 94% diagnosis success and only 4% miscarriage rate. Researchers in the United States were, however unable to duplicate the results and so the idea of CVS diagnosis was again abandoned for some time.<br /> <br /> <br /> '''1980-1983 -- Change from endoscopic examination to ultrasound to guide CVS'''<br /> <br /> With the invention of the ultrasound and advancement in molecular genetics, an earlier prenatal diagnosis was now sought after. So Kazy et al. in 1980, began using both the endoscope and the ultrasound for fetal sexing on chorion biopsies. This was the first report of using ultrasound guidance during chorion sampling. After Kazy et.al. began using the ultrasound for guidance, many others followed. Niazi et al., Ward and the Brombati group all started using ultrasound guided CVS. Techniques quickly improved and success rate of obtaining chorionic material rose from 75% to 96% &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> '''1984-1986 -- The introduction of transabdominal CVS'''<br /> <br /> In 1984, Smidt-Jensen and Hahnemann in Copenhagen introduced transabdominal CVS using ultrasound guidance. &lt;ref&gt;&lt;pubmed&gt;6463023&lt;/pubmed&gt;&lt;/ref&gt; With less chance of infective complications the procedure has become more popular than the transcervical method in many prenatal diagnostic centers. Other ultrasonic techniques and modifications were explored by the Brambati and Simoni group and the Golbus group in 1985. &lt;ref&gt;&lt;pubmed&gt;4088973&lt;/pubmed&gt;&lt;/ref&gt; The Golbus group reported in 1986 a miscarriage rate of 3.8%. &lt;ref&gt;&lt;pubmed&gt;3717235&lt;/pubmed&gt;&lt;/ref&gt; Subsequently, many other centres reported a much lower miscarriage rate of 1.5% which made the procedure safe for routine use.<br /> <br /> ==Table Comparing Prenatal Diagnosis Techniques==<br /> <br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ This table shows invasiveness and timeframe for some prenatal diagnostic techniques<br /> ! Invasiveness !! Diagnostic technique !! Comments !! Time Frame !! Diagram<br /> |-<br /> |Non Invasive<br /> |[[2010_Group_Project_1|Ultrasound]]<br /> |'''Tests for:''' neural tube defects, chromosomal abnormalities and congenital heart abnormalities<br /> <br /> '''Risks:''' No risks currently indicated for ultrasound use in prenatal diagnosis. <br /> <br /> This test uses high frequency sound waves through a transmitting device, which construct a picture of the fetus when the waves are reflected and received back by the transmitter. Due to no known risks, ultrasound use is used routinely in pregnancies and is the first port of call for prenatal diagnosis. If a potential abnormality is found or the parents are high risk, then a more invasive diagnostic technique may be recommended. The type of diagnostic technique used depends on the potential abnormality found. &lt;ref&gt;Kremkali, F.W. (2006) Diagnostic Ultrasound Principles and Instruments (7th ed.) St Louis: Saunders Elsevier. pp3-5&lt;/ref&gt;[[2010_Group_Project_1|More about Ultrasound]]<br /> |Weeks 18-20<br /> |[[File:ZConvex_Array_Transducer.jpg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> |'''Tests for:''' chromosomal abnormalities and genetic abnormalities <br /> <br /> '''Risks:''' Miscarriage (1%), some of the side effects include dizziness, abdominal discomfort, cramping, haemorrhage, infection, ruptured amniotic sac, increased risk of limb defects if the test was performed at nine weeks’ gestation or earlier &lt;ref&gt;Alfirevic, Z., K. Sundberg, et al. 2008. &quot;Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review).&quot; Cochrane Database of Systematic Reviews 4: 1-134.&lt;/ref&gt;<br /> <br /> With the guidance of Ultrasound, a needle is inserted in to the abdomen or through the cervix and a small sample of chorionic villi from the placenta are obtained. This sample is sent to a cytogenetics laboratory where the cells are cultured and stained, and photographed to view chromosomes <br /> |Weeks 10-12<br /> |[[File:Transabdominal_CVS.jpg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_3|Amniocentesis ]] <br /> |'''Tests for:''' chromosomal abnormalities, fetal infections, and genetic abnormalities<br /> <br /> '''Risks:''' Miscarriage &lt;1%, stillbirths 3%, and small risk of infection. &lt;ref&gt;&lt;pubmed&gt;PMC2464303&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> A needle is inserted in to the uterus where a sample of the amniotic fluid surrounding the fetus is taken. This procedure is usually done with the guidance of ultrasound so the physician can see where the needle is being inserted. The amniotic fluid is analysed for abnormalities. [[2010_Group_Project_3|More about Amniocentesis ]]<br /> |Weeks 15-16<br /> |[[File:Process_of_amniocentesis.jpeg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_4|Percutaneous Umbilical Cord Blood Sampling]]<br /> |'''Tests for:'''chromosomal abnormalities, blood disorders, some metabolic disorders, fetal infections, and some causes of structural problems.<br /> <br /> '''Risks:'''Miscarriage &lt;2%, Preterm labour, fetal bradycardia, bleeding of the umbilical cord. &lt;ref&gt;&lt;pubmed&gt;16530195&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> A small needle is inserted in to the abdomen of the mother and a sample of blood is taken from the umbilical vein in the umbilical cord. This technique is often used when other diagnostic techniques are inconclusive, but should be used with caution as carries higher risk rates. The benefit of Percutaneous Umbilical Cord Blood Sampling is that the results are available much faster, within 72 hours of testing. CVS and amniocentesis tests need culturing and therefore take up to 11 days for a result. [[2010_Group_Project_4|More about Percutaneous Umbilical Cord Blood Sampling]]<br /> |Weeks 18-22<br /> |[[File:Placenta_Anterior.jpg|right|150 px]]<br /> |-<br /> |Less Invasive<br /> |[[2010_Group_Project_5|Fetal Fibronectin]]<br /> |'''Tests for:'''determines the likelihood of premature birth in women of high risk<br /> <br /> '''Risks:'''No known risks for the testing of Fetal Fibronectin, as is it less invasive than other techniques.<br /> <br /> Fetal Fibronectin is only found in the uterus until the onset of labour when is secretes in through the cervix. In this procedure, a sample of the cervico-vaginal secretions are taken and sent to the lab for testing. If the test comes out positive for Fetal Fibronectin in the vagina, the mother has a chance of going into premature labour. [[2010_Group_Project_5|More about Fetal Fibronectin]]<br /> |Weeks 24-34<br /> |<br /> |-<br /> |Non Invasive<br /> |[[2010_Group_Project_6|Maternal serum alpha-fetoprotein]]<br /> |'''Tests for:'''AFP is a type of screening test and do not diagnose problems, but signal whether further testing is needed. Normal AFP levels are increased in Neural Tube Defects and Omphalocoele &amp; decreased in Down Syndrome.<br /> <br /> '''Risks:'''No known risks as Maternal serum alpha-fetoprotein is non invasive<br /> <br /> A blood sample is taken from the mother and alpha-fetoprotein levels are measured in the lab. These measurements can determine the risk level of certain abnormalities in the fetus. The advantage is that it is non invasive, but the disadvantage is that it has a very high false positive rate, so many mothers have gone on to have amniocentesis or chorionic villus sampling to find nothing is wrong with the baby. This can be overcome by having another alpha-fetoprotein test before getting amniocentesis or chorionic villus sampling. [[2010_Group_Project_6|More about Maternal serum alpha-fetoprotein]]<br /> |Weeks 15-20<br /> |[[File:Enzyme_immunoassay.jpg|right|150 px]]<br /> |-<br /> |}<br /> <br /> =Description of technique=<br /> <br /> [[File:transabdominal_CVS.jpg|right|thumb|280px|Transabdominal Technique]]<br /> [[File:transcervicalCVS.jpg|right|thumb|280px|Transcervical Technique]]<br /> <br /> CVS can be performed in two ways, through the cervix (transcervical) or through the abdomen (transabdominal). Both techniques are equally safe when performed by an experienced technician, however miscarriage rates are somewhat higher when done through the cervix. Prior to the procedure, an abdominal ultrasound can be performed to locate the position of the uterus, and the placenta. A full bladder is not required. Depending on the type of method performed, the vulva, vagina, cervix or abdomen are cleaned with antiseptic. The procedure normally takes only 1-2 minutes to perform and the patient is able to leave the clinic within the hour after the fetus is checked.&lt;ref&gt;Melbourne Ultrasound for Women. Chorionic Villus Sampling. Accessed 5 September 2010. http://www.nevdgp.org.au/info/melb_us/cvs_melb.htm&lt;/ref&gt; <br /> <br /> <br /> <br /> ===Transabdominal Procedure===<br /> <br /> # A local anaesthetic is first applied to the abdomen.&lt;br&gt;<br /> # A thin hollow needle is then inserted through the abdomen into the uterus and into the edge of the placenta where the chorion is located. An ultrasound transducer is commonly used to guide the needle during the procedure. &lt;br&gt;<br /> # A finer syringe needle is then passed through the outer needle, and the tissue is then drawn.&lt;br&gt;<br /> # The sample is taken to the laboratory for testing. <br /> <br /> ===Transcervical Procedure===<br /> # A speculum is inserted in the vagina and the area is cleaned with antiseptic.&lt;br&gt;<br /> # With the help of ultrasound imaging, a thin cannula is then inserted through the cervix and uterus and into the placenta.&lt;br&gt;<br /> #The tissue sample is then taken up through the cannula.&lt;br&gt;<br /> &lt;ref&gt;&lt;pubmed&gt;20154617&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> After the sample is taken to the laboratory, the cells are grown until there are enough cells for chromosome testing. The results normally take up to 2 weeks to complete.<br /> <br /> ===Complications===<br /> <br /> Some of the side effects and complications after a CVS procedure can include:<br /> <br /> * Dizziness <br /> * Abdominal discomfort<br /> * Cramping<br /> * Haemorrhage<br /> * Infection<br /> * Ruptured amniotic sac<br /> * Increased risk of limb defects if the test was performed at nine weeks’ gestation or earlier<br /> * Premature delivery<br /> &lt;ref&gt;Alfirevic, Z., K. Sundberg, et al. 2008. &quot;Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review).&quot; Cochrane Database of Systematic Reviews 4: 1-134.&lt;/ref&gt;<br /> <br /> Additional complications can involve technical errors such as failure of the specimen to grow sufficiently in the laboratory and uncertain laboratory results. If this occurs, amniocentesis is still an option after 15 weeks.<br /> <br /> ===Results and Accuracy===<br /> <br /> The accuracy of CVS to detect chromosome abnormalities is quite high, at around 98-99% &lt;ref&gt;Hall, Judith G. &quot;Chromosomal Clinical Abnormalities.&quot; In Nelson Textbook of Pediatrics. Edited by Richard E. Behrman et al. Philadelphia: Saunders, 2004.&lt;/ref&gt;. Although it has a high accuracy rate to diagnose most major chromosomal problems, CVS does have some limitations. Having A negative result for an abnormality does not rule out ALL genetic defects the baby may have. Comparatively to amniocentesis, CVS does NOT detect neural tube defects such as spina bifida, or anencephaly. <br /> The type of chromosome abnormalities detected by CVS will be further discussed in detail below.<br /> <br /> ===Limitations===<br /> [[file:Double_tetrasomy_18_mosaicism.jpg‎|thumb|250 px|Example of a child with double tetrasomy 18+ mosaicism.]]<br /> <br /> '''Maternal contamination'''<br /> <br /> Since the villus sample also involves maternal cells, there is a possibility that they may take over the laboratory culture instead, consequently leading to the mother's cells being tested instead of the fetus's cells. The risk of this happening is low however and is decreased when the sample contains an adequate amount of fetal cells.<br /> <br /> <br /> '''Mosaicism'''<br /> <br /> &quot;Mosaicism&quot; occurs when both abnormal and normal cells are found in the chorionic villi. Mosaicism can involve both the fetus (true fetal mosaicism) and the placental tissues or the placental tissues alone. When this happens, cells that multiply from these abnormal cells may develop a chromosome anomaly.<br /> What can result is that in certain body organs the fetus has a combination of cells that are abnormal and normal in genetic structure. <br /> The rate of the placental type occuring is found in 1-2% of pregnancies detected by CVS.&lt;ref&gt;&lt;pubmed&gt;9316125&lt;/pubmed&gt;&lt;/ref&gt; When mosaicism is detected by CVS, the limitation lies in the inability to conclude that the baby itself and not just the placental tissues will share the mosaicism. Even if the baby is affected, it will be unclear as to what percentage of the fetal cells and the type of organs that will be affected.&lt;ref&gt;Trofatter. K.F. 2008. Chromosomal Mosaicism Detected at the Time of Chorionic Villus Sampling. Accessed on 15 September 2010. http://www.healthline.com/blogs/pregnancy_childbirth/2008/03/chromosomal-mosaicism-detected-at-time.html&lt;/ref&gt;<br /> <br /> =Risks=<br /> <br /> <br /> When Chorionic Villus Sampling is performed, a small sample of the placenta is removed for analysis. The placenta contains fetal material, therefore can reveal genetic defects which may lead to problems or abnormalities. &lt;ref&gt;&lt;pubmed&gt;20664398&lt;/pubmed&gt;&lt;/ref&gt; This prenatal test can be performed as early as 11 weeks into the pregnancy, this is earlier than many prenatal diagnosis tests, which is why many parents choose CVS as they can have solid information earlier in the pregnancy. Some common risks which are not under current research include: Cramping, light blood spotting, pain, fever and chills, leakage (which can be a major concern as it can lower amniotic fluid to a dangerous level for the infant), and potential for missing fingers and toes in the newborn. For this reason, the procedure is only recommended for women who are at least 11 weeks pregnant. &lt;ref&gt;&lt;pubmed&gt;20051662&lt;/pubmed&gt;&lt;/ref&gt; The other major risks that are currently being researched are outlined below<br /> <br /> ====Transabdominal vs Transcervical CVS. Comparison of risks====<br /> <br /> <br /> [[File:CVS_Table.jpg|left|thumb|280px|Transabdominal vs Transcervical risks]]<br /> <br /> This table shows the symptoms of women approximately 3 days after sampling. The table shows women who had undergone transcervical sampling had higher frequencies of fluid leakage, vaginal spotting, and bleeding. When a tenaculum is not used, the frequency of vaginal spotting and bleeding persisted in the transcervical-sampling group. Only two women, both in the transcervical-sampling group, had a temperature above 38°C. &lt;ref&gt;Jackson, L.G., Zachary, J.M., Fowler, S.E., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Mahoney, M.J., Pergament, E., Simpson, J.L., Black, S. &amp; Wapner, R.J. 1992, &quot;A Randomized Comparison of Transcervical and Transabdominal Chorionic-Villus Sampling&quot;, New England Journal of Medicine, vol. 327, no. 9, pp. 594-598.&lt;/ref&gt;<br /> <br /> <br /> ====Miscarriage====<br /> <br /> One of the biggest risks of Chorionic Villus Sampling is miscarriage. In one to 100 or 200 cases, the procedure is linked with miscarriage. &lt;ref&gt;&lt;pubmed&gt;19155918&lt;/pubmed&gt;&lt;/ref&gt; In an experienced clinic, this rate may go down to one in 300 to 400. To lower the risk of miscarriage with Chorionic Villus Sampling, it is recommended the procedure be performed by an experienced clinician<br /> <br /> <br /> ====Oligohydramnios====<br /> <br /> Oligohydramnios is a condition due to low amniotic fluid level, which is caused by amniotic fluid leakage. Amniotic fluid leakage is typically caused by fetal urinary tract abnormalities such as Potter's syndrome, polycystic kidneys, or genitourinary obstruction. But leakage can sometimes be caused by sampling of the chorionic villi due to insertion of the needle. If the resulting oligohydramnios is not treated and the amniotic fluid continues to leak it can result in the baby developing hypoplastic lungs (underdeveloped lungs). &lt;ref&gt;&lt;pubmed&gt;17694578&lt;/pubmed&gt;&lt;/ref&gt;&lt;br&gt;&lt;br&gt;<br /> <br /> <br /> '''Why would you use CVS over other techniques?'''<br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ Advantages and Disadvantages of Chorionic Villus Sampling<br /> ! Advantages !! Disadvantages <br /> |-<br /> |Can be performed earlier in pregnancy than amniocentesis (at around ten weeks).<br /> <br /> Results are available faster<br /> <br /> Cells obtained are mitotically active<br /> <br /> Amount of tissue obtained is preferable for DNA analysis.<br /> <br /> It is almost 100% reliable in detecting chromosomal and genetic defects.<br /> |It carries a slightly higher risk of miscarriage (1%-2%) than does amniocentesis<br /> <br /> It's less commonly available than amniocentesis, and fewer doctors are experienced in the procedure.<br /> <br /> It entails a greater risk of distorted results than does amniocentesis due to presence of mother's cells in the sample and discrepancies between chorionic villi and fetal genes.<br /> <br /> Metabolic disorders are difficult to diagnose and must be confirmed with amniocentesis.<br /> <br /> Because of the early gestational age at which the test is performed, fetal anatomy cannot be seen as well as it can at the time amniocentesis is performed.<br /> |-<br /> |}<br /> &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt;<br /> <br /> =Abnormalities found by CVS prenatal diagnostic technique=<br /> <br /> [[File:Down-normal.gif|right|thumb|280px|Normal]]<br /> <br /> [[File:Down-extra.gif|right|thumb|280px|third copy of chromosome 21]]<br /> <br /> The cells collected by CVS are sent to a cytogenetics laboratory. There the cells are cultured (stimulated to grow and divide) for 10-14 days. After enough cells are obtained, a banded karyotype is performed. This means that the fetal chromosomes in the cultured cells are stained and subsequently photographed. The photographed chromosomes are then ordered by number, counted and checked for structural abnormalities. There should be 46 chromosomes, 23 pairs. A boy's karyotype is described as 46,XY and a girl's karyotype is described as 46,XX.&lt;ref&gt;Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., de, l.C., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Lubs, H.A., Mahoney, M.J., Pergament, E., Simpson, J.L., Carpenter, R.J., Elias, S., Ginsberg, N.A., Goldberg, J.D., Hobbins, J.C., Lynch, L., Shiono, P.H., Wapner, R.J. &amp; Zachary, J.M. 1989, &quot;The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities&quot;, New England Journal of Medicine, vol. 320, no. 10, pp. 609-617. &lt;/ref&gt;<br /> <br /> <br /> <br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ This table shows what disorders CVS detects, the cause, frequency and any comments<br /> ! Disorder !! Cause !! Comments !! Frequency !! Picture <br /> |-<br /> |[[ Trisomy 21 | Down Syndrome ]]<br /> |A third copy of chromosome 21<br /> <br /> Normally, there are only two copies of this chromosome<br /> |The average IQ of children with Down syndrome is around 50, compared to normal children with an IQ of 100. Complications for people with down syndrome include: congenital heart defects, gastroesophageal reflux disease, recurrent ear infections, obstructive sleep apnea, and thyroid dysfunctions. &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt; The picture shows a newborn infant with Down Syndrome (Trisome 21)<br /> |Approximately 1 in 1,000 births &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt;<br /> |[[File:Trisomy_21_newborn.jpg|right|200 px]]<br /> |-<br /> |[[ Trisomy 13 | Trisomy 13 ]]<br /> |A third copy of chromosome 13<br /> <br /> Normally, there are only two copies of this chromosome<br /> |Also called Patau syndrome. This abnormality causes mental and motor abnormalities, polydactyly (extra digits), kidney defects, abnormal genitalia and heart defects, among many others. &lt;ref&gt;Driscoll, D.A. &amp; Gross, S. 2009, &quot;Prenatal Screening for Aneuploidy&quot;, New England Journal of Medicine, vol. 360, no. 24, pp. 2556-2562. &lt;/ref&gt; The picture shows an infant with polydactyly, a potential complication of Trisome 13<br /> |Less than 1% <br /> |[[File:220px-Patauhand.PNG|right|200 px]]<br /> |-<br /> |[[ Trisomy 18 | Trisomy 18 ]]<br /> |A third copy of chromosome 18<br /> <br /> Normally, there are only two copies of this chromosome<br /> |Also known as Edwards syndrome. It has a very low survival rate, due to: kidney and heart defects, intestines protruding outside the body, mental abnormalities, growth disorders, feeding and breathing difficulties. &lt;ref&gt;Driscoll, D.A. &amp; Gross, S. 2009, &quot;Prenatal Screening for Aneuploidy&quot;, New England Journal of Medicine, vol. 360, no. 24, pp. 2556-2562. &lt;/ref&gt; The picture shows a clenched hand and overlapping fingers: index finger overlaps third finger and fifth finger overlaps fourth finger, characteristically seen in Trisomy 18.<br /> |1 in 3,000 conceptions and approximately 1 in 6,000 live births <br /> |[[File:200px-Overlapping_fingers.JPG|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Cystic_fibrosis Cystic Fibrosis]<br /> |A mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR) in chromosome 7.<br /> |An autosomal recessive disease that causes excessive sticky mucous to form on mucosal surfaces effecting the digestive and respiratory organs. &lt;ref&gt;Levison, J.H., Barbieri, R.L., Katz, J.T. &amp; Loscalzo, J. 2010, &quot;Hard to Conceive&quot;, New England Journal of Medicine, vol. 363, no. 10, pp. 965-970. &lt;/ref&gt; The picture shows clubbing of the fingers in a person with cystic fibrosis<br /> |Approx 1 in 3,000 <br /> |[[File:220px-ClubbingCF.JPG|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Hemoglobinopathy Hemoglobinopathy]<br /> |Structural abnormalities in the globin proteins <br /> |Multiple types of abnormal haemoglobins exist including Haemoglobin S, C E and D that alter the structure of these proteins. A common defect is sickle cell disease.&lt;ref&gt;Abboud, M.R. 2009, &quot;Hematopoietic Stem-Cell Transplantation for Adults with Sickle Cell Disease&quot;, New England Journal of Medicine, vol. 361, no. 24, pp. 2380-2381. &lt;/ref&gt;<br /> |Hemoglobinopathies are a genetic defect and therefore an inherited disorder, frequency depends on which particular hemoglobinopathy is being discussed, eg. in the case of Sickle cell disease, it is estimated that 7% of worlds population are carriers<br /> |[[File:Series_10-09.jpg|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease Tay Sachs Disease]<br /> |mutations on chromosome 15 in the HEXA gene <br /> |It is a rare autosomal recessive defect inherited from parents that are carriers for the disease. Affected individuals suffer from premature nerve cells death in the brain. &lt;ref&gt;&lt;pubmed&gt;20100466&lt;/pubmed&gt;&lt;/ref&gt;<br /> |Approx 1 in 300 are carriers<br /> |[[File:220px-Autorecessive.svg.png|right|200 px]]<br /> |-<br /> |}<br /> <br /> =Outcomes=<br /> <br /> =Ethical concerns=<br /> <br /> =Current associated research=<br /> <br /> Chorionic Villus Sampling (CVS) is one of many prenatal diagnostic tools for expectant mothers, it is popular since it can be used to identify potential problems with a fetus at a very early stage. However, the procedure does carry some risks, as does any invasive diagnostic procedure. As chorionic villus sampling is a relatively new technique, made available for safe routine use only 20 years ago, the current associated research is mainly associated with risks associated with the procedure, and ways to overcome these risks. The next section in this page will discuss the current research on CVS and the risks involved in the procedure, and not what the test results may find. <br /> <br /> ====Hypertensive disorders of pregnancy====<br /> <br /> Pregnancy induced hypertension is a condition that can occur during and after the 20th week of pregnancy. The types of hypertensive disorders can include:<br /> <br /> [[File:Enamel_Hypoplasia_Due_to_Maternal_Toxemia.jpg|thumb|200px|right|Enamel hypoplasia due to maternal toxemia]]<br /> <br /> *Pre-eclampsia or toxemia – Characterised as high blood pressure above 140/90 with proteinuria (protein in the urine that is above 300mg)<br /> * Eclampsia - Developed in a pregnant woman who has had pre-eclampsia and is characterised by seizures <br /> * Gestational hypertension – arterial hypertension that occurs after the 20th week of gestation <br /> <br /> If untreated, the condition may develop into HELLP syndrome which is a serious complication noted by hemolytic aneamia, elevated liver enzymes and a low platelet count. <br /> <br /> <br /> There has been conflicting evidence in literature that suggests that CVS is associated with hypertensive disorders in pregnancy such as pre-clampsia and gestational hypertension. In several studies, such as data from the National Institute of Health that compared late CVS procedures with early amniocentesis, showed a higher rite of gestational hypertension and preeclampsia in pregnant mothers.&lt;ref&gt;&lt;pubmed&gt;15738029&lt;/pubmed&gt;&lt;/ref&gt; (5.4% for mothers who had CVS and 3.5% that had amniocentesis.) It was hypothesized that disruption and disturbance of the placenta at 13-14 weeks may increase the risk of maternal hypertension. In addition, another recent study in 2006 also reported that there was an increase in the rate of pre-clampsia in first-time expectant mothers who have had CVS.&lt;ref&gt;&lt;pubmed&gt;19455602&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> However, in a very recent data investigation of among 9098 women that were pregnant between 1990 and 2006, the overall incidence of hypertensive disorders with women who have had CVS was 2.7% compared to the control group that did not have the procedure done which was 7.1%.&lt;ref&gt;&lt;pubmed&gt;19918960&lt;/pubmed&gt;&lt;/ref&gt; Similarly, in a study conducted by The American College of Obstetricians and Gynecologists,&lt;ref&gt;&lt;pubmed&gt;20664398&lt;/pubmed&gt;&lt;/ref&gt; 31, 138 women were that were included in the investigation showed that 2.2% developed preeclampsia and 2.8% developed gestation hypertension. Only 7.8% of those individuals had previously had CVS procedure performed. <br /> <br /> Although it can be said that some woman may develop hypertensive disorders during pregnancy that have also had the CVS procedure done in the past, there is no conclusive evidence so far that definitively associates CVS with hypertensive disorders such as pre-clampsia and gestation hypertension.<br /> <br /> ====Malformations====<br /> [[File:Craniosynostosis_.jpg|right|250 px]]<br /> <br /> <br /> Many malformations were thought to be a result of more invasive prenatal diagnostic techniques such as chorionic villus sampling. These malformations include, but are not limited to, cardiac malformations, hypospadias, craniosynostosis, pyloric stenosis, inguinal hernia, polydactyly, syndactyly, hydrocephalus and cleft lip and palate. Although these studies have now confirmed no known relationship with CVS, we will mention some below. &lt;ref&gt;&lt;pubmed&gt;7937577&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> '''Craniosynostosis''' is a condition where one of the sutures of the skull prematurely fuses, this causes the other sutures to compensate in growth for the fused suture. In normal development of the skull, the sutures allow for brain growth, so if one suture fuses prematurely, the brain can not grow normally, and the other sutures over expand in compensation. In the shown image, pictures a1 and a2 show the normal development and fusing of the infant skull. b2 shows how a suture is prematurely fused and b1 shows how the abnormality shows in an infant child.<br /> Craniosyntosis may result in increased pressure on the brain and developmental delays. Treatment of craniosynostosis usually consists of surgery to the skull where a zigzag incision is made to make the hair look more natural than the scar left by a straight incision. The surgery separates the sutures that have joined together to allow the head to develop normally.<br /> <br /> &lt;ref&gt;Silver, R.K., Macgregor, S.N., Muhlbach, L.H., Knutel, T.A. &amp; Kambich, M.P. 1994, &quot;Congenital malformations subsequent to chorionic villus sampling: Outcome analysis of 1048 consecutive procedures&quot;, Prenatal diagnosis, vol. 14, no. 6, pp. 421-427. &lt;/ref&gt;<br /> <br /> [[File:Polydactyly.jpg|left|200 px]]<br /> '''Polydactyly''' is a congenital condition where an extra digit is formed. Mostly it occurs on only one hand or foot, but sometimes can occur on all limbs. The extra digit is mostly a small non-function appendage of skin, less often it is an extension of the adjacent digit, and rarely it is a fully functioning finger that arises from the wrist or ankle joint like the other digits. Polydactyly can be described as: <br /> <br /> ● postaxial polydactyly (arising from the little finger)<br /> <br /> ● preaxial polydactyly (arising from the thumb) or<br /> <br /> ● central polydactyly (arising from anywhere between the other digits)<br /> <br /> Polydactyly is seen in 1 in every 500 births, but the extra digit is usually surgically removed shortly after birth<br /> &lt;ref&gt;&lt;pubmed&gt;20661588&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> [[File:Syndactyly2.JPG|left|200 px]]<br /> '''Syndactyly''' is also a congenital condition, but is seen when digits are fused together. Syndactyly can be described as:<br /> <br /> ● simple syndactyly (where only skin is fused to the adjacent finger)<br /> <br /> ● complex syndactyly (where the bone is fused together)<br /> <br /> ● incomplete syndactyly (where fusion is only part of the way up the digit), and,<br /> <br /> ● complete syndactyly (where fusion is to the tip of the digit)<br /> <br /> The picture on the left shows an example of polysyndactyly, where the digits are both fused, and there is an extra digit.<br /> &lt;ref&gt;&lt;pubmed&gt;20811188&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> <br /> <br /> <br /> <br /> ====Hemangiomas====<br /> <br /> [[File:Capillary_haemangioma.jpg|thumb|200px|right|Hemangioma]]<br /> <br /> A hemangioma is a benign tumour growth of endothelial cells that can occur in newborns and infants. Hemangiomas can occur anywhere in the body but are often localised on the skin of the face and neck, and are characterised by a red to reddish purple raised lesion on the skin, similarly to a &quot;strawberry&quot; like appearance. Its red appearance is due to the newly formed blood vessels, which result from the malformation of angioblastic tissues of fetal life.&lt;ref&gt;&lt;pubmed&gt;7063565&lt;/pubmed&gt;&lt;/ref&gt; <br /> Most hemangiomas do not cause any serious complications, and regress later on in life, where 90% of hemangiomas in children would disappear by the age of 9. <br /> <br /> Recently, research has linked the increase in the incidence of hemangiomas in infants following CVS. It has been postulated that the mechanism of hemangioma formation is associated with the embolisation of angioblasts or endothelial cells from the placenta to the fetal skin.&lt;ref&gt;&lt;pubmed&gt;19218861&lt;/pubmed&gt;&lt;/ref&gt; Although this may link hemangiomas to placental origin, it is unclear how, or whether CVS directly interferes or enhances the formation of these lesions. However, a recent study that compared the effects of CVS and amniocentesis on the prevalence of hemangiomas in infants showed that 27% of the study group had hemangiomas with CVS compared to 9.4% in children with hemangiomas and amniocentesis. &lt;ref&gt;&lt;pubmed&gt;20824891&lt;/pubmed&gt;&lt;/ref&gt; Furthermore, in an previous study conducted in 1995, there was a threefold increase in incidence after trancervical procedure was done, compared to amniocentesis.&lt;ref&gt;Lo, K., Mihm, M. &amp; Fay, A. 2009, &quot;Current Theories on the Pathogenesis of Infantile Hemangioma&quot;, Seminars in ophthalmology, vol. 24, no. 3, pp. 172-177. &lt;/ref&gt;&lt;ref&gt;&lt;pubmed&gt;7784377&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> =Future of Chorionic Villus Sampling=<br /> <br /> =Useful links=<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Wikipedia'''[http://en.wikipedia.org/wiki/Chorionic_villus_sampling Chorionic villus sampling]<br /> <br /> '''Fact sheets''' [http://www.thewomens.org.au/ChorionicVillusSamplingCVS Chorionic villus sampling]<br /> <br /> '''Images''' [http://www.google.com.au/images?q=chorionic+villus+sampling&amp;oe=utf-8&amp;rls=org.mozilla:en-US:official&amp;client=firefox-a&amp;um=1&amp;ie=UTF-8&amp;source=univ&amp;ei=yCWcTKT-NsircY-nzNEJ&amp;sa=X&amp;oi=image_result_group&amp;ct=title&amp;resnum=4&amp;ved=0CD4QsAQwAw&amp;biw=1280&amp;bih=615 Chorionic villus sampling]<br /> <br /> '''You tube video of procedure''' [http://www.youtube.com/watch?v=0XUZsvTkEnw Chorionic villus sampling]<br /> <br /> =Glossary=<br /> <br /> '''Amniocentesis''' - A prenatal diagnostic test involving sampling of amniotic fluid by needle aspiration for genetic analysis.<br /> <br /> '''Amnion''' - An extraembryonic membrane ectoderm and extraembryonic mesoderm in origin and forms the innermost fetal membrane, produces amniotic fluid. This fluid-filled sac initially lies above the trilaminar embryo disc and with embryoic disc folding this sac is drawn ventrally to enclose (cover) the entire embryo, then fetus.<br /> <br /> '''Amniotic cavity''' - The fluid-filled (amniotic fluid) extraembryonic coelom (cavity) formed initially by epiblast and then ectoderm and surrounding extraembryonic mesoderm. In humans, it forms the innermost fetal membrane, produces amniotic fluid expanding to fuse with the chorionic membrane during week 8 of development.<br /> <br /> '''Amniotic fluid''' - The fluid that fills amniotic cavity totally encloses and cushions the embryo.<br /> <br /> '''Cannula''' - A flexible medical tube with a sharp-pointed part at one end that is inserted into a duct, vein, or cavity in order to drain away fluid or to administer drugs<br /> <br /> '''Chorion''' - The extraembryonic membrane generated from trophoblast and extraembryonic mesoderm that forms placenta. chorion and amnion are made by the somatopleure. The chorion becomes incorporated into placental development. The avian and reptilian chorion lies beside the egg shell and allows gas exchange.<br /> <br /> '''Chorionic villus sampling (CVS)''' - The taking a biopsy of the placenta, usually at the end of the second month of pregnancy, to test the fetus for genetic abnormalities.<br /> <br /> '''Chromosome''' - double stranded DNA coiled around histones. Condenses during mitosis and meiosis.<br /> <br /> '''Ectoderm''' - One of the initial 3 germ cell layers, which will form the nervous system from the neural tube and neural crest and also generates the entire epithelial layer of the skin covering the embryo.<br /> <br /> '''Endoscope''' - a long slender medical instrument for examining the interior of a bodily organ or performing minor surgery<br /> <br /> '''Endoderm''' - One of the initial 3 germ cell layers (ectoderm, mesoderm and endoderm) formed by the process of gastrulation. The endoderm forms as a cuboidal epithelium and contributes not only to the trilaminar embryo, but also lines the yolk sac. It will form the entire epithelial lining of the gastrointestinal tract (GIT), contribute to the accessory organs of GIT and also forms the epithelial lining of the respiratory tract.<br /> <br /> '''Fetus''' - In mammals, term describes the period of development following the embryonic period. In humans, the development week 9 to 36 is the fetal stage (second and third trimester). (see fetal period above). This term is also used non-scientifically to describe the human conceptus at both embryonic and fetal stages of development.<br /> <br /> '''Gene''' - A DNA sequence that is transcribed as a single unit and encodes a single polypeptide (protein) or a set of closely related polypeptides. There are approximately 20,000-25,000 protein encoding genes in the human genome. In each cell, DNA is found within the nucleus and also within mitochondria.<br /> <br /> '''Gestation''' - The period of time from conception to birth. A pregnancy with multiple fetuses is referred to as a multiple gestation.<br /> <br /> '''Mesoderm''' - The middle layer of the 3 germ cell layers of the trilaminar embryo.<br /> <br /> '''Miscarriage''' - A general clinical term for the loss of embryo or fetus by spontaneous abortion.<br /> <br /> '''Mitosis''' - The normal division of all cells, except germ cells, where chromosome number is maintained (diploid). <br /> <br /> '''Prenatal diagnosis''' - any of the diagnostic procedures used to determine whether a fetus has a genetic abnormality<br /> <br /> '''Tenaculum''' - instrument used to grasp the cervix and keep the uterus in place during gynecological procedures.<br /> <br /> '''Termination''' - The spontaneous or artificially induced expulsion of an embryo or fetus. As used in legal context, the term usually refers to induced abortion.<br /> <br /> '''Transabdominal''' - In the transabdominal CVS technique, the physician inserts a needle through the abdomen into the placenta. This is also done with ultrasound, to guide the physician<br /> <br /> '''Transcervical''' - In the transcervical CVS technique, the physician inserts a small tube through the cervix into the placenta. This is done while ultrasound guides the physician<br /> <br /> '''Ultrasound''' - A non-invasive technique for visualizing and prenatal diagnosis of several features of development including: follicles in the ovaries, the gestational sac, fetus in the uterus, fetal parameters, and the placenta. The technique uses high-frequency sound waves that are reflected off internal structures. These reflections can then be analysed and displayed by computer.<br /> <br /> '''Villi''' - Plural of villus, which is a thin projection from a surface. A term used to describe the many functional units together of the fetal placenta. <br /> <br /> '''Vitelline arteries and veins''' - The blood vessels which form in the extraembryonic mesoderm of the yolk sac and anastomose are called vitelline arteries (flow away from the embryo) and vitelline veins (flow toward the embryo).<br /> <br /> ==Prenatal Diagnosis Terms==<br /> <br /> '''false negative rate''' - The proportion of pregnancies that will test negative given that the congenital anomaly is present.<br /> <br /> '''false positive rate''' - The proportion of pregnancies that will test positive given that the congenital anomaly is absent.<br /> <br /> '''negative predictive value''' - The probability that a congenital anomaly is absent given that the prenatal screening test is negative.<br /> <br /> '''positive predictive value''' - The probability that a congenital anomaly is present given that the prenatal screening test is positive.<br /> <br /> '''pre-implantation genetic diagnosis''' - (PGD) a screening procedure for embryos produced through in vitro fertilisation (IVF) for genetic diseases that would generate developmental abnormalities or serious postnatal diseases.<br /> <br /> '''prenatal screening sensitivity''' - (detection rate) The probability of testing positive on a prenatal screening test if the congenital anomaly is present.<br /> <br /> '''prenatal screening specificity''' - The probability of testing negative on a prenatal screening test if the congenital anomaly is absent.<br /> <br /> <br /> ==Glossary Links==<br /> <br /> :[[A|A]] | [[B|B]] | [[C|C]] | [[D|D]] | [[E|E]] | [[F|F]] | [[G|G]] | [[H|H]] | [[I|I]] | [[J|J]] | [[K|K]] | [[L|L]] | [[M|M]] | [[N|N]] | [[O|O]] | [[P|P]] | [[Q|Q]] | [[R|R]] | [[S|S]] | [[T|T]] | [[U|U]] | [[V|V]] | [[W|W]] | [[X|X]] | [[Y|Y]] | [[Z|Z]] | [[Numbers|Numbers]]<br /> <br /> =References=<br /> &lt;references/&gt;<br /> <br /> == 2010 ANAT2341 Group Projects ==<br /> <br /> [[2010_Group_Project_1|Project 1 - Ultrasound]] | [[2010_Group_Project_2|Project 2 - Chorionic villus sampling]] | [[2010_Group_Project_3|Project 3 - Amniocentesis]] | [[2010_Group_Project_4|Group Project 4 - Percutaneous Umbilical Cord Blood Sampling]] | [[2010_Group_Project_5|Project 5 - Fetal Fibronectin]] | [[2010_Group_Project_6|Project 6 - Maternal serum alpha-fetoprotein]] | [[ANAT2341_2010_Students|Students Page]]<br /> <br /> <br /> {{Template:Footer}}<br /> [[Category:2010ANAT2341]] [[Category:Science-Undergraduate]]</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=2010_Group_Project_2&diff=38307 2010-09-26T09:30:37Z

<p>Z3265772: /* Table Comparing Prenatal Diagnosis Techniques */</p> <hr /> <div>[[File:Embryo_11-14_weeks.jpg|right|400 px]]<br /> <br /> ='''Chorionic Villus Sampling (CVS)'''=<br /> <br /> =Introduction=<br /> <br /> [[Image:Gray31.png|thumb|350px|right|Grays]]<br /> <br /> <br /> Chorionic villus sampling or CVS is a type of prenatal diagnosis test performed in the first trimester to detect major fetal abnormalities such as down syndrome, cystic fibrosis and tay-sachs disease, among many others. In the procedure, tissue is withdrawn from small finger like projections on the placenta called chorionic villi and tested for chromosomal defects. It is commonly performed between 10 and 12 weeks of pregnancy. <br /> The advantage of CVS over other procedures is that the result is available approx 6 weeks earlier in the pregnancy, so if a termination is needed, it can be done earlier which is much safer, rather than later in the pregnancy, which can carry more risks. &lt;ref&gt;Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., de, l.C., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Lubs, H.A., Mahoney, M.J., Pergament, E., Simpson, J.L., Carpenter, R.J., Elias, S., Ginsberg, N.A., Goldberg, J.D., Hobbins, J.C., Lynch, L., Shiono, P.H., Wapner, R.J. &amp; Zachary, J.M. 1989, &quot;The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities&quot;, New England Journal of Medicine, vol. 320, no. 10, pp. 609-617.&lt;/ref&gt;<br /> <br /> ''Reasons for getting chorionic villus sampling can include:''<br /> <br /> -History of genetic disorders in the family<br /> <br /> -Parents have already had a child with a disorder such as down syndrome or cystic fibrosis<br /> <br /> -Abnormal ultrasound result<br /> <br /> -Maternal age of 35 or older, which increases the risk of chromosomal defects such as down syndrome<br /> <br /> <br /> =Historic background=<br /> <br /> <br /> '''Brief timeline of CVS use'''<br /> <br /> *1968 - Mohr in Scandinavia introduced the concept of prenatal diagnosis using chorionic villi sampling &lt;ref&gt;&lt;pubmed&gt;5691288&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1973 - Kullander and Sandahl and Hahnemann in 1974 showed further study into chromosomal analysis from CVS &lt;ref&gt;&lt;pubmed&gt;4766093&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1975 - from the Department of Obstetrics and Gynaecology at the Tietung Hospital in Anshan, China was successful in using CVS to determine sex of fetuses for sex pre selection. &lt;ref&gt;&lt;pubmed&gt;811431&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1980 - Kazy et al. were the first to use ultrasound guidance during chorionic villi sampling. &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1981 - Niazi et al. improved methods for culturing of fibroblasts from trophoblast villi. &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1983 - Ward performed transcervical CVS with 67% success rate. In the same year, the Brombati group demonstrated and 96% success rate with obtaining villi with the aid of ultrasound guidance &lt;ref&gt;&lt;pubmed&gt;6463023&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1984 - Smidt-Jensen and Hahnemann introduced transabdominal CVS under ultrasound guidance &lt;ref&gt;&lt;pubmed&gt;4088973&lt;/pubmed&gt;&lt;/ref&gt;<br /> *1986 - The Golbus group had a 3.8% miscarriage rate, and subsequently many other clinics started reporting a much lower rate of miscarriage at 1.7% making the procedure safe for routine use &lt;ref&gt;&lt;pubmed&gt;3717235&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> ===Jan Mohr (1921-2009)===<br /> [[Image:Jan_Mohr.jpg|thumb|200px|left|Jan Mohr]]<br /> <br /> <br /> '''1968 -- Concept of CVS introduced'''<br /> <br /> In 1968 Jan Mohr introduced the concept of prenatal diagnosis using the CVS technique. &lt;ref&gt;&lt;pubmed&gt;5691288&lt;/pubmed&gt;&lt;/ref&gt; He used the transcervical method to get a biopsy of the chorion using an endoscope as the source of vision. The current technique differs by using mostly transabdominal access with ultrasound instead of an endoscope. He reported a 96% success rate in obtaining chorionic material but with a high incidence of bleeding and infection. The approach was abandoned as amniocentesis became more popular due to higher safety levels<br /> <br /> <br /> <br /> '''1973-1975 -- Further study into chromosomal analysis from CVS'''<br /> <br /> Kullander and Sandahl in 1973 and Hahnemann in 1974 further researched fetal chromosome analysis using transcervical biopsy before termination in early pregnancies. &lt;ref&gt;&lt;pubmed&gt;4766093&lt;/pubmed&gt;&lt;/ref&gt; In 1975 the first successful diagnostic use of chorionic villi was reported at the Tietung Hospital in China. &lt;ref&gt;&lt;pubmed&gt;811431&lt;/pubmed&gt;&lt;/ref&gt; This is where fetal sex was diagnosed for the purpose of sex pre-selection. They claimed to have 94% diagnosis success and only 4% miscarriage rate. Researchers in the United States were, however unable to duplicate the results and so the idea of CVS diagnosis was again abandoned for some time.<br /> <br /> <br /> '''1980-1983 -- Change from endoscopic examination to ultrasound to guide CVS'''<br /> <br /> With the invention of the ultrasound and advancement in molecular genetics, an earlier prenatal diagnosis was now sought after. So Kazy et al. in 1980, began using both the endoscope and the ultrasound for fetal sexing on chorion biopsies. This was the first report of using ultrasound guidance during chorion sampling. After Kazy et.al. began using the ultrasound for guidance, many others followed. Niazi et al., Ward and the Brombati group all started using ultrasound guided CVS. Techniques quickly improved and success rate of obtaining chorionic material rose from 75% to 96% &lt;ref&gt;&lt;pubmed&gt;7208019&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> '''1984-1986 -- The introduction of transabdominal CVS'''<br /> <br /> In 1984, Smidt-Jensen and Hahnemann in Copenhagen introduced transabdominal CVS using ultrasound guidance. &lt;ref&gt;&lt;pubmed&gt;6463023&lt;/pubmed&gt;&lt;/ref&gt; With less chance of infective complications the procedure has become more popular than the transcervical method in many prenatal diagnostic centers. Other ultrasonic techniques and modifications were explored by the Brambati and Simoni group and the Golbus group in 1985. &lt;ref&gt;&lt;pubmed&gt;4088973&lt;/pubmed&gt;&lt;/ref&gt; The Golbus group reported in 1986 a miscarriage rate of 3.8%. &lt;ref&gt;&lt;pubmed&gt;3717235&lt;/pubmed&gt;&lt;/ref&gt; Subsequently, many other centres reported a much lower miscarriage rate of 1.5% which made the procedure safe for routine use.<br /> <br /> ==Table Comparing Prenatal Diagnosis Techniques==<br /> <br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ This table shows invasiveness and timeframe for some prenatal diagnostic techniques<br /> ! Invasiveness !! Diagnostic technique !! Comments !! Time Frame !! Diagram<br /> |-<br /> |Non Invasive<br /> |[[2010_Group_Project_1|Ultrasound]]<br /> |'''Tests for:''' neural tube defects, chromosomal abnormalities and congenital heart abnormalities<br /> <br /> '''Risks:''' No risks currently indicated for ultrasound use in prenatal diagnosis. <br /> <br /> This test uses high frequency sound waves through a transmitting device, which construct a picture of the fetus when the waves are reflected and received back by the transmitter. Due to no known risks, ultrasound use is used routinely in pregnancies and is the first port of call for prenatal diagnosis. If a potential abnormality is found or the parents are high risk, then a more invasive diagnostic technique may be recommended. The type of diagnostic technique used depends on the potential abnormality found. &lt;ref&gt;Kremkali, F.W. (2006) Diagnostic Ultrasound Principles and Instruments (7th ed.) St Louis: Saunders Elsevier. pp3-5&lt;/ref&gt;[[2010_Group_Project_1|More about Ultrasound]]<br /> |Weeks 18-20<br /> |[[File:ZConvex_Array_Transducer.jpg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_2|Chorionic Villus Sampling]]<br /> |'''Tests for:''' chromosomal abnormalities and genetic abnormalities <br /> <br /> '''Risks:''' Miscarriage (1%), some of the side effects include dizziness, abdominal discomfort, cramping, haemorrhage, infection, ruptured amniotic sac, increased risk of limb defects if the test was performed at nine weeks’ gestation or earlier &lt;ref&gt;Alfirevic, Z., K. Sundberg, et al. 2008. &quot;Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review).&quot; Cochrane Database of Systematic Reviews 4: 1-134.&lt;/ref&gt;<br /> <br /> With the guidance of Ultrasound, a needle is inserted in to the abdomen or through the cervix and a small sample of chorionic villi from the placenta are obtained. This sample is sent to a cytogenetics laboratory where the cells are cultured and stained, and photographed to view chromosomes <br /> |Weeks 10-12<br /> |[[File:Transabdominal_CVS.jpg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_3|Amniocentesis ]] <br /> |'''Tests for:''' chromosomal abnormalities, fetal infections, and genetic abnormalities<br /> <br /> '''Risks:''' Miscarriage &lt;1%, stillbirths 3%, and small risk of infection. &lt;ref&gt;&lt;pubmed&gt;PMC2464303&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> A needle is inserted in to the uterus where a sample of the amniotic fluid surrounding the fetus is taken. This procedure is usually done with the guidance of ultrasound so the physician can see where the needle is being inserted. The amniotic fluid is analysed for abnormalities. [[2010_Group_Project_3|More about Amniocentesis ]]<br /> |Weeks 15-16<br /> |[[File:Process_of_amniocentesis.jpeg|right|150 px]]<br /> |-<br /> |Invasive<br /> |[[2010_Group_Project_4|Percutaneous Umbilical Cord Blood Sampling]]<br /> |'''Tests for:'''chromosomal abnormalities, blood disorders, some metabolic disorders, fetal infections, and some causes of structural problems.<br /> <br /> '''Risks:'''Miscarriage &lt;2%, Preterm labour, fetal bradycardia, bleeding of the umbilical cord. &lt;ref&gt;&lt;pubmed&gt;16530195&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> A small needle is inserted in to the abdomen of the mother and a sample of blood is taken from the umbilical vein in the umbilical cord. This technique is often used when other diagnostic techniques are inconclusive, but should be used with caution as carries higher risk rates. The benefit of Percutaneous Umbilical Cord Blood Sampling is that the results are available much faster, within 72 hours of testing. CVS and amniocentesis tests need culturing and therefore take up to 11 days for a result. [[2010_Group_Project_4|More about Percutaneous Umbilical Cord Blood Sampling]]<br /> |Weeks 18-22<br /> |[[File:Placenta_Anterior.jpg|right|150 px]]<br /> |-<br /> |Less Invasive<br /> |[[2010_Group_Project_5|Fetal Fibronectin]]<br /> |'''Tests for:'''determines the likelihood of premature birth in women of high risk<br /> <br /> '''Risks:'''No known risks for the testing of Fetal Fibronectin, as is it less invasive than other techniques.<br /> <br /> Fetal Fibronectin is only found in the uterus until the onset of labour when is secretes in through the cervix. In this procedure, a sample of the cervico-vaginal secretions are taken and sent to the lab for testing. If the test comes out positive for Fetal Fibronectin in the vagina, the mother has a chance of going into premature labour. [[2010_Group_Project_5|More about Fetal Fibronectin]]<br /> |Weeks 24-34<br /> |<br /> |-<br /> |Non Invasive<br /> |[[2010_Group_Project_6|Maternal serum alpha-fetoprotein]]<br /> |'''Tests for:'''AFP is a type of screening test and do not diagnose problems, but signal whether further testing is needed. Normal AFP levels are increased in Neural Tube Defects and Omphalocoele &amp; decreased in Down Syndrome.<br /> <br /> '''Risks:'''No known risks as Maternal serum alpha-fetoprotein is non invasive<br /> <br /> A blood sample is taken from the mother and alpha-fetoprotein levels are measured in the lab. These measurements can determine the risk level of certain abnormalities in the fetus. The advantage is that it is non invasive, but the disadvantage is that it has a very high false positive rate, so many mothers have gone on to have amniocentesis or chorionic villus sampling to find nothing is wrong with the baby. This can be overcome by having another alpha-fetoprotein test before getting amniocentesis or chorionic villus sampling. [[2010_Group_Project_6|More about Maternal serum alpha-fetoprotein]]<br /> |Weeks 15-20<br /> |[[File:Enzyme_immunoassay.jpg|right|150 px]]<br /> |-<br /> |}<br /> <br /> =Description of technique=<br /> <br /> [[File:transabdominal_CVS.jpg|right|thumb|280px|Transabdominal Technique]]<br /> [[File:transcervicalCVS.jpg|right|thumb|280px|Transcervical Technique]]<br /> <br /> CVS can be performed in two ways, through the cervix (transcervical) or through the abdomen (transabdominal). Both techniques are equally safe when performed by an experienced technician, however miscarriage rates are somewhat higher when done through the cervix. Prior to the procedure, an abdominal ultrasound can be performed to locate the position of the uterus, and the placenta. A full bladder is not required. Depending on the type of method performed, the vulva, vagina, cervix or abdomen are cleaned with antiseptic. The procedure normally takes only 1-2 minutes to perform and the patient is able to leave the clinic within the hour after the fetus is checked.&lt;ref&gt;Melbourne Ultrasound for Women. Chorionic Villus Sampling. Accessed 5 September 2010. http://www.nevdgp.org.au/info/melb_us/cvs_melb.htm&lt;/ref&gt; <br /> <br /> <br /> <br /> ===Transabdominal Procedure===<br /> <br /> # A local anaesthetic is first applied to the abdomen.&lt;br&gt;<br /> # A thin hollow needle is then inserted through the abdomen into the uterus and into the edge of the placenta where the chorion is located. An ultrasound transducer is commonly used to guide the needle during the procedure. &lt;br&gt;<br /> # A finer syringe needle is then passed through the outer needle, and the tissue is then drawn.&lt;br&gt;<br /> # The sample is taken to the laboratory for testing. <br /> <br /> ===Transcervical Procedure===<br /> # A speculum is inserted in the vagina and the area is cleaned with antiseptic.&lt;br&gt;<br /> # With the help of ultrasound imaging, a thin cannula is then inserted through the cervix and uterus and into the placenta.&lt;br&gt;<br /> #The tissue sample is then taken up through the cannula.&lt;br&gt;<br /> &lt;ref&gt;&lt;pubmed&gt;20154617&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> After the sample is taken to the laboratory, the cells are grown until there are enough cells for chromosome testing. The results normally take up to 2 weeks to complete.<br /> <br /> ===Complications===<br /> <br /> Some of the side effects and complications after a CVS procedure can include:<br /> <br /> * Dizziness <br /> * Abdominal discomfort<br /> * Cramping<br /> * Haemorrhage<br /> * Infection<br /> * Ruptured amniotic sac<br /> * Increased risk of limb defects if the test was performed at nine weeks’ gestation or earlier<br /> * Premature delivery<br /> &lt;ref&gt;Alfirevic, Z., K. Sundberg, et al. 2008. &quot;Amniocentesis and chorionic villus sampling for prenatal diagnosis (Review).&quot; Cochrane Database of Systematic Reviews 4: 1-134.&lt;/ref&gt;<br /> <br /> Additional complications can involve technical errors such as failure of the specimen to grow sufficiently in the laboratory and uncertain laboratory results. If this occurs, amniocentesis is still an option after 15 weeks.<br /> <br /> ===Results and Accuracy===<br /> <br /> The accuracy of CVS to detect chromosome abnormalities is quite high, at around 98-99% &lt;ref&gt;Hall, Judith G. &quot;Chromosomal Clinical Abnormalities.&quot; In Nelson Textbook of Pediatrics. Edited by Richard E. Behrman et al. Philadelphia: Saunders, 2004.&lt;/ref&gt;. Although it has a high accuracy rate to diagnose most major chromosomal problems, CVS does have some limitations. Having A negative result for an abnormality does not rule out ALL genetic defects the baby may have. Comparatively to amniocentesis, CVS does NOT detect neural tube defects such as spina bifida, or anencephaly. <br /> The type of chromosome abnormalities detected by CVS will be further discussed in detail below.<br /> <br /> ===Limitations===<br /> [[file:Double_tetrasomy_18_mosaicism.jpg‎|thumb|250 px|Example of a child with double tetrasomy 18+ mosaicism.]]<br /> <br /> '''Maternal contamination'''<br /> <br /> Since the villus sample also involves maternal cells, there is a possibility that they may take over the laboratory culture instead, consequently leading to the mother's cells being tested instead of the fetus's cells. The risk of this happening is low however and is decreased when the sample contains an adequate amount of fetal cells.<br /> <br /> <br /> '''Mosaicism'''<br /> <br /> &quot;Mosaicism&quot; occurs when both abnormal and normal cells are found in the chorionic villi. Mosaicism can involve both the fetus (true fetal mosaicism) and the placental tissues or the placental tissues alone. When this happens, cells that multiply from these abnormal cells may develop a chromosome anomaly.<br /> What can result is that in certain body organs the fetus has a combination of cells that are abnormal and normal in genetic structure. <br /> The rate of the placental type occuring is found in 1-2% of pregnancies detected by CVS.&lt;ref&gt;&lt;pubmed&gt;9316125&lt;/pubmed&gt;&lt;/ref&gt; When mosaicism is detected by CVS, the limitation lies in the inability to conclude that the baby itself and not just the placental tissues will share the mosaicism. Even if the baby is affected, it will be unclear as to what percentage of the fetal cells and the type of organs that will be affected.&lt;ref&gt;Trofatter. K.F. 2008. Chromosomal Mosaicism Detected at the Time of Chorionic Villus Sampling. Accessed on 15 September 2010. http://www.healthline.com/blogs/pregnancy_childbirth/2008/03/chromosomal-mosaicism-detected-at-time.html&lt;/ref&gt;<br /> <br /> =Risks=<br /> <br /> <br /> When Chorionic Villus Sampling is performed, a small sample of the placenta is removed for analysis. The placenta contains fetal material, therefore can reveal genetic defects which may lead to problems or abnormalities. &lt;ref&gt;&lt;pubmed&gt;20664398&lt;/pubmed&gt;&lt;/ref&gt; This prenatal test can be performed as early as 11 weeks into the pregnancy, this is earlier than many prenatal diagnosis tests, which is why many parents choose CVS as they can have solid information earlier in the pregnancy. Some common risks which are not under current research include: Cramping, light blood spotting, pain, fever and chills, leakage (which can be a major concern as it can lower amniotic fluid to a dangerous level for the infant), and potential for missing fingers and toes in the newborn. For this reason, the procedure is only recommended for women who are at least 11 weeks pregnant. &lt;ref&gt;&lt;pubmed&gt;20051662&lt;/pubmed&gt;&lt;/ref&gt; The other major risks that are currently being researched are outlined below<br /> <br /> ====Transabdominal vs Transcervical CVS. Comparison of risks====<br /> <br /> <br /> [[File:CVS_Table.jpg|left|thumb|280px|Transabdominal vs Transcervical risks]]<br /> <br /> This table shows the symptoms of women approximately 3 days after sampling. The table shows women who had undergone transcervical sampling had higher frequencies of fluid leakage, vaginal spotting, and bleeding. When a tenaculum is not used, the frequency of vaginal spotting and bleeding persisted in the transcervical-sampling group. Only two women, both in the transcervical-sampling group, had a temperature above 38°C. &lt;ref&gt;Jackson, L.G., Zachary, J.M., Fowler, S.E., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Mahoney, M.J., Pergament, E., Simpson, J.L., Black, S. &amp; Wapner, R.J. 1992, &quot;A Randomized Comparison of Transcervical and Transabdominal Chorionic-Villus Sampling&quot;, New England Journal of Medicine, vol. 327, no. 9, pp. 594-598.&lt;/ref&gt;<br /> <br /> <br /> ====Miscarriage====<br /> <br /> One of the biggest risks of Chorionic Villus Sampling is miscarriage. In one to 100 or 200 cases, the procedure is linked with miscarriage. &lt;ref&gt;&lt;pubmed&gt;19155918&lt;/pubmed&gt;&lt;/ref&gt; In an experienced clinic, this rate may go down to one in 300 to 400. To lower the risk of miscarriage with Chorionic Villus Sampling, it is recommended the procedure be performed by an experienced clinician<br /> <br /> <br /> ====Oligohydramnios====<br /> <br /> Oligohydramnios is a condition due to low amniotic fluid level, which is caused by amniotic fluid leakage. Amniotic fluid leakage is typically caused by fetal urinary tract abnormalities such as Potter's syndrome, polycystic kidneys, or genitourinary obstruction. But leakage can sometimes be caused by sampling of the chorionic villi due to insertion of the needle. If the resulting oligohydramnios is not treated and the amniotic fluid continues to leak it can result in the baby developing hypoplastic lungs (underdeveloped lungs). &lt;ref&gt;&lt;pubmed&gt;17694578&lt;/pubmed&gt;&lt;/ref&gt;&lt;br&gt;&lt;br&gt;<br /> <br /> <br /> '''Why would you use CVS over other techniques?'''<br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ Advantages and Disadvantages of Chorionic Villus Sampling<br /> ! Advantages !! Disadvantages <br /> |-<br /> |Can be performed earlier in pregnancy than amniocentesis (at around ten weeks).<br /> <br /> Results are available faster<br /> <br /> Cells obtained are mitotically active<br /> <br /> Amount of tissue obtained is preferable for DNA analysis.<br /> <br /> It is almost 100% reliable in detecting chromosomal and genetic defects.<br /> |It carries a slightly higher risk of miscarriage (1%-2%) than does amniocentesis<br /> <br /> It's less commonly available than amniocentesis, and fewer doctors are experienced in the procedure.<br /> <br /> It entails a greater risk of distorted results than does amniocentesis due to presence of mother's cells in the sample and discrepancies between chorionic villi and fetal genes.<br /> <br /> Metabolic disorders are difficult to diagnose and must be confirmed with amniocentesis.<br /> <br /> Because of the early gestational age at which the test is performed, fetal anatomy cannot be seen as well as it can at the time amniocentesis is performed.<br /> |-<br /> |}<br /> &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt;<br /> <br /> =Abnormalities found by CVS prenatal diagnostic technique=<br /> <br /> [[File:Down-normal.gif|right|thumb|280px|Normal]]<br /> <br /> [[File:Down-extra.gif|right|thumb|280px|third copy of chromosome 21]]<br /> <br /> The cells collected by CVS are sent to a cytogenetics laboratory. There the cells are cultured (stimulated to grow and divide) for 10-14 days. After enough cells are obtained, a banded karyotype is performed. This means that the fetal chromosomes in the cultured cells are stained and subsequently photographed. The photographed chromosomes are then ordered by number, counted and checked for structural abnormalities. There should be 46 chromosomes, 23 pairs. A boy's karyotype is described as 46,XY and a girl's karyotype is described as 46,XX.&lt;ref&gt;Rhoads, G.G., Jackson, L.G., Schlesselman, S.E., de, l.C., Desnick, R.J., Golbus, M.S., Ledbetter, D.H., Lubs, H.A., Mahoney, M.J., Pergament, E., Simpson, J.L., Carpenter, R.J., Elias, S., Ginsberg, N.A., Goldberg, J.D., Hobbins, J.C., Lynch, L., Shiono, P.H., Wapner, R.J. &amp; Zachary, J.M. 1989, &quot;The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities&quot;, New England Journal of Medicine, vol. 320, no. 10, pp. 609-617. &lt;/ref&gt;<br /> <br /> <br /> <br /> {|border=&quot;1px&quot; cellspacing=&quot;1&quot; align=&quot;center&quot; cellpadding=&quot;5&quot; <br /> |+ This table shows what disorders CVS detects, the cause, frequency and any comments<br /> ! Disorder !! Cause !! Comments !! Frequency !! Picture <br /> |-<br /> |[[ Trisomy 21 | Down Syndrome ]]<br /> |A third copy of chromosome 21<br /> <br /> Normally, there are only two copies of this chromosome<br /> |The average IQ of children with Down syndrome is around 50, compared to normal children with an IQ of 100. Complications for people with down syndrome include: congenital heart defects, gastroesophageal reflux disease, recurrent ear infections, obstructive sleep apnea, and thyroid dysfunctions. &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt; The picture shows a newborn infant with Down Syndrome (Trisome 21)<br /> |Approximately 1 in 1,000 births &lt;ref&gt;Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R., Berkowitz, R.L., Gross, S.J., Dugoff, L., Craigo, S.D., Timor-Tritsch, I., Carr, S.R., Wolfe, H.M., Dukes, K., Bianchi, D.W., Rudnicka, A.R., Hackshaw, A.K., Lambert-Messerlian, G., Wald, N.J. &amp; D'Alton, M.E. 2005, &quot;First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome&quot;, New England Journal of Medicine, vol. 353, no. 19, pp. 2001-2011. &lt;/ref&gt;<br /> |[[File:Trisomy_21_newborn.jpg|right|200 px]]<br /> |-<br /> |[[ Trisomy 13 | Trisomy 13 ]]<br /> |A third copy of chromosome 13<br /> <br /> Normally, there are only two copies of this chromosome<br /> |Also called Patau syndrome. This abnormality causes mental and motor abnormalities, polydactyly (extra digits), kidney defects, abnormal genitalia and heart defects, among many others. &lt;ref&gt;Driscoll, D.A. &amp; Gross, S. 2009, &quot;Prenatal Screening for Aneuploidy&quot;, New England Journal of Medicine, vol. 360, no. 24, pp. 2556-2562. &lt;/ref&gt; The picture shows an infant with polydactyly, a potential complication of Trisome 13<br /> |Less than 1% <br /> |[[File:220px-Patauhand.PNG|right|200 px]]<br /> |-<br /> |[[ Trisomy 18 | Trisomy 18 ]]<br /> |A third copy of chromosome 18<br /> <br /> Normally, there are only two copies of this chromosome<br /> |Also known as Edwards syndrome. It has a very low survival rate, due to: kidney and heart defects, intestines protruding outside the body, mental abnormalities, growth disorders, feeding and breathing difficulties. &lt;ref&gt;Driscoll, D.A. &amp; Gross, S. 2009, &quot;Prenatal Screening for Aneuploidy&quot;, New England Journal of Medicine, vol. 360, no. 24, pp. 2556-2562. &lt;/ref&gt; The picture shows a clenched hand and overlapping fingers: index finger overlaps third finger and fifth finger overlaps fourth finger, characteristically seen in Trisomy 18.<br /> |1 in 3,000 conceptions and approximately 1 in 6,000 live births <br /> |[[File:200px-Overlapping_fingers.JPG|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Cystic_fibrosis Cystic Fibrosis]<br /> |A mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR) in chromosome 7.<br /> |An autosomal recessive disease that causes excessive sticky mucous to form on mucosal surfaces effecting the digestive and respiratory organs. &lt;ref&gt;Levison, J.H., Barbieri, R.L., Katz, J.T. &amp; Loscalzo, J. 2010, &quot;Hard to Conceive&quot;, New England Journal of Medicine, vol. 363, no. 10, pp. 965-970. &lt;/ref&gt; The picture shows clubbing of the fingers in a person with cystic fibrosis<br /> |Approx 1 in 3,000 <br /> |[[File:220px-ClubbingCF.JPG|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Hemoglobinopathy Hemoglobinopathy]<br /> |Structural abnormalities in the globin proteins <br /> |Multiple types of abnormal haemoglobins exist including Haemoglobin S, C E and D that alter the structure of these proteins. A common defect is sickle cell disease.&lt;ref&gt;Abboud, M.R. 2009, &quot;Hematopoietic Stem-Cell Transplantation for Adults with Sickle Cell Disease&quot;, New England Journal of Medicine, vol. 361, no. 24, pp. 2380-2381. &lt;/ref&gt;<br /> |Hemoglobinopathies are a genetic defect and therefore an inherited disorder, frequency depends on which particular hemoglobinopathy is being discussed, eg. in the case of Sickle cell disease, it is estimated that 7% of worlds population are carriers<br /> |[[File:Series_10-09.jpg|right|200 px]]<br /> |-<br /> | [http://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease Tay Sachs Disease]<br /> |mutations on chromosome 15 in the HEXA gene <br /> |It is a rare autosomal recessive defect inherited from parents that are carriers for the disease. Affected individuals suffer from premature nerve cells death in the brain. &lt;ref&gt;&lt;pubmed&gt;20100466&lt;/pubmed&gt;&lt;/ref&gt;<br /> |Approx 1 in 300 are carriers<br /> |[[File:220px-Autorecessive.svg.png|right|200 px]]<br /> |-<br /> |}<br /> <br /> =Outcomes=<br /> <br /> =Ethical concerns=<br /> <br /> =Current associated research=<br /> <br /> Chorionic Villus Sampling (CVS) is one of many prenatal diagnostic tools for expectant mothers, it is popular since it can be used to identify potential problems with a fetus at a very early stage. However, the procedure does carry some risks, as does any invasive diagnostic procedure. As chorionic villus sampling is a relatively new technique, made available for safe routine use only 20 years ago, the current associated research is mainly associated with risks associated with the procedure, and ways to overcome these risks. The next section in this page will discuss the current research on CVS and the risks involved in the procedure, and not what the test results may find. <br /> <br /> ====Hypertensive disorders of pregnancy====<br /> <br /> Pregnancy induced hypertension is a condition that can occur during and after the 20th week of pregnancy. The types of hypertensive disorders can include:<br /> <br /> [[File:Enamel_Hypoplasia_Due_to_Maternal_Toxemia.jpg|thumb|200px|right|Enamel hypoplasia due to maternal toxemia]]<br /> <br /> *Pre-eclampsia or toxemia – Characterised as high blood pressure above 140/90 with proteinuria (protein in the urine that is above 300mg)<br /> * Eclampsia - Developed in a pregnant woman who has had pre-eclampsia and is characterised by seizures <br /> * Gestational hypertension – arterial hypertension that occurs after the 20th week of gestation <br /> <br /> If untreated, the condition may develop into HELLP syndrome which is a serious complication noted by hemolytic aneamia, elevated liver enzymes and a low platelet count. <br /> <br /> <br /> There has been conflicting evidence in literature that suggests that CVS is associated with hypertensive disorders in pregnancy such as pre-clampsia and gestational hypertension. In several studies, such as data from the National Institute of Health that compared late CVS procedures with early amniocentesis, showed a higher rite of gestational hypertension and preeclampsia in pregnant mothers.&lt;ref&gt;&lt;pubmed&gt;15738029&lt;/pubmed&gt;&lt;/ref&gt; (5.4% for mothers who had CVS and 3.5% that had amniocentesis.) It was hypothesized that disruption and disturbance of the placenta at 13-14 weeks may increase the risk of maternal hypertension. In addition, another recent study in 2006 also reported that there was an increase in the rate of pre-clampsia in first-time expectant mothers who have had CVS.&lt;ref&gt;&lt;pubmed&gt;19455602&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> However, in a very recent data investigation of among 9098 women that were pregnant between 1990 and 2006, the overall incidence of hypertensive disorders with women who have had CVS was 2.7% compared to the control group that did not have the procedure done which was 7.1%.&lt;ref&gt;&lt;pubmed&gt;19918960&lt;/pubmed&gt;&lt;/ref&gt; Similarly, in a study conducted by The American College of Obstetricians and Gynecologists,&lt;ref&gt;&lt;pubmed&gt;20664398&lt;/pubmed&gt;&lt;/ref&gt; 31, 138 women were that were included in the investigation showed that 2.2% developed preeclampsia and 2.8% developed gestation hypertension. Only 7.8% of those individuals had previously had CVS procedure performed. <br /> <br /> Although it can be said that some woman may develop hypertensive disorders during pregnancy that have also had the CVS procedure done in the past, there is no conclusive evidence so far that definitively associates CVS with hypertensive disorders such as pre-clampsia and gestation hypertension.<br /> <br /> ====Malformations====<br /> [[File:Craniosynostosis_.jpg|right|250 px]]<br /> <br /> <br /> Many malformations were thought to be a result of more invasive prenatal diagnostic techniques such as chorionic villus sampling. These malformations include, but are not limited to, cardiac malformations, hypospadias, craniosynostosis, pyloric stenosis, inguinal hernia, polydactyly, syndactyly, hydrocephalus and cleft lip and palate. Although these studies have now confirmed no known relationship with CVS, we will mention some below. &lt;ref&gt;&lt;pubmed&gt;7937577&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> '''Craniosynostosis''' is a condition where one of the sutures of the skull prematurely fuses, this causes the other sutures to compensate in growth for the fused suture. In normal development of the skull, the sutures allow for brain growth, so if one suture fuses prematurely, the brain can not grow normally, and the other sutures over expand in compensation. In the shown image, pictures a1 and a2 show the normal development and fusing of the infant skull. b2 shows how a suture is prematurely fused and b1 shows how the abnormality shows in an infant child.<br /> Craniosyntosis may result in increased pressure on the brain and developmental delays. Treatment of craniosynostosis usually consists of surgery to the skull where a zigzag incision is made to make the hair look more natural than the scar left by a straight incision. The surgery separates the sutures that have joined together to allow the head to develop normally.<br /> <br /> &lt;ref&gt;Silver, R.K., Macgregor, S.N., Muhlbach, L.H., Knutel, T.A. &amp; Kambich, M.P. 1994, &quot;Congenital malformations subsequent to chorionic villus sampling: Outcome analysis of 1048 consecutive procedures&quot;, Prenatal diagnosis, vol. 14, no. 6, pp. 421-427. &lt;/ref&gt;<br /> <br /> [[File:Polydactyly.jpg|left|200 px]]<br /> '''Polydactyly''' is a congenital condition where an extra digit is formed. Mostly it occurs on only one hand or foot, but sometimes can occur on all limbs. The extra digit is mostly a small non-function appendage of skin, less often it is an extension of the adjacent digit, and rarely it is a fully functioning finger that arises from the wrist or ankle joint like the other digits. Polydactyly can be described as: <br /> <br /> ● postaxial polydactyly (arising from the little finger)<br /> <br /> ● preaxial polydactyly (arising from the thumb) or<br /> <br /> ● central polydactyly (arising from anywhere between the other digits)<br /> <br /> Polydactyly is seen in 1 in every 500 births, but the extra digit is usually surgically removed shortly after birth<br /> &lt;ref&gt;&lt;pubmed&gt;20661588&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> [[File:Syndactyly2.JPG|left|200 px]]<br /> '''Syndactyly''' is also a congenital condition, but is seen when digits are fused together. Syndactyly can be described as:<br /> <br /> ● simple syndactyly (where only skin is fused to the adjacent finger)<br /> <br /> ● complex syndactyly (where the bone is fused together)<br /> <br /> ● incomplete syndactyly (where fusion is only part of the way up the digit), and,<br /> <br /> ● complete syndactyly (where fusion is to the tip of the digit)<br /> <br /> The picture on the left shows an example of polysyndactyly, where the digits are both fused, and there is an extra digit.<br /> &lt;ref&gt;&lt;pubmed&gt;20811188&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> <br /> <br /> <br /> <br /> <br /> ====Hemangiomas====<br /> <br /> [[File:Capillary_haemangioma.jpg|thumb|200px|right|Hemangioma]]<br /> <br /> A hemangioma is a benign tumour growth of endothelial cells that can occur in newborns and infants. Hemangiomas can occur anywhere in the body but are often localised on the skin of the face and neck, and are characterised by a red to reddish purple raised lesion on the skin, similarly to a &quot;strawberry&quot; like appearance. Its red appearance is due to the newly formed blood vessels, which result from the malformation of angioblastic tissues of fetal life.&lt;ref&gt;&lt;pubmed&gt;7063565&lt;/pubmed&gt;&lt;/ref&gt; <br /> Most hemangiomas do not cause any serious complications, and regress later on in life, where 90% of hemangiomas in children would disappear by the age of 9. <br /> <br /> Recently, research has linked the increase in the incidence of hemangiomas in infants following CVS. It has been postulated that the mechanism of hemangioma formation is associated with the embolisation of angioblasts or endothelial cells from the placenta to the fetal skin.&lt;ref&gt;&lt;pubmed&gt;19218861&lt;/pubmed&gt;&lt;/ref&gt; Although this may link hemangiomas to placental origin, it is unclear how, or whether CVS directly interferes or enhances the formation of these lesions. However, a recent study that compared the effects of CVS and amniocentesis on the prevalence of hemangiomas in infants showed that 27% of the study group had hemangiomas with CVS compared to 9.4% in children with hemangiomas and amniocentesis. &lt;ref&gt;&lt;pubmed&gt;20824891&lt;/pubmed&gt;&lt;/ref&gt; Furthermore, in an previous study conducted in 1995, there was a threefold increase in incidence after trancervical procedure was done, compared to amniocentesis.&lt;ref&gt;Lo, K., Mihm, M. &amp; Fay, A. 2009, &quot;Current Theories on the Pathogenesis of Infantile Hemangioma&quot;, Seminars in ophthalmology, vol. 24, no. 3, pp. 172-177. &lt;/ref&gt;&lt;ref&gt;&lt;pubmed&gt;7784377&lt;/pubmed&gt;&lt;/ref&gt;<br /> <br /> =Useful links=<br /> <br /> '''Search Bookshelf''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=Books&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Search Pubmed''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&amp;cmd=search&amp;term=Chorionic%20villus%20sampling Chorionic villus sampling]<br /> <br /> '''Wikipedia'''[http://en.wikipedia.org/wiki/Chorionic_villus_sampling Chorionic villus sampling]<br /> <br /> '''Fact sheets''' [http://www.thewomens.org.au/ChorionicVillusSamplingCVS Chorionic villus sampling]<br /> <br /> '''Images''' [http://www.google.com.au/images?q=chorionic+villus+sampling&amp;oe=utf-8&amp;rls=org.mozilla:en-US:official&amp;client=firefox-a&amp;um=1&amp;ie=UTF-8&amp;source=univ&amp;ei=yCWcTKT-NsircY-nzNEJ&amp;sa=X&amp;oi=image_result_group&amp;ct=title&amp;resnum=4&amp;ved=0CD4QsAQwAw&amp;biw=1280&amp;bih=615 Chorionic villus sampling]<br /> <br /> '''You tube video of procedure''' [http://www.youtube.com/watch?v=0XUZsvTkEnw Chorionic villus sampling]<br /> <br /> =Glossary=<br /> <br /> '''Amniocentesis''' - A prenatal diagnostic test involving sampling of amniotic fluid by needle aspiration for genetic analysis.<br /> <br /> '''Amnion''' - An extraembryonic membrane ectoderm and extraembryonic mesoderm in origin and forms the innermost fetal membrane, produces amniotic fluid. This fluid-filled sac initially lies above the trilaminar embryo disc and with embryoic disc folding this sac is drawn ventrally to enclose (cover) the entire embryo, then fetus.<br /> <br /> '''Amniotic cavity''' - The fluid-filled (amniotic fluid) extraembryonic coelom (cavity) formed initially by epiblast and then ectoderm and surrounding extraembryonic mesoderm. In humans, it forms the innermost fetal membrane, produces amniotic fluid expanding to fuse with the chorionic membrane during week 8 of development.<br /> <br /> '''Amniotic fluid''' - The fluid that fills amniotic cavity totally encloses and cushions the embryo.<br /> <br /> '''Cannula''' - A flexible medical tube with a sharp-pointed part at one end that is inserted into a duct, vein, or cavity in order to drain away fluid or to administer drugs<br /> <br /> '''Chorion''' - The extraembryonic membrane generated from trophoblast and extraembryonic mesoderm that forms placenta. chorion and amnion are made by the somatopleure. The chorion becomes incorporated into placental development. The avian and reptilian chorion lies beside the egg shell and allows gas exchange.<br /> <br /> '''Chorionic villus sampling (CVS)''' - The taking a biopsy of the placenta, usually at the end of the second month of pregnancy, to test the fetus for genetic abnormalities.<br /> <br /> '''Chromosome''' - double stranded DNA coiled around histones. Condenses during mitosis and meiosis.<br /> <br /> '''Ectoderm''' - One of the initial 3 germ cell layers, which will form the nervous system from the neural tube and neural crest and also generates the entire epithelial layer of the skin covering the embryo.<br /> <br /> '''Endoscope''' - a long slender medical instrument for examining the interior of a bodily organ or performing minor surgery<br /> <br /> '''Endoderm''' - One of the initial 3 germ cell layers (ectoderm, mesoderm and endoderm) formed by the process of gastrulation. The endoderm forms as a cuboidal epithelium and contributes not only to the trilaminar embryo, but also lines the yolk sac. It will form the entire epithelial lining of the gastrointestinal tract (GIT), contribute to the accessory organs of GIT and also forms the epithelial lining of the respiratory tract.<br /> <br /> '''Fetus''' - In mammals, term describes the period of development following the embryonic period. In humans, the development week 9 to 36 is the fetal stage (second and third trimester). (see fetal period above). This term is also used non-scientifically to describe the human conceptus at both embryonic and fetal stages of development.<br /> <br /> '''Gene''' - A DNA sequence that is transcribed as a single unit and encodes a single polypeptide (protein) or a set of closely related polypeptides. There are approximately 20,000-25,000 protein encoding genes in the human genome. In each cell, DNA is found within the nucleus and also within mitochondria.<br /> <br /> '''Gestation''' - The period of time from conception to birth. A pregnancy with multiple fetuses is referred to as a multiple gestation.<br /> <br /> '''Mesoderm''' - The middle layer of the 3 germ cell layers of the trilaminar embryo.<br /> <br /> '''Miscarriage''' - A general clinical term for the loss of embryo or fetus by spontaneous abortion.<br /> <br /> '''Mitosis''' - The normal division of all cells, except germ cells, where chromosome number is maintained (diploid). <br /> <br /> '''Prenatal diagnosis''' - any of the diagnostic procedures used to determine whether a fetus has a genetic abnormality<br /> <br /> '''Tenaculum''' - instrument used to grasp the cervix and keep the uterus in place during gynecological procedures.<br /> <br /> '''Termination''' - The spontaneous or artificially induced expulsion of an embryo or fetus. As used in legal context, the term usually refers to induced abortion.<br /> <br /> '''Transabdominal''' - In the transabdominal CVS technique, the physician inserts a needle through the abdomen into the placenta. This is also done with ultrasound, to guide the physician<br /> <br /> '''Transcervical''' - In the transcervical CVS technique, the physician inserts a small tube through the cervix into the placenta. This is done while ultrasound guides the physician<br /> <br /> '''Ultrasound''' - A non-invasive technique for visualizing and prenatal diagnosis of several features of development including: follicles in the ovaries, the gestational sac, fetus in the uterus, fetal parameters, and the placenta. The technique uses high-frequency sound waves that are reflected off internal structures. These reflections can then be analysed and displayed by computer.<br /> <br /> '''Villi''' - Plural of villus, which is a thin projection from a surface. A term used to describe the many functional units together of the fetal placenta. <br /> <br /> '''Vitelline arteries and veins''' - The blood vessels which form in the extraembryonic mesoderm of the yolk sac and anastomose are called vitelline arteries (flow away from the embryo) and vitelline veins (flow toward the embryo).<br /> <br /> ==Prenatal Diagnosis Terms==<br /> <br /> '''false negative rate''' - The proportion of pregnancies that will test negative given that the congenital anomaly is present.<br /> <br /> '''false positive rate''' - The proportion of pregnancies that will test positive given that the congenital anomaly is absent.<br /> <br /> '''negative predictive value''' - The probability that a congenital anomaly is absent given that the prenatal screening test is negative.<br /> <br /> '''positive predictive value''' - The probability that a congenital anomaly is present given that the prenatal screening test is positive.<br /> <br /> '''pre-implantation genetic diagnosis''' - (PGD) a screening procedure for embryos produced through in vitro fertilisation (IVF) for genetic diseases that would generate developmental abnormalities or serious postnatal diseases.<br /> <br /> '''prenatal screening sensitivity''' - (detection rate) The probability of testing positive on a prenatal screening test if the congenital anomaly is present.<br /> <br /> '''prenatal screening specificity''' - The probability of testing negative on a prenatal screening test if the congenital anomaly is absent.<br /> <br /> <br /> ==Glossary Links==<br /> <br /> :[[A|A]] | [[B|B]] | [[C|C]] | [[D|D]] | [[E|E]] | [[F|F]] | [[G|G]] | [[H|H]] | [[I|I]] | [[J|J]] | [[K|K]] | [[L|L]] | [[M|M]] | [[N|N]] | [[O|O]] | [[P|P]] | [[Q|Q]] | [[R|R]] | [[S|S]] | [[T|T]] | [[U|U]] | [[V|V]] | [[W|W]] | [[X|X]] | [[Y|Y]] | [[Z|Z]] | [[Numbers|Numbers]]<br /> <br /> =References=<br /> &lt;references/&gt;<br /> <br /> == 2010 ANAT2341 Group Projects ==<br /> <br /> [[2010_Group_Project_1|Project 1 - Ultrasound]] | [[2010_Group_Project_2|Project 2 - Chorionic villus sampling]] | [[2010_Group_Project_3|Project 3 - Amniocentesis]] | [[2010_Group_Project_4|Group Project 4 - Percutaneous Umbilical Cord Blood Sampling]] | [[2010_Group_Project_5|Project 5 - Fetal Fibronectin]] | [[2010_Group_Project_6|Project 6 - Maternal serum alpha-fetoprotein]] | [[ANAT2341_2010_Students|Students Page]]<br /> <br /> <br /> {{Template:Footer}}<br /> [[Category:2010ANAT2341]] [[Category:Science-Undergraduate]]</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=Talk:2010_Group_Project_2&diff=38207 2010-09-24T10:51:22Z

<p>Z3265772: /* to fix */</p> <hr /> <div>Hey Jenny, do you think Mosaicism should be in the abnormalities found by CVS section? a few people have commented that its a bit confusing what the test detects and the risks associated with testing. i think Mosaicism is more under the heading of what cvs detects --[[User:Z3265772|z3265772]] 04:16, 23 September 2010 (UTC)<br /> <br /> ===to fix===<br /> <br /> '''Begin''' by collating the comments.<br /> * What are the common criticisms?<br /> * What were the best aspects identified within your project?<br /> * What errors, typos, missing references were identified?<br /> * Were there contributions from individual group members that were identified as good or poor parts of the overall project?<br /> <br /> '''Then''' work on the changes.<br /> * Develop priorities.<br /> * Divide the changes and corrections between group members.<br /> * Are there additional changes that should be made that were not identified by peer assessment.<br /> <br /> <br /> '''Jill:'''<br /> <br /> abnormalities, maybe just adjust the cells of the table a little so the spacing appears more even as some cells have very little content while others are completely filled. What about the future of CVS? Is it a procedure that is going to continue as simply diagnostic? Is it being superseded by another procedure? comparative genomics, Improvements?<br /> <br /> future role of CVS in prenatal diagnosis or even the role of invasive procedures altogether<br /> <br /> DONE move glossary above references so you dont have to scroll all the way down to read them<br /> <br /> DONE table comparing other techniques<br /> <br /> DONE got confused between the risks of this test and what it predicted (this will be clear in the above table)<br /> <br /> DONE -it didn't state that the test was invasive in intro (table)<br /> <br /> DONE -All spelling amd grammar - some more editing of spelling is required<br /> <br /> DONE &quot;abnormalities found by CVS&quot; section towards the top of the page coz I got confused between the risks of this test and what it predicted<br /> <br /> DONE -link or a reference to the brief time line where you state the names of the authors <br /> <br /> DONE -The only advice I can give is to maybe separate the difference between normal and abnormal chromosomes and the adjacent table to allow the table more room and be easily viewed <br /> <br /> DONE -I just wonder where the files came from – I saw you put up the copyright notices, but I couldn’t find the file sources <br /> <br /> DONE -a little more reference in the &quot;result and accuracy&quot; section since it includes some percentage other than that fantastic work <br /> <br /> DONE - it would be that you put the advantages/disadvantages of CVS over other techniques in a table.<br /> <br /> <br /> <br /> <br /> '''Jenny:'''<br /> <br /> flowchart or more pictures of procedure <br /> <br /> clarify what hypertension is in the hypertensive disorders of pregnancy section<br /> <br /> possibly more pictures or a flowchart of the procedure itself? <br /> <br /> outcomes + ethics,<br /> <br /> Are the transabdominal and the transcervical pictures the student-drawn ones? put up in discussion that you drew them and you give permission for re-use<br /> <br /> elaborate on procedure eg what cells are being taken etc and stages of chorionic villus in embryology<br /> <br /> Spelling and grammar, - Jenny, ive gone through the page and edited the spelling mistakes i could find, could you please do the same incase ive missed any? and double check the sections you are about to write? Thanks :) - Jill --[[User:Z3265772|z3265772]] 00:33, 24 September 2010 (UTC)<br /> <br /> The current research section could be put more into point form to make it more inviting to read - not sure if you want to do this, i think its ok as it is, maybe just delete this suggestion? or add pictures of people researching? haha<br /> <br /> <br /> ----<br /> <br /> ==Peer Review==<br /> <br /> '''Please note!''' when posting your peer review, we only have two group members. the other one dropped out. Thanks :)<br /> <br /> --[[User:Z3129413]] 16:29, 22 September 2010 (UTC)<br /> I love those old timey pencil medical pictures and so for me this was really great, what instantly nailed the whole positive immediate impression was 'Reasons for getting chorionic villus sampling etc etc' right there at the beginning. Why would I get one? thanks very much. Perhaps a darker font would make it even better. Historical back ground is really good and technique pictures are of high standard. The table presentation of abnormalities found and ratios is such an effective way of portraying this information.<br /> <br /> A few Q's with the hypertension cvs topic, <br /> Is there a normally expected percent of women in a large population to develop hypertensive disorders, just for perspective? CVS would not lower incidences of such surely (9098 pop, 2.7% to 7.1% control). 138 study size seems a bit low, is result really much more significant? However I did understand that CVS was more risk prone than amniocentesis for pre eclampsia and gestational hypertension.<br /> This project is well on track.<br /> <br /> <br /> <br /> <br /> Group 2: Your project is very impressive in content as well as organisation. The most notable thing for me was the wide use of pictures which must have taken a lot of time and effort to source. They definitely create an engaging page especially in conjunction with the use of tables and clear subheadings. The structure you have used is very effective as it allows your information to be scientific and thorough but at the same time it is concise and easy to navigate. I felt like i got an extensive overview of CVS after having read your page and the use of pictures and subheadings kept it from being a chore. I felt the history and abnormalities sections were particularly interesting. I also appreciate how you have seemed to approach this topic from all angles and not just a one-sided, all current and positive viewpoint. To improve your page perhaps you could explore the future role of CVS in prenatal diagnosis or even the role of invasive procedures altogether. Either way your page is probably up to standard as it is and it is obvious that you have worked hard at it. Job well done.<br /> --[[User:Z3293029|z3293029]] 14:38, 22 September 2010 (UTC)<br /> <br /> <br /> <br /> <br /> <br /> <br /> Group 2: fantastic use of images, it definitely worked to your advantage in engaging your audience's attention. Over all the language used is relatively easy to follow yet informative. As someone has already mentioned, some more editing of spelling is required. The amount of attention to detail is evident in the references which are from a range of sources so well done. I particularly liked that the page covered accuracy and limitations of the diagnostic procedure. Something that lacked clarity in a few other groups. Good use of the table covering the abnormalities, maybe just adjust the cells of the table a little so the spacing appears more even as some cells have very little content while others are completely filled. What about the future of CVS? Is it a procedure that is going to continue as simply diagnostic? Is it being superseded by another procedure? Improvements?<br /> Just an idea. Well done overall. --z3241780 13:40, 22 September 2010 (UTC) <br /> <br /> <br /> '''GROUP 2: Chorionic Villi Sampling''' <br /> <br /> This page caught my attention as soon as I saw it and that made me want to read on and thus learn about Chorionic Villi Sampling. A lot of research has gone into this assignment and it’s evident in the information presented as its precise which also helps capture the readers. The amount of research is also evident in the long list of references. The webpage is actually extremely informative covering pretty much every aspect of the pre-natal diagnostic techniques. Your webpage has the most pictures and this helps it stand out as one of the best project pages. I really, really like the formatting and the tables. The images break up the information so you’re never overloaded with the amount of text. The only bit of criticism is spelling but this is extremely minor as you’ll pick up on the spelling mistakes when you go over the page. The language in is the right mixture of scientific language meaning that even people without a scientific background can understand the CVS. Great job guys you really can’t tell that only two people are in this group. It’s extremely good!!! I also really like the first picture you have, gives a page a really good feel to it.<br /> <br /> --[[User:Z3252635|z3252635]] 13:20, 22 September 2010 (UTC)<br /> <br /> <br /> <br /> Hi guys!<br /> <br /> You have found so many great pictures! Your page looks amazing. I just wonder where the files came from – I saw you put up the copyright notices, but I couldn’t find the file sources. Your timeline was great too; I really like how you put up the concise timeline and then expanded a bit on the major developments afterwards. Are the transabdominal and the transcervical pictures the student-drawn ones? If so, well done! They’re really clear and beautifully done, but you should probably label them as student drawn and put in the copyright statement. If I could suggest something, it would be that you put the advantages/disadvantages of CVS over other techniques in a table. Otherwise, your page is really easy to read, and again has brilliant visuals – great job!--[[User:Z3252833|z3252833]] 12:42, 22 September 2010 (UTC)<br /> <br /> <br /> CVS.<br /> <br /> Group 2, your project is looking great, the first thing i noticed when reading it is that there is lots of detail which shows a great depth of research has gone into it, which is supported by your reference list. Another thing is the amount of pictures which support the information and break it up to make it easier to take in so much information at once. The disorders table provides great detail and makes it interesting with the pictures.<br /> <br /> What could be improved: You could put the advantages/disadvantages into a table form to make it even easier to understand. The reasons to use this technique could be slotted into the procedure section instead of the introduction maybe as it shows who is eligible for the procedure. The current research section could be put more into point form to make it more inviting to read. But overall really great project.<br /> <br /> --[[User:Z3292208|z3292208]] 08:55, 22 September 2010 (UTC)<br /> <br /> <br /> This project is extremely well done. It seems a great effort has gone into proper referencing which also gives the impression of a thoughtful attempt. The balance of information mediums is great and the logical flow of ideas when reading through each section is perfect.<br /> Suggestion: possibly more pictures or a flowchart of the procedure itself? <br /> <br /> Well done :)<br /> <br /> --[[User:Z3254753|z3254753]] 16:55, 21 September 2010 (UTC)<br /> <br /> Group 2- This project had tons of photos which is super great because its much easier to follow... Most of the point made is supported with pictures ..definetly provided me a better understanding of CVS ..I agree with what others have mentioned its very informative and especially with just 2 team members .. fantastic work <br /> <br /> what could be improved = a little more reference in the &quot;result and accuracy&quot; section since it includes some percentage other than that fantastic work ..--[[User:Z3305561|Navneet Ahuja]] 12:53, 21 September 2010 (UTC)<br /> <br /> Group project 2: chorionic villus sampling <br /> <br /> This group had great images and the page layout was good too especially the tables which simplified the information and made it easier to read. The information presented was very informative, scientific, and all the key concepts were covered on the topic. The project had a very impressive reference list, and it did help in my understanding of this prenatal diagnostic technique.<br /> <br /> What could be improved?<br /> I did find a spelling mistake under the heading Results and Accuracy were you have written “maybe” instead of “baby”, so maybe proof read the assignment to pick up on any other possible spelling or grammatical errors, other than that well done.<br /> <br /> --[[User:Z3254433|z3254433]] 07:15, 20 September 2010 (UTC)<br /> <br /> This project was highly informative about CVS. It contained a lot of information in which it shows that a lot of research has gone into it. Everything has been covered like, what the test predicts and what risks are associated with this test. It was very scientific, yet easy to understand at a non-scientific level. I liked the external links how it directed me straight to a page of different articles about CVS. <br /> <br /> What could be improved is maybe placing the &quot;abnormalities found by CVS&quot; section towards the top of the page, because i was a bit unsure on what this test predicted in the first place. I got confused between the risks of this test and what it predicted. But I managed to understand it all once all read through. Also, a definition of a &quot;cannula&quot; may be helpful in the glossary too, i wasn't sure what that exactly was.<br /> <br /> --[[User:Z3291079|z3291079]] 02:48, 21 September 2010 (UTC)<br /> <br /> This project provides a clear understanding of the key information regarding CVS, such as how it is carried out, the risks and benfits of CVS, what it is used for as well as future research. I have find the pictures to be of a great help in explaining the procedure of CVS.<br /> <br /> One think I did notice was that, it didn't state that the test was invasive until you figure it out when you look at the pictures in the procedures. I think stating that in the introduction would make it clearer for readers to follow on with the information this projects provides having that knowledge in mind at the start.<br /> <br /> --[[User:Z3216889|3216889]] 12:13, 22 September 2010 (UTC)<br /> <br /> <br /> This web page is definitely one of my favorites. The information that you have provided is exceptional; the reference list is indicative of your extensive research. The table of deformities was a stand out for me as it was very well set out and was a effective break from the text. You also used excellent external links that were very well placed within the web page. A slight improvement would be to include a link or a reference to the brief time line where you state the names of the authors, and as previously mentioned, reference the statistics that you have included. Other than that, I applaud you for a job well done!--[[User:Z3252083|z3252083]] 12:22, 22 September 2010 (UTC)<br /> <br /> --Group 2 Chronic villus sampling<br /> This webpage shows that the group was very thorough in the research due to the amount of detail that has gone into it and its many links. The layout is very well set out which helps someone understand it if he/she has no previous knowledge of the concept. The use of pictures and diagrams were done well as it broke the page up making it very easy to read and take in the information. The only advice I can give is to maybe separate the difference between normal and abnormal chromosomes and the adjacent table to allow the table more room and be easily viewed. That’s all guys and well done considering you only had 2 people working on it. <br /> <br /> --[[User:Z3290040|3290040]] 10:19, 22 September 2010 (UTC)<br /> <br /> <br /> ----<br /> <br /> <br /> ----<br /> <br /> ===group discussion===<br /> <br /> <br /> I agree the page feels more &quot;in order&quot; now. yeh... its tough trying to find more information. I guess i'll expand on maybe on some of the abnormalities? I was thinking we can get pictures of the several diseases but it will probably be a little difficult due to copyright? hmm if i get new ideas from now until tommorrow i'll definately add more stuff in --[[User:Z3224500|Jenny Huang]] 06:38, 15 September 2010 (UTC)<br /> <br /> <br /> <br /> Hey Jenny, i changed the order of the page around, i think it makes more sense now, before it didnt really flow from one section to the next, i think its a bit better, i tried to do it on this order, Intro, history, procedure, results, risks, advantages. that order seems to be how most wiki pages are set up, and how mark sets up his pages. what do you think? -Jill --[[User:Z3265772|z3265772]] 02:14, 15 September 2010 (UTC)<br /> <br /> <br /> i think i searched prenatal diagnosis in the search box on the left, and mark has made a prenatal diagnosis page. the prenatal diagnosis terms were on that. ive been looking at last years pages, and they have so much content, but there just isnt that much information on CVS. theres only so much you can write about it. i guess we need to start thinking outside the box and adding general prenatal stuff on here too. thats why i thought maybe another table with a timeline of other techniques on it. ? ill just do it and see how it looks... -Jill --[[User:Z3265772|z3265772]] 01:47, 15 September 2010 (UTC)<br /> <br /> <br /> hmm good idea.. btw what article did you find the terms for the prenatal diagnosis? should i incorporate that in the results section? --[[User:Z3224500|Jenny Huang]] 15:19, 14 September 2010 (UTC)<br /> <br /> <br /> maybe we could also do ethical issues? -Jill --[[User:Z3265772|z3265772]] 12:35, 14 September 2010 (UTC)<br /> <br /> Just an idea if we wanted to add more to the page, we could do another table, with the different diagnostic techniques used - eg ultrasound, AFP, amniocentesis and CVS etc and do a timeline with when each technique can be used, what it can test for, and how invasive it is. i know its not directly CVS, but it will give a good overview of the advantages and disadvantages etc. and im running out of ideas of what else we can have on here. can you think of anything else? -Jill --[[User:Z3265772|z3265772]] 12:30, 14 September 2010 (UTC)<br /> <br /> <br /> Found out its due thurs, Sorry!! im doing malformations now, but we definitely need to add more content, last years pages had over 600 revisions, we only have 200. So add whatever you think we could do to improve the page. Thanks for your help over the weekend, i did feel alone in creating the page! Looks great now though! Maybe we could look at last years pages and see what we like about them, and maybe get some ideas on how to add to our page. im trying to put alot of effort in as its worth 20% of our final mark :) ive also added to the malformations part, ill keep doing that. Thanks!! -Jill --[[User:Z3265772|z3265772]] 02:24, 13 September 2010 (UTC)<br /> <br /> <br /> <br /> Hey can't make it to lecture today.. but if its due for peer assesment today/this week, what suggestions do you think we can improve on? hmm also whos doing the part on malformations? --[[User:Z3224500|Jenny Huang]] 23:07, 12 September 2010 (UTC)<br /> <br /> <br /> yeah good question.. ill see if i can find something more recent and let you know. i guess it would be. also, hope you dont mind, i put some of your references in, and added some pictures :) -Jill --[[User:Z3265772|z3265772]] 13:00, 12 September 2010 (UTC)<br /> <br /> <br /> Hey for the section on malformations in current research, would it be limb defects? the articles I found were mostly from the 1990s so I'm not sure if I should use..--[[User:Z3224500|Jenny Huang]] 12:49, 12 September 2010 (UTC)<br /> <br /> <br /> Yay it looks neat!!!glad you figured out how to fix the formatting.. It was rather confusing before haha. SOrry if it seems like you are doing most of the work :( I'll add to the current research to lighten off your load.i'll be working on it most of the weekend--[[User:Z3224500|Jenny Huang]] 16:39, 10 September 2010 (UTC)<br /> <br /> <br /> I made a table!! it took AGES but it looks good :) we probably need to spread everything out a bit, it looks a bit crowded, but getting there! i separated the risks from current research :)- Jill --[[User:Z3265772|z3265772]] 12:03, 10 September 2010 (UTC)<br /> <br /> <br /> <br /> Hmm it didn't take that long.. btw I've already done it but I haven't uploaded it yet but I'll do so now... hmm by the way should the heading &quot;risks&quot; be separate from the &quot;current assosciated research&quot; heading?--[[User:Z3224500|Jenny Huang]] 02:53, 10 September 2010 (UTC)<br /> <br /> Hey! Did it take long to do the drawing for the transabdominal technique? i was thinking we could do a second one the same for transcervical. what do you think? - Jill --[[User:Z3265772|z3265772]] 02:09, 10 September 2010 (UTC)<br /> <br /> <br /> <br /> Im pretty sure its due monday for peer assessment, thats what it says in the course guide. did he say it was due thurs in the lab last week? hope its due thurs! that would be awesome! - Jill --[[User:Z3265772|z3265772]] 12:00, 9 September 2010 (UTC)<br /> <br /> <br /> <br /> <br /> Hey Jill, wow only 4 days! I was mistaken that it was due next thursday. But don't wrry, I'll have the whole weekend to finish up ;)--[[User:Z3224500|Jenny Huang]] 08:30, 9 September 2010 (UTC)<br /> <br /> <br /> <br /> <br /> Hi! Ive used a reference that is not from pub med, so you can copy that to use references that arent in pub med. :) only 4 days till its due! - Jill --[[User:Z3265772|z3265772]] 01:29, 9 September 2010 (UTC)<br /> <br /> <br /> <br /> <br /> some pictures we can use, this first one is Primary chorionic villi, the second picture is secondary chorionic villi, these may be helpful when describing the technique -Jill --[[User:Z3265772|z3265772]] 09:52, 7 September 2010 (UTC)<br /> <br /> <br /> [[File:Gray36.png|left|400 px]]<br /> <br /> <br /> [[File:Gray37.png|left|400 px]]<br /> <br /> <br /> <br /> <br /> <br /> <br /> Hmm so basically we do the peer review the week after mid sem break until the 23rd of september, and we paste both the review on the groups page and on your own page... also apparently the other student discontinued the course so its just us doing the project now =S --[[User:Z3224500|Jenny Huang]] 03:02, 2 September 2010 (UTC)<br /> <br /> <br /> <br /> Yay!! looks awesome!! Sorry i couldnt be there today, could you let me know what Mark says? thanks :) - Jill --[[User:Z3265772|z3265772]] 23:59, 1 September 2010 (UTC)<br /> <br /> <br /> <br /> I've uploaded the first pic... I hope it's ok and if I did the layers wrongly please tell me so I can edit... also how do you do referencing that is not from pubmed journals?--[[User:Z3224500|Jenny]] 23:18, 1 September 2010 (UTC)<br /> <br /> <br /> <br /> Hi Jenny, are you doing the drawn figure still? would you possibly be able to upload it before thursday? i have updated references for my section :) - Jill --[[User:Z3265772|z3265772]] 08:52, 1 September 2010 (UTC)<br /> <br /> <br /> <br /> --[[User:S8600021|Mark Hill]] 00:49, 31 August 2010 (UTC) I have emailed your missing team member , but have not had a response yet. Your should continue to work on the project together as best you can. It seems to be progressing, though I did ask you to update your reference format and I do not see a student drawn figure. You need to have this updated before this weeks lab when I will be reviewing all projects.<br /> <br /> <br /> <br /> <br /> <br /> Hi Jill, I'm working on it :) by the way have you heard from the other team member? Oh and I'll be drawing pictures for both the transcervical and transabdominal techniques..--[[User:Z3224500|Jenny Huang]] 07:46, 30 August 2010 (UTC)<br /> <br /> <br /> <br /> Hi guys, only two weeks to go, we really need to do some more work, the editing at the end will be the hardest, so the sooner we finish, the easier it will be. - Jill--[[User:Z3265772|z3265772]] 23:46, 29 August 2010 (UTC)<br /> <br /> <br /> <br /> Can we incorporate some sort of timeline? what do you think? maybe we can do a timeline of embryo development and note the time that CVS is done - Jill --[[User:Z3265772|z3265772]] 00:57, 26 August 2010 (UTC)<br /> <br /> <br /> <br /> Mark has kindly shown us how to reference, ill try to sort that out tonight or tomorrow - Jill --[[User:Z3265772|z3265772]] 23:16, 25 August 2010 (UTC)<br /> <br /> <br /> <br /> Ive just discovered, you can use almost any picture on wiki, the copyrights have usually expired, which is why wiki can use them, just search CVS on wiki and if there is a picture you like, check the copyright and copy away!! :D -Jill --[[User:Z3265772|z3265772]] 01:05, 25 August 2010 (UTC)<br /> <br /> <br /> <br /> Hi guys, please feel free to edit any work i have done, or add to it, or even suggest to me on this page what to add. what i have put up so far really is a rough draft and will be trying to add to it later anyway :) -Jill --[[User:Z3265772|z3265772]] 00:50, 25 August 2010 (UTC)<br /> <br /> <br /> <br /> {{Template:Projects10MHtalk}}<br /> <br /> <br /> <br /> Hi guys, we need to get on top of this, its due for peer assessment in 3 weeks! Im going to do related research. does anyone want to do the drawing? ill also try and get some more references and photos up, as Mark has suggested. If you want a picture, just email the website with the picture on it, thats what ive been doing, they are usually pretty good about it. let me know of any other ideas you guys might have - Jill --[[User:Z3265772|z3265772]] 09:50, 23 August 2010 (UTC)<br /> <br /> <br /> <br /> --[[User:S8600021|Mark Hill]] 04:35, 23 August 2010 (UTC) OK there are a few references here, but you will need more than these few and there should be some related images.<br /> <br /> <br /> <br /> Link for group assessment criteria: [[2010_Lab_1#Group_Assessment_Criteria|group assessment criteria]] - Jill--[[User:Z3265772|z3265772]] 00:50, 25 August 2010 (UTC)<br /> <br /> <br /> <br /> For current associated research:<br /> <br /> <br /> http://onlinelibrary.wiley.com/doi/10.1002/pd.2410/abstract<br /> <br /> http://www.ncbi.nlm.nih.gov/pubmed/11263542<br /> <br /> http://www.ncbi.nlm.nih.gov/pubmed/19683693<br /> <br /> http://www.sciencedirect.com/science?_ob=ArticleURL&amp;_udi=B6T7V-4BWVXPY-F9&amp;_user=10&amp;_coverDate=03%2F31%2F1994&amp;_rdoc=1&amp;_fmt=high&amp;_orig=search&amp;_sort=d&amp;_docanchor=&amp;view=c&amp;_searchStrId=1427646674&amp;_rerunOrigin=google&amp;_acct=C000050221&amp;_version=1&amp;_urlVersion=0&amp;_userid=10&amp;md5=a3c3f2d47ad01c562a3baea8c60a48bc<br /> <br /> http://www.informaworld.com/smpp/content~db=all~content=a913951525<br /> <br /> http://www.escardiocontent.org/periodicals/ejcpr/article/S0002-9378%2807%2900305-5/abstract<br /> <br /> http://humrep.oxfordjournals.org/cgi/content/abstract/3/6/811<br /> <br /> - Jill--[[User:Z3265772|z3265772]] 00:50, 25 August 2010 (UTC)<br /> <br /> Hi guys, i put up the link for Search Pubmed for our topic, did we want to assign ourselves a role to do or just see how the page goes? i thought maybe we could find a page that we like and follow a similar format, that way we know what our page will look like and can follow a layout as we go. -Jill --[[User:Z3265772|z3265772]] 01:12, 9 August 2010 (UTC)<br /> <br /> <br /> also, see this web page http://www.cdc.gov/mmwr/preview/mmwrhtml/00038393.htm Jill --[[User:Z3265772|z3265772]] 11:16, 9 August 2010 (UTC)<br /> <br /> <br /> project outline: <br /> <br /> 1. Intro<br /> <br /> 2. historic background<br /> <br /> 3. current associated research<br /> <br /> 4. simplified description of technique<br /> <br /> http://journals.lww.com/co-obgyn/Abstract/2010/04000/Chorionic_villus_sampling__technique_and_training.11.aspx<br /> <br /> 5. student drawn figure or animation<br /> <br /> 6. reference list<br /> <br /> 7. glossary<br /> <br /> 8. external links<br /> <br /> -Jill --[[User:Z3265772|z3265772]] 03:05, 11 August 2010 (UTC)<br /> <br /> <br /> Can anyone tell me how to paste a picture from an outside source? i cant seem to figure it out. thanks :) <br /> -Jill --[[User:Z3265772|z3265772]] 05:03, 11 August 2010 (UTC)<br /> <br /> dont worry, i figured it out :)<br /> <br /> <br /> i think we should put the references list on this page to begin with to make sure we dont double up <br /> - Jill --[[User:Z3265772|z3265772]] 05:31, 11 August 2010 (UTC)<br /> <br /> Hey guys sorry for the delay in replies. I see you have made a contribution to the topic already :) By the way, where did you find the project outline criteria? Oh and if you don't mind I can do research on the description of technique and current research. Feel free to contribute :) oh and any ideas on how to work on the drawings? --[[User:Z3224500|Jenny Huang]] 15:29, 11 August 2010 (UTC)<br /> <br /> <br /> Hello guys,<br /> <br /> So I found some journal articles that is of interest especially this one: http://apps.who.int/rhl/reviews/langs/CD003252.pdf which is long and has extensive information on the topic..<br /> So I'll be editing my section in word and will be posting some info on technique in the future.<br /> <br /> Btw here are some other articles that are of interest that can be accessed through unsw sirius:<br /> <br /> <br /> <br /> http://linkinghub.elsevier.com/retrieve/pii/S0889854505702916<br /> <br /> http://journals.lww.com/co-obgyn/Abstract/2010/04000/Chorionic_villus_sampling__technique_and_training.11.aspx<br /> <br /> http://journals.lww.com/co-obgyn/Abstract/2005/04000/Chorionic_villus_sampling_and_amniocentesis.16.aspx<br /> <br /> Complications:<br /> <br /> http://journals.lww.com/greenjournal/Abstract/2007/09000/Procedure_Related_Complications_of_Amniocentesis.24.aspx<br /> <br /> http://journals.lww.com/greenjournal/Abstract/2008/10000/Evaluating_the_Rate_and_Risk_Factors_for_Fetal.12.aspx<br /> <br /> I'll be adding more once I find some that are useful..<br /> <br /> <br /> Oh and about the topic headings are we just going to use the ones in the assesment criteria?<br /> <br /> <br /> --[[User:Z3224500|z3224500]] 15:03, 24 August 2010 (UTC)<br /> <br /> <br /> Hey Jenny!! i think its a great idea to use more headings, add as many as you like/can think of, i just cant think of any more. i think the assessment criteria is just the bare minimum we have to do, so please add more! Also, can we add the new discussion posts to the top of the page? so we dont have to scroll to the bottom every time? what do you think? (it says up the top of this page to add newer material at the top, just wondering what you thought). i really like the articles you have found too :) see you tomorrow <br /> - Jill --[[User:Z3265772|z3265772]] 00:29, 25 August 2010 (UTC)</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=Talk:2010_Group_Project_2&diff=38174 2010-09-24T04:25:31Z

<p>Z3265772: /* to fix */</p> <hr /> <div>Hey Jenny, do you think Mosaicism should be in the abnormalities found by CVS section? a few people have commented that its a bit confusing what the test detects and the risks associated with testing. i think Mosaicism is more under the heading of what cvs detects --[[User:Z3265772|z3265772]] 04:16, 23 September 2010 (UTC)<br /> <br /> ===to fix===<br /> <br /> '''Begin''' by collating the comments.<br /> * What are the common criticisms?<br /> * What were the best aspects identified within your project?<br /> * What errors, typos, missing references were identified?<br /> * Were there contributions from individual group members that were identified as good or poor parts of the overall project?<br /> <br /> '''Then''' work on the changes.<br /> * Develop priorities.<br /> * Divide the changes and corrections between group members.<br /> * Are there additional changes that should be made that were not identified by peer assessment.<br /> <br /> <br /> '''Jill:'''<br /> <br /> abnormalities, maybe just adjust the cells of the table a little so the spacing appears more even as some cells have very little content while others are completely filled. What about the future of CVS? Is it a procedure that is going to continue as simply diagnostic? Is it being superseded by another procedure? comparative genomics, Improvements?<br /> <br /> future role of CVS in prenatal diagnosis or even the role of invasive procedures altogether<br /> <br /> DONE move glossary above references so you dont have to scroll all the way down to read them<br /> <br /> DONE table comparing other techniques<br /> <br /> DONE got confused between the risks of this test and what it predicted (this will be clear in the above table)<br /> <br /> DONE -it didn't state that the test was invasive in intro (table)<br /> <br /> DONE -All spelling amd grammar - some more editing of spelling is required<br /> <br /> DONE &quot;abnormalities found by CVS&quot; section towards the top of the page coz I got confused between the risks of this test and what it predicted<br /> <br /> DONE -link or a reference to the brief time line where you state the names of the authors <br /> <br /> DONE -The only advice I can give is to maybe separate the difference between normal and abnormal chromosomes and the adjacent table to allow the table more room and be easily viewed <br /> <br /> DONE -I just wonder where the files came from – I saw you put up the copyright notices, but I couldn’t find the file sources <br /> <br /> DONE -a little more reference in the &quot;result and accuracy&quot; section since it includes some percentage other than that fantastic work <br /> <br /> DONE - it would be that you put the advantages/disadvantages of CVS over other techniques in a table.<br /> <br /> <br /> <br /> <br /> '''Jenny:'''<br /> <br /> flowchart or more pictures of procedure <br /> <br /> possibly more pictures or a flowchart of the procedure itself? <br /> <br /> outcomes + ethics,<br /> <br /> Are the transabdominal and the transcervical pictures the student-drawn ones? put up in discussion that you drew them and you give permission for re-use<br /> <br /> elaborate on procedure eg what cells are being taken etc and stages of chorionic villus in embryology<br /> <br /> Spelling and grammar, - Jenny, ive gone through the page and edited the spelling mistakes i could find, could you please do the same incase ive missed any? and double check the sections you are about to write? Thanks :) - Jill --[[User:Z3265772|z3265772]] 00:33, 24 September 2010 (UTC)<br /> <br /> The current research section could be put more into point form to make it more inviting to read - not sure if you want to do this, i think its ok as it is, maybe just delete this suggestion? or add pictures of people researching? haha<br /> <br /> <br /> ----<br /> <br /> ==Peer Review==<br /> <br /> '''Please note!''' when posting your peer review, we only have two group members. the other one dropped out. Thanks :)<br /> <br /> --[[User:Z3129413]] 16:29, 22 September 2010 (UTC)<br /> I love those old timey pencil medical pictures and so for me this was really great, what instantly nailed the whole positive immediate impression was 'Reasons for getting chorionic villus sampling etc etc' right there at the beginning. Why would I get one? thanks very much. Perhaps a darker font would make it even better. Historical back ground is really good and technique pictures are of high standard. The table presentation of abnormalities found and ratios is such an effective way of portraying this information.<br /> <br /> A few Q's with the hypertension cvs topic, <br /> Is there a normally expected percent of women in a large population to develop hypertensive disorders, just for perspective? CVS would not lower incidences of such surely (9098 pop, 2.7% to 7.1% control). 138 study size seems a bit low, is result really much more significant? However I did understand that CVS was more risk prone than amniocentesis for pre eclampsia and gestational hypertension.<br /> This project is well on track.<br /> <br /> <br /> <br /> <br /> Group 2: Your project is very impressive in content as well as organisation. The most notable thing for me was the wide use of pictures which must have taken a lot of time and effort to source. They definitely create an engaging page especially in conjunction with the use of tables and clear subheadings. The structure you have used is very effective as it allows your information to be scientific and thorough but at the same time it is concise and easy to navigate. I felt like i got an extensive overview of CVS after having read your page and the use of pictures and subheadings kept it from being a chore. I felt the history and abnormalities sections were particularly interesting. I also appreciate how you have seemed to approach this topic from all angles and not just a one-sided, all current and positive viewpoint. To improve your page perhaps you could explore the future role of CVS in prenatal diagnosis or even the role of invasive procedures altogether. Either way your page is probably up to standard as it is and it is obvious that you have worked hard at it. Job well done.<br /> --[[User:Z3293029|z3293029]] 14:38, 22 September 2010 (UTC)<br /> <br /> <br /> <br /> <br /> <br /> <br /> Group 2: fantastic use of images, it definitely worked to your advantage in engaging your audience's attention. Over all the language used is relatively easy to follow yet informative. As someone has already mentioned, some more editing of spelling is required. The amount of attention to detail is evident in the references which are from a range of sources so well done. I particularly liked that the page covered accuracy and limitations of the diagnostic procedure. Something that lacked clarity in a few other groups. Good use of the table covering the abnormalities, maybe just adjust the cells of the table a little so the spacing appears more even as some cells have very little content while others are completely filled. What about the future of CVS? Is it a procedure that is going to continue as simply diagnostic? Is it being superseded by another procedure? Improvements?<br /> Just an idea. Well done overall. --z3241780 13:40, 22 September 2010 (UTC) <br /> <br /> <br /> '''GROUP 2: Chorionic Villi Sampling''' <br /> <br /> This page caught my attention as soon as I saw it and that made me want to read on and thus learn about Chorionic Villi Sampling. A lot of research has gone into this assignment and it’s evident in the information presented as its precise which also helps capture the readers. The amount of research is also evident in the long list of references. The webpage is actually extremely informative covering pretty much every aspect of the pre-natal diagnostic techniques. Your webpage has the most pictures and this helps it stand out as one of the best project pages. I really, really like the formatting and the tables. The images break up the information so you’re never overloaded with the amount of text. The only bit of criticism is spelling but this is extremely minor as you’ll pick up on the spelling mistakes when you go over the page. The language in is the right mixture of scientific language meaning that even people without a scientific background can understand the CVS. Great job guys you really can’t tell that only two people are in this group. It’s extremely good!!! I also really like the first picture you have, gives a page a really good feel to it.<br /> <br /> --[[User:Z3252635|z3252635]] 13:20, 22 September 2010 (UTC)<br /> <br /> <br /> <br /> Hi guys!<br /> <br /> You have found so many great pictures! Your page looks amazing. I just wonder where the files came from – I saw you put up the copyright notices, but I couldn’t find the file sources. Your timeline was great too; I really like how you put up the concise timeline and then expanded a bit on the major developments afterwards. Are the transabdominal and the transcervical pictures the student-drawn ones? If so, well done! They’re really clear and beautifully done, but you should probably label them as student drawn and put in the copyright statement. If I could suggest something, it would be that you put the advantages/disadvantages of CVS over other techniques in a table. Otherwise, your page is really easy to read, and again has brilliant visuals – great job!--[[User:Z3252833|z3252833]] 12:42, 22 September 2010 (UTC)<br /> <br /> <br /> CVS.<br /> <br /> Group 2, your project is looking great, the first thing i noticed when reading it is that there is lots of detail which shows a great depth of research has gone into it, which is supported by your reference list. Another thing is the amount of pictures which support the information and break it up to make it easier to take in so much information at once. The disorders table provides great detail and makes it interesting with the pictures.<br /> <br /> What could be improved: You could put the advantages/disadvantages into a table form to make it even easier to understand. The reasons to use this technique could be slotted into the procedure section instead of the introduction maybe as it shows who is eligible for the procedure. The current research section could be put more into point form to make it more inviting to read. But overall really great project.<br /> <br /> --[[User:Z3292208|z3292208]] 08:55, 22 September 2010 (UTC)<br /> <br /> <br /> This project is extremely well done. It seems a great effort has gone into proper referencing which also gives the impression of a thoughtful attempt. The balance of information mediums is great and the logical flow of ideas when reading through each section is perfect.<br /> Suggestion: possibly more pictures or a flowchart of the procedure itself? <br /> <br /> Well done :)<br /> <br /> --[[User:Z3254753|z3254753]] 16:55, 21 September 2010 (UTC)<br /> <br /> Group 2- This project had tons of photos which is super great because its much easier to follow... Most of the point made is supported with pictures ..definetly provided me a better understanding of CVS ..I agree with what others have mentioned its very informative and especially with just 2 team members .. fantastic work <br /> <br /> what could be improved = a little more reference in the &quot;result and accuracy&quot; section since it includes some percentage other than that fantastic work ..--[[User:Z3305561|Navneet Ahuja]] 12:53, 21 September 2010 (UTC)<br /> <br /> Group project 2: chorionic villus sampling <br /> <br /> This group had great images and the page layout was good too especially the tables which simplified the information and made it easier to read. The information presented was very informative, scientific, and all the key concepts were covered on the topic. The project had a very impressive reference list, and it did help in my understanding of this prenatal diagnostic technique.<br /> <br /> What could be improved?<br /> I did find a spelling mistake under the heading Results and Accuracy were you have written “maybe” instead of “baby”, so maybe proof read the assignment to pick up on any other possible spelling or grammatical errors, other than that well done.<br /> <br /> --[[User:Z3254433|z3254433]] 07:15, 20 September 2010 (UTC)<br /> <br /> This project was highly informative about CVS. It contained a lot of information in which it shows that a lot of research has gone into it. Everything has been covered like, what the test predicts and what risks are associated with this test. It was very scientific, yet easy to understand at a non-scientific level. I liked the external links how it directed me straight to a page of different articles about CVS. <br /> <br /> What could be improved is maybe placing the &quot;abnormalities found by CVS&quot; section towards the top of the page, because i was a bit unsure on what this test predicted in the first place. I got confused between the risks of this test and what it predicted. But I managed to understand it all once all read through. Also, a definition of a &quot;cannula&quot; may be helpful in the glossary too, i wasn't sure what that exactly was.<br /> <br /> --[[User:Z3291079|z3291079]] 02:48, 21 September 2010 (UTC)<br /> <br /> This project provides a clear understanding of the key information regarding CVS, such as how it is carried out, the risks and benfits of CVS, what it is used for as well as future research. I have find the pictures to be of a great help in explaining the procedure of CVS.<br /> <br /> One think I did notice was that, it didn't state that the test was invasive until you figure it out when you look at the pictures in the procedures. I think stating that in the introduction would make it clearer for readers to follow on with the information this projects provides having that knowledge in mind at the start.<br /> <br /> --[[User:Z3216889|3216889]] 12:13, 22 September 2010 (UTC)<br /> <br /> <br /> This web page is definitely one of my favorites. The information that you have provided is exceptional; the reference list is indicative of your extensive research. The table of deformities was a stand out for me as it was very well set out and was a effective break from the text. You also used excellent external links that were very well placed within the web page. A slight improvement would be to include a link or a reference to the brief time line where you state the names of the authors, and as previously mentioned, reference the statistics that you have included. Other than that, I applaud you for a job well done!--[[User:Z3252083|z3252083]] 12:22, 22 September 2010 (UTC)<br /> <br /> --Group 2 Chronic villus sampling<br /> This webpage shows that the group was very thorough in the research due to the amount of detail that has gone into it and its many links. The layout is very well set out which helps someone understand it if he/she has no previous knowledge of the concept. The use of pictures and diagrams were done well as it broke the page up making it very easy to read and take in the information. The only advice I can give is to maybe separate the difference between normal and abnormal chromosomes and the adjacent table to allow the table more room and be easily viewed. That’s all guys and well done considering you only had 2 people working on it. <br /> <br /> --[[User:Z3290040|3290040]] 10:19, 22 September 2010 (UTC)<br /> <br /> <br /> ----<br /> <br /> <br /> ----<br /> <br /> ===group discussion===<br /> <br /> <br /> I agree the page feels more &quot;in order&quot; now. yeh... its tough trying to find more information. I guess i'll expand on maybe on some of the abnormalities? I was thinking we can get pictures of the several diseases but it will probably be a little difficult due to copyright? hmm if i get new ideas from now until tommorrow i'll definately add more stuff in --[[User:Z3224500|Jenny Huang]] 06:38, 15 September 2010 (UTC)<br /> <br /> <br /> <br /> Hey Jenny, i changed the order of the page around, i think it makes more sense now, before it didnt really flow from one section to the next, i think its a bit better, i tried to do it on this order, Intro, history, procedure, results, risks, advantages. that order seems to be how most wiki pages are set up, and how mark sets up his pages. what do you think? -Jill --[[User:Z3265772|z3265772]] 02:14, 15 September 2010 (UTC)<br /> <br /> <br /> i think i searched prenatal diagnosis in the search box on the left, and mark has made a prenatal diagnosis page. the prenatal diagnosis terms were on that. ive been looking at last years pages, and they have so much content, but there just isnt that much information on CVS. theres only so much you can write about it. i guess we need to start thinking outside the box and adding general prenatal stuff on here too. thats why i thought maybe another table with a timeline of other techniques on it. ? ill just do it and see how it looks... -Jill --[[User:Z3265772|z3265772]] 01:47, 15 September 2010 (UTC)<br /> <br /> <br /> hmm good idea.. btw what article did you find the terms for the prenatal diagnosis? should i incorporate that in the results section? --[[User:Z3224500|Jenny Huang]] 15:19, 14 September 2010 (UTC)<br /> <br /> <br /> maybe we could also do ethical issues? -Jill --[[User:Z3265772|z3265772]] 12:35, 14 September 2010 (UTC)<br /> <br /> Just an idea if we wanted to add more to the page, we could do another table, with the different diagnostic techniques used - eg ultrasound, AFP, amniocentesis and CVS etc and do a timeline with when each technique can be used, what it can test for, and how invasive it is. i know its not directly CVS, but it will give a good overview of the advantages and disadvantages etc. and im running out of ideas of what else we can have on here. can you think of anything else? -Jill --[[User:Z3265772|z3265772]] 12:30, 14 September 2010 (UTC)<br /> <br /> <br /> Found out its due thurs, Sorry!! im doing malformations now, but we definitely need to add more content, last years pages had over 600 revisions, we only have 200. So add whatever you think we could do to improve the page. Thanks for your help over the weekend, i did feel alone in creating the page! Looks great now though! Maybe we could look at last years pages and see what we like about them, and maybe get some ideas on how to add to our page. im trying to put alot of effort in as its worth 20% of our final mark :) ive also added to the malformations part, ill keep doing that. Thanks!! -Jill --[[User:Z3265772|z3265772]] 02:24, 13 September 2010 (UTC)<br /> <br /> <br /> <br /> Hey can't make it to lecture today.. but if its due for peer assesment today/this week, what suggestions do you think we can improve on? hmm also whos doing the part on malformations? --[[User:Z3224500|Jenny Huang]] 23:07, 12 September 2010 (UTC)<br /> <br /> <br /> yeah good question.. ill see if i can find something more recent and let you know. i guess it would be. also, hope you dont mind, i put some of your references in, and added some pictures :) -Jill --[[User:Z3265772|z3265772]] 13:00, 12 September 2010 (UTC)<br /> <br /> <br /> Hey for the section on malformations in current research, would it be limb defects? the articles I found were mostly from the 1990s so I'm not sure if I should use..--[[User:Z3224500|Jenny Huang]] 12:49, 12 September 2010 (UTC)<br /> <br /> <br /> Yay it looks neat!!!glad you figured out how to fix the formatting.. It was rather confusing before haha. SOrry if it seems like you are doing most of the work :( I'll add to the current research to lighten off your load.i'll be working on it most of the weekend--[[User:Z3224500|Jenny Huang]] 16:39, 10 September 2010 (UTC)<br /> <br /> <br /> I made a table!! it took AGES but it looks good :) we probably need to spread everything out a bit, it looks a bit crowded, but getting there! i separated the risks from current research :)- Jill --[[User:Z3265772|z3265772]] 12:03, 10 September 2010 (UTC)<br /> <br /> <br /> <br /> Hmm it didn't take that long.. btw I've already done it but I haven't uploaded it yet but I'll do so now... hmm by the way should the heading &quot;risks&quot; be separate from the &quot;current assosciated research&quot; heading?--[[User:Z3224500|Jenny Huang]] 02:53, 10 September 2010 (UTC)<br /> <br /> Hey! Did it take long to do the drawing for the transabdominal technique? i was thinking we could do a second one the same for transcervical. what do you think? - Jill --[[User:Z3265772|z3265772]] 02:09, 10 September 2010 (UTC)<br /> <br /> <br /> <br /> Im pretty sure its due monday for peer assessment, thats what it says in the course guide. did he say it was due thurs in the lab last week? hope its due thurs! that would be awesome! - Jill --[[User:Z3265772|z3265772]] 12:00, 9 September 2010 (UTC)<br /> <br /> <br /> <br /> <br /> Hey Jill, wow only 4 days! I was mistaken that it was due next thursday. But don't wrry, I'll have the whole weekend to finish up ;)--[[User:Z3224500|Jenny Huang]] 08:30, 9 September 2010 (UTC)<br /> <br /> <br /> <br /> <br /> Hi! Ive used a reference that is not from pub med, so you can copy that to use references that arent in pub med. :) only 4 days till its due! - Jill --[[User:Z3265772|z3265772]] 01:29, 9 September 2010 (UTC)<br /> <br /> <br /> <br /> <br /> some pictures we can use, this first one is Primary chorionic villi, the second picture is secondary chorionic villi, these may be helpful when describing the technique -Jill --[[User:Z3265772|z3265772]] 09:52, 7 September 2010 (UTC)<br /> <br /> <br /> [[File:Gray36.png|left|400 px]]<br /> <br /> <br /> [[File:Gray37.png|left|400 px]]<br /> <br /> <br /> <br /> <br /> <br /> <br /> Hmm so basically we do the peer review the week after mid sem break until the 23rd of september, and we paste both the review on the groups page and on your own page... also apparently the other student discontinued the course so its just us doing the project now =S --[[User:Z3224500|Jenny Huang]] 03:02, 2 September 2010 (UTC)<br /> <br /> <br /> <br /> Yay!! looks awesome!! Sorry i couldnt be there today, could you let me know what Mark says? thanks :) - Jill --[[User:Z3265772|z3265772]] 23:59, 1 September 2010 (UTC)<br /> <br /> <br /> <br /> I've uploaded the first pic... I hope it's ok and if I did the layers wrongly please tell me so I can edit... also how do you do referencing that is not from pubmed journals?--[[User:Z3224500|Jenny]] 23:18, 1 September 2010 (UTC)<br /> <br /> <br /> <br /> Hi Jenny, are you doing the drawn figure still? would you possibly be able to upload it before thursday? i have updated references for my section :) - Jill --[[User:Z3265772|z3265772]] 08:52, 1 September 2010 (UTC)<br /> <br /> <br /> <br /> --[[User:S8600021|Mark Hill]] 00:49, 31 August 2010 (UTC) I have emailed your missing team member , but have not had a response yet. Your should continue to work on the project together as best you can. It seems to be progressing, though I did ask you to update your reference format and I do not see a student drawn figure. You need to have this updated before this weeks lab when I will be reviewing all projects.<br /> <br /> <br /> <br /> <br /> <br /> Hi Jill, I'm working on it :) by the way have you heard from the other team member? Oh and I'll be drawing pictures for both the transcervical and transabdominal techniques..--[[User:Z3224500|Jenny Huang]] 07:46, 30 August 2010 (UTC)<br /> <br /> <br /> <br /> Hi guys, only two weeks to go, we really need to do some more work, the editing at the end will be the hardest, so the sooner we finish, the easier it will be. - Jill--[[User:Z3265772|z3265772]] 23:46, 29 August 2010 (UTC)<br /> <br /> <br /> <br /> Can we incorporate some sort of timeline? what do you think? maybe we can do a timeline of embryo development and note the time that CVS is done - Jill --[[User:Z3265772|z3265772]] 00:57, 26 August 2010 (UTC)<br /> <br /> <br /> <br /> Mark has kindly shown us how to reference, ill try to sort that out tonight or tomorrow - Jill --[[User:Z3265772|z3265772]] 23:16, 25 August 2010 (UTC)<br /> <br /> <br /> <br /> Ive just discovered, you can use almost any picture on wiki, the copyrights have usually expired, which is why wiki can use them, just search CVS on wiki and if there is a picture you like, check the copyright and copy away!! :D -Jill --[[User:Z3265772|z3265772]] 01:05, 25 August 2010 (UTC)<br /> <br /> <br /> <br /> Hi guys, please feel free to edit any work i have done, or add to it, or even suggest to me on this page what to add. what i have put up so far really is a rough draft and will be trying to add to it later anyway :) -Jill --[[User:Z3265772|z3265772]] 00:50, 25 August 2010 (UTC)<br /> <br /> <br /> <br /> {{Template:Projects10MHtalk}}<br /> <br /> <br /> <br /> Hi guys, we need to get on top of this, its due for peer assessment in 3 weeks! Im going to do related research. does anyone want to do the drawing? ill also try and get some more references and photos up, as Mark has suggested. If you want a picture, just email the website with the picture on it, thats what ive been doing, they are usually pretty good about it. let me know of any other ideas you guys might have - Jill --[[User:Z3265772|z3265772]] 09:50, 23 August 2010 (UTC)<br /> <br /> <br /> <br /> --[[User:S8600021|Mark Hill]] 04:35, 23 August 2010 (UTC) OK there are a few references here, but you will need more than these few and there should be some related images.<br /> <br /> <br /> <br /> Link for group assessment criteria: [[2010_Lab_1#Group_Assessment_Criteria|group assessment criteria]] - Jill--[[User:Z3265772|z3265772]] 00:50, 25 August 2010 (UTC)<br /> <br /> <br /> <br /> For current associated research:<br /> <br /> <br /> http://onlinelibrary.wiley.com/doi/10.1002/pd.2410/abstract<br /> <br /> http://www.ncbi.nlm.nih.gov/pubmed/11263542<br /> <br /> http://www.ncbi.nlm.nih.gov/pubmed/19683693<br /> <br /> http://www.sciencedirect.com/science?_ob=ArticleURL&amp;_udi=B6T7V-4BWVXPY-F9&amp;_user=10&amp;_coverDate=03%2F31%2F1994&amp;_rdoc=1&amp;_fmt=high&amp;_orig=search&amp;_sort=d&amp;_docanchor=&amp;view=c&amp;_searchStrId=1427646674&amp;_rerunOrigin=google&amp;_acct=C000050221&amp;_version=1&amp;_urlVersion=0&amp;_userid=10&amp;md5=a3c3f2d47ad01c562a3baea8c60a48bc<br /> <br /> http://www.informaworld.com/smpp/content~db=all~content=a913951525<br /> <br /> http://www.escardiocontent.org/periodicals/ejcpr/article/S0002-9378%2807%2900305-5/abstract<br /> <br /> http://humrep.oxfordjournals.org/cgi/content/abstract/3/6/811<br /> <br /> - Jill--[[User:Z3265772|z3265772]] 00:50, 25 August 2010 (UTC)<br /> <br /> Hi guys, i put up the link for Search Pubmed for our topic, did we want to assign ourselves a role to do or just see how the page goes? i thought maybe we could find a page that we like and follow a similar format, that way we know what our page will look like and can follow a layout as we go. -Jill --[[User:Z3265772|z3265772]] 01:12, 9 August 2010 (UTC)<br /> <br /> <br /> also, see this web page http://www.cdc.gov/mmwr/preview/mmwrhtml/00038393.htm Jill --[[User:Z3265772|z3265772]] 11:16, 9 August 2010 (UTC)<br /> <br /> <br /> project outline: <br /> <br /> 1. Intro<br /> <br /> 2. historic background<br /> <br /> 3. current associated research<br /> <br /> 4. simplified description of technique<br /> <br /> http://journals.lww.com/co-obgyn/Abstract/2010/04000/Chorionic_villus_sampling__technique_and_training.11.aspx<br /> <br /> 5. student drawn figure or animation<br /> <br /> 6. reference list<br /> <br /> 7. glossary<br /> <br /> 8. external links<br /> <br /> -Jill --[[User:Z3265772|z3265772]] 03:05, 11 August 2010 (UTC)<br /> <br /> <br /> Can anyone tell me how to paste a picture from an outside source? i cant seem to figure it out. thanks :) <br /> -Jill --[[User:Z3265772|z3265772]] 05:03, 11 August 2010 (UTC)<br /> <br /> dont worry, i figured it out :)<br /> <br /> <br /> i think we should put the references list on this page to begin with to make sure we dont double up <br /> - Jill --[[User:Z3265772|z3265772]] 05:31, 11 August 2010 (UTC)<br /> <br /> Hey guys sorry for the delay in replies. I see you have made a contribution to the topic already :) By the way, where did you find the project outline criteria? Oh and if you don't mind I can do research on the description of technique and current research. Feel free to contribute :) oh and any ideas on how to work on the drawings? --[[User:Z3224500|Jenny Huang]] 15:29, 11 August 2010 (UTC)<br /> <br /> <br /> Hello guys,<br /> <br /> So I found some journal articles that is of interest especially this one: http://apps.who.int/rhl/reviews/langs/CD003252.pdf which is long and has extensive information on the topic..<br /> So I'll be editing my section in word and will be posting some info on technique in the future.<br /> <br /> Btw here are some other articles that are of interest that can be accessed through unsw sirius:<br /> <br /> <br /> <br /> http://linkinghub.elsevier.com/retrieve/pii/S0889854505702916<br /> <br /> http://journals.lww.com/co-obgyn/Abstract/2010/04000/Chorionic_villus_sampling__technique_and_training.11.aspx<br /> <br /> http://journals.lww.com/co-obgyn/Abstract/2005/04000/Chorionic_villus_sampling_and_amniocentesis.16.aspx<br /> <br /> Complications:<br /> <br /> http://journals.lww.com/greenjournal/Abstract/2007/09000/Procedure_Related_Complications_of_Amniocentesis.24.aspx<br /> <br /> http://journals.lww.com/greenjournal/Abstract/2008/10000/Evaluating_the_Rate_and_Risk_Factors_for_Fetal.12.aspx<br /> <br /> I'll be adding more once I find some that are useful..<br /> <br /> <br /> Oh and about the topic headings are we just going to use the ones in the assesment criteria?<br /> <br /> <br /> --[[User:Z3224500|z3224500]] 15:03, 24 August 2010 (UTC)<br /> <br /> <br /> Hey Jenny!! i think its a great idea to use more headings, add as many as you like/can think of, i just cant think of any more. i think the assessment criteria is just the bare minimum we have to do, so please add more! Also, can we add the new discussion posts to the top of the page? so we dont have to scroll to the bottom every time? what do you think? (it says up the top of this page to add newer material at the top, just wondering what you thought). i really like the articles you have found too :) see you tomorrow <br /> - Jill --[[User:Z3265772|z3265772]] 00:29, 25 August 2010 (UTC)</div>

Z3265772 https://embryology.med.unsw.edu.au/embryology/index.php?title=Talk:2010_Group_Project_2&diff=38173 2010-09-24T04:22:47Z

<p>Z3265772: </p> <hr /> <div>Hey Jenny, do you think Mosaicism should be in the abnormalities found by CVS section? a few people have commented that its a bit confusing what the test detects and the risks associated with testing. i think Mosaicism is more under the heading of what cvs detects --[[User:Z3265772|z3265772]] 04:16, 23 September 2010 (UTC)<br /> <br /> ===to fix===<br /> <br /> '''Begin''' by collating the comments.<br /> * What are the common criticisms?<br /> * What were the best aspects identified within your project?<br /> * What errors, typos, missing references were identified?<br /> * Were there contributions from individual group members that were identified as good or poor parts of the overall project?<br /> <br /> '''Then''' work on the changes.<br /> * Develop priorities.<br /> * Divide the changes and corrections between group members.<br /> * Are there additional changes that should be made that were not identified by peer assessment.<br /> <br /> <br /> '''Jill:'''<br /> <br /> abnormalities, maybe just adjust the cells of the table a little so the spacing appears more even as some cells have very little content while others are completely filled. What about the future of CVS? Is it a procedure that is going to continue as simply diagnostic? Is it being superseded by another procedure? comparative genomics, Improvements?<br /> <br /> future role of CVS in prenatal diagnosis or even the role of invasive procedures altogether<br /> <br /> DONE table comparing other techniques<br /> <br /> DONE got confused between the risks of this test and what it predicted (this will be clear in the above table)<br /> <br /> DONE -it didn't state that the test was invasive in intro (table)<br /> <br /> DONE -All spelling amd grammar - some more editing of spelling is required<br /> <br /> DONE &quot;abnormalities found by CVS&quot; section towards the top of the page coz I got confused between the risks of this test and what it predicted<br /> <br /> DONE -link or a reference to the brief time line where you state the names of the authors <br /> <br /> DONE -The only advice I can give is to maybe separate the difference between normal and abnormal chromosomes and the adjacent table to allow the table more room and be easily viewed <br /> <br /> DONE -I just wonder where the files came from – I saw you put up the copyright notices, but I couldn’t find the file sources <br /> <br /> DONE -a little more reference in the &quot;result and accuracy&quot; section since it includes some percentage other than that fantastic work <br /> <br /> DONE - it would be that you put the advantages/disadvantages of CVS over other techniques in a table.<br /> <br /> <br /> <br /> <br /> '''Jenny:'''<br /> <br /> flowchart or more pictures of procedure <br /> <br /> possibly more pictures or a flowchart of the procedure itself? <br /> <br /> outcomes + ethics,<br /> <br /> Are the transabdominal and the transcervical pictures the student-drawn ones? put up in discussion that you drew them and you give permission for re-use<br /> <br /> elaborate on procedure eg what cells are being taken etc and stages of chorionic villus in embryology<br /> <br /> Spelling and grammar, - Jenny, ive gone through the page and edited the spelling mistakes i could find, could you please do the same incase ive missed any? and double check the sections you are about to write? Thanks :) - Jill --[[User:Z3265772|z3265772]] 00:33, 24 September 2010 (UTC)<br /> <br /> <br /> <br /> ----<br /> <br /> <br /> <br /> <br /> The current research section could be put more into point form to make it more inviting to read<br /> <br /> <br /> <br /> <br /> ----<br /> <br /> <br /> ==Peer Review==<br /> <br /> '''Please note!''' when posting your peer review, we only have two group members. the other one dropped out. Thanks :)<br /> <br /> --[[User:Z3129413]] 16:29, 22 September 2010 (UTC)<br /> I love those old timey pencil medical pictures and so for me this was really great, what instantly nailed the whole positive immediate impression was 'Reasons for getting chorionic villus sampling etc etc' right there at the beginning. Why would I get one? thanks very much. Perhaps a darker font would make it even better. Historical back ground is really good and technique pictures are of high standard. The table presentation of abnormalities found and ratios is such an effective way of portraying this information.<br /> <br /> A few Q's with the hypertension cvs topic, <br /> Is there a normally expected percent of women in a large population to develop hypertensive disorders, just for perspective? CVS would not lower incidences of such surely (9098 pop, 2.7% to 7.1% control). 138 study size seems a bit low, is result really much more significant? However I did understand that CVS was more risk prone than amniocentesis for pre eclampsia and gestational hypertension.<br /> This project is well on track.<br /> <br /> <br /> <br /> <br /> Group 2: Your project is very impressive in content as well as organisation. The most notable thing for me was the wide use of pictures which must have taken a lot of time and effort to source. They definitely create an engaging page especially in conjunction with the use of tables and clear subheadings. The structure you have used is very effective as it allows your information to be scientific and thorough but at the same time it is concise and easy to navigate. I felt like i got an extensive overview of CVS after having read your page and the use of pictures and subheadings kept it from being a chore. I felt the history and abnormalities sections were particularly interesting. I also appreciate how you have seemed to approach this topic from all angles and not just a one-sided, all current and positive viewpoint. To improve your page perhaps you could explore the future role of CVS in prenatal diagnosis or even the role of invasive procedures altogether. Either way your page is probably up to standard as it is and it is obvious that you have worked hard at it. Job well done.<br /> --[[User:Z3293029|z3293029]] 14:38, 22 September 2010 (UTC)<br /> <br /> <br /> <br /> <br /> <br /> <br /> Group 2: fantastic use of images, it definitely worked to your advantage in engaging your audience's attention. Over all the language used is relatively easy to follow yet informative. As someone has already mentioned, some more editing of spelling is required. The amount of attention to detail is evident in the references which are from a range of sources so well done. I particularly liked that the page covered accuracy and limitations of the diagnostic procedure. Something that lacked clarity in a few other groups. Good use of the table covering the abnormalities, maybe just adjust the cells of the table a little so the spacing appears more even as some cells have very little content while others are completely filled. What about the future of CVS? Is it a procedure that is going to continue as simply diagnostic? Is it being superseded by another procedure? Improvements?<br /> Just an idea. Well done overall. --z3241780 13:40, 22 September 2010 (UTC) <br /> <br /> <br /> '''GROUP 2: Chorionic Villi Sampling''' <br /> <br /> This page caught my attention as soon as I saw it and that made me want to read on and thus learn about Chorionic Villi Sampling. A lot of research has gone into this assignment and it’s evident in the information presented as its precise which also helps capture the readers. The amount of research is also evident in the long list of references. The webpage is actually extremely informative covering pretty much every aspect of the pre-natal diagnostic techniques. Your webpage has the most pictures and this helps it stand out as one of the best project pages. I really, really like the formatting and the tables. The images break up the information so you’re never overloaded with the amount of text. The only bit of criticism is spelling but this is extremely minor as you’ll pick up on the spelling mistakes when you go over the page. The language in is the right mixture of scientific language meaning that even people without a scientific background can understand the CVS. Great job guys you really can’t tell that only two people are in this group. It’s extremely good!!! I also really like the first picture you have, gives a page a really good feel to it.<br /> <br /> --[[User:Z3252635|z3252635]] 13:20, 22 September 2010 (UTC)<br /> <br /> <br /> <br /> Hi guys!<br /> <br /> You have found so many great pictures! Your page looks amazing. I just wonder where the files came from – I saw you put up the copyright notices, but I couldn’t find the file sources. Your timeline was great too; I really like how you put up the concise timeline and then expanded a bit on the major developments afterwards. Are the transabdominal and the transcervical pictures the student-drawn ones? If so, well done! They’re really clear and beautifully done, but you should probably label them as student drawn and put in the copyright statement. If I could suggest something, it would be that you put the advantages/disadvantages of CVS over other techniques in a table. Otherwise, your page is really easy to read, and again has brilliant visuals – great job!--[[User:Z3252833|z3252833]] 12:42, 22 September 2010 (UTC)<br /> <br /> <br /> CVS.<br /> <br /> Group 2, your project is looking great, the first thing i noticed when reading it is that there is lots of detail which shows a great depth of research has gone into it, which is supported by your reference list. Another thing is the amount of pictures which support the information and break it up to make it easier to take in so much information at once. The disorders table provides great detail and makes it interesting with the pictures.<br /> <br /> What could be improved: You could put the advantages/disadvantages into a table form to make it even easier to understand. The reasons to use this technique could be slotted into the procedure section instead of the introduction maybe as it shows who is eligible for the procedure. The current research section could be put more into point form to make it more inviting to read. But overall really great project.<br /> <br /> --[[User:Z3292208|z3292208]] 08:55, 22 September 2010 (UTC)<br /> <br /> <br /> This project is extremely well done. It seems a great effort has gone into proper referencing which also gives the impression of a thoughtful attempt. The balance of information mediums is great and the logical flow of ideas when reading through each section is perfect.<br /> Suggestion: possibly more pictures or a flowchart of the procedure itself? <br /> <br /> Well done :)<br /> <br /> --[[User:Z3254753|z3254753]] 16:55, 21 September 2010 (UTC)<br /> <br /> Group 2- This project had tons of photos which is super great because its much easier to follow... Most of the point made is supported with pictures ..definetly provided me a better understanding of CVS ..I agree with what others have mentioned its very informative and especially with just 2 team members .. fantastic work <br /> <br /> what could be improved = a little more reference in the &quot;result and accuracy&quot; section since it includes some percentage other than that fantastic work ..--[[User:Z3305561|Navneet Ahuja]] 12:53, 21 September 2010 (UTC)<br /> <br /> Group project 2: chorionic villus sampling <br /> <br /> This group had great images and the page layout was good too especially the tables which simplified the information and made it easier to read. The information presented was very informative, scientific, and all the key concepts were covered on the topic. The project had a very impressive reference list, and it did help in my understanding of this prenatal diagnostic technique.<br /> <br /> What could be improved?<br /> I did find a spelling mistake under the heading Results and Accuracy were you have written “maybe” instead of “baby”, so maybe proof read the assignment to pick up on any other possible spelling or grammatical errors, other than that well done.<br /> <br /> --[[User:Z3254433|z3254433]] 07:15, 20 September 2010 (UTC)<br /> <br /> This project was highly informative about CVS. It contained a lot of information in which it shows that a lot of research has gone into it. Everything has been covered like, what the test predicts and what risks are associated with this test. It was very scientific, yet easy to understand at a non-scientific level. I liked the external links how it directed me straight to a page of different articles about CVS. <br /> <br /> What could be improved is maybe placing the &quot;abnormalities found by CVS&quot; section towards the top of the page, because i was a bit unsure on what this test predicted in the first place. I got confused between the risks of this test and what it predicted. But I managed to understand it all once all read through. Also, a definition of a &quot;cannula&quot; may be helpful in the glossary too, i wasn't sure what that exactly was.<br /> <br /> --[[User:Z3291079|z3291079]] 02:48, 21 September 2010 (UTC)<br /> <br /> This project provides a clear understanding of the key information regarding CVS, such as how it is carried out, the risks and benfits of CVS, what it is used for as well as future research. I have find the pictures to be of a great help in explaining the procedure of CVS.<br /> <br /> One think I did notice was that, it didn't state that the test was invasive until you figure it out when you look at the pictures in the procedures. I think stating that in the introduction would make it clearer for readers to follow on with the information this projects provides having that knowledge in mind at the start.<br /> <br /> --[[User:Z3216889|3216889]] 12:13, 22 September 2010 (UTC)<br /> <br /> <br /> This web page is definitely one of my favorites. The information that you have provided is exceptional; the reference list is indicative of your extensive research. The table of deformities was a stand out for me as it was very well set out and was a effective break from the text. You also used excellent external links that were very well placed within the web page. A slight improvement would be to include a link or a reference to the brief time line where you state the names of the authors, and as previously mentioned, reference the statistics that you have included. Other than that, I applaud you for a job well done!--[[User:Z3252083|z3252083]] 12:22, 22 September 2010 (UTC)<br /> <br /> --Group 2 Chronic villus sampling<br /> This webpage shows that the group was very thorough in the research due to the amount of detail that has gone into it and its many links. The layout is very well set out which helps someone understand it if he/she has no previous knowledge of the concept. The use of pictures and diagrams were done well as it broke the page up making it very easy to read and take in the information. The only advice I can give is to maybe separate the difference between normal and abnormal chromosomes and the adjacent table to allow the table more room and be easily viewed. That’s all guys and well done considering you only had 2 people working on it. <br /> <br /> --[[User:Z3290040|3290040]] 10:19, 22 September 2010 (UTC)<br /> <br /> <br /> ----<br /> <br /> <br /> ----<br /> <br /> ===group discussion===<br /> <br /> <br /> I agree the page feels more &quot;in order&quot; now. yeh... its tough trying to find more information. I guess i'll expand on maybe on some of the abnormalities? I was thinking we can get pictures of the several diseases but it will probably be a little difficult due to copyright? hmm if i get new ideas from now until tommorrow i'll definately add more stuff in --[[User:Z3224500|Jenny Huang]] 06:38, 15 September 2010 (UTC)<br /> <br /> <br /> <br /> Hey Jenny, i changed the order of the page around, i think it makes more sense now, before it didnt really flow from one section to the next, i think its a bit better, i tried to do it on this order, Intro, history, procedure, results, risks, advantages. that order seems to be how most wiki pages are set up, and how mark sets up his pages. what do you think? -Jill --[[User:Z3265772|z3265772]] 02:14, 15 September 2010 (UTC)<br /> <br /> <br /> i think i searched prenatal diagnosis in the search box on the left, and mark has made a prenatal diagnosis page. the prenatal diagnosis terms were on that. ive been looking at last years pages, and they have so much content, but there just isnt that much information on CVS. theres only so much you can write about it. i guess we need to start thinking outside the box and adding general prenatal stuff on here too. thats why i thought maybe another table with a timeline of other techniques on it. ? ill just do it and see how it looks... -Jill --[[User:Z3265772|z3265772]] 01:47, 15 September 2010 (UTC)<br /> <br /> <br /> hmm good idea.. btw what article did you find the terms for the prenatal diagnosis? should i incorporate that in the results section? --[[User:Z3224500|Jenny Huang]] 15:19, 14 September 2010 (UTC)<br /> <br /> <br /> maybe we could also do ethical issues? -Jill --[[User:Z3265772|z3265772]] 12:35, 14 September 2010 (UTC)<br /> <br /> Just an idea if we wanted to add more to the page, we could do another table, with the different diagnostic techniques used - eg ultrasound, AFP, amniocentesis and CVS etc and do a timeline with when each technique can be used, what it can test for, and how invasive it is. i know its not directly CVS, but it will give a good overview of the advantages and disadvantages etc. and im running out of ideas of what else we can have on here. can you think of anything else? -Jill --[[User:Z3265772|z3265772]] 12:30, 14 September 2010 (UTC)<br /> <br /> <br /> Found out its due thurs, Sorry!! im doing malformations now, but we definitely need to add more content, last years pages had over 600 revisions, we only have 200. So add whatever you think we could do to improve the page. Thanks for your help over the weekend, i did feel alone in creating the page! Looks great now though! Maybe we could look at last years pages and see what we like about them, and maybe get some ideas on how to add to our page. im trying to put alot of effort in as its worth 20% of our final mark :) ive also added to the malformations part, ill keep doing that. Thanks!! -Jill --[[User:Z3265772|z3265772]] 02:24, 13 September 2010 (UTC)<br /> <br /> <br /> <br /> Hey can't make it to lecture today.. but if its due for peer assesment today/this week, what suggestions do you think we can improve on? hmm also whos doing the part on malformations? --[[User:Z3224500|Jenny Huang]] 23:07, 12 September 2010 (UTC)<br /> <br /> <br /> yeah good question.. ill see if i can find something more recent and let you know. i guess it would be. also, hope you dont mind, i put some of your references in, and added some pictures :) -Jill --[[User:Z3265772|z3265772]] 13:00, 12 September 2010 (UTC)<br /> <br /> <br /> Hey for the section on malformations in current research, would it be limb defects? the articles I found were mostly from the 1990s so I'm not sure if I should use..--[[User:Z3224500|Jenny Huang]] 12:49, 12 September 2010 (UTC)<br /> <br /> <br /> Yay it looks neat!!!glad you figured out how to fix the formatting.. It was rather confusing before haha. SOrry if it seems like you are doing most of the work :( I'll add to the current research to lighten off your load.i'll be working on it most of the weekend--[[User:Z3224500|Jenny Huang]] 16:39, 10 September 2010 (UTC)<br /> <br /> <br /> I made a table!! it took AGES but it looks good :) we probably need to spread everything out a bit, it looks a bit crowded, but getting there! i separated the risks from current research :)- Jill --[[User:Z3265772|z3265772]] 12:03, 10 September 2010 (UTC)<br /> <br /> <br /> <br /> Hmm it didn't take that long.. btw I've already done it but I haven't uploaded it yet but I'll do so now... hmm by the way should the heading &quot;risks&quot; be separate from the &quot;current assosciated research&quot; heading?--[[User:Z3224500|Jenny Huang]] 02:53, 10 September 2010 (UTC)<br /> <br /> Hey! Did it take long to do the drawing for the transabdominal technique? i was thinking we could do a second one the same for transcervical. what do you think? - Jill --[[User:Z3265772|z3265772]] 02:09, 10 September 2010 (UTC)<br /> <br /> <br /> <br /> Im pretty sure its due monday for peer assessment, thats what it says in the course guide. did he say it was due thurs in the lab last week? hope its due thurs! that would be awesome! - Jill --[[User:Z3265772|z3265772]] 12:00, 9 September 2010 (UTC)<br /> <br /> <br /> <br /> <br /> Hey Jill, wow only 4 days! I was mistaken that it was due next thursday. But don't wrry, I'll have the whole weekend to finish up ;)--[[User:Z3224500|Jenny Huang]] 08:30, 9 September 2010 (UTC)<br /> <br /> <br /> <br /> <br /> Hi! Ive used a reference that is not from pub med, so you can copy that to use references that arent in pub med. :) only 4 days till its due! - Jill --[[User:Z3265772|z3265772]] 01:29, 9 September 2010 (UTC)<br /> <br /> <br /> <br /> <br /> some pictures we can use, this first one is Primary chorionic villi, the second picture is secondary chorionic villi, these may be helpful when describing the technique -Jill --[[User:Z3265772|z3265772]] 09:52, 7 September 2010 (UTC)<br /> <br /> <br /> [[File:Gray36.png|left|400 px]]<br /> <br /> <br /> [[File:Gray37.png|left|400 px]]<br /> <br /> <br /> <br /> <br /> <br /> <br /> Hmm so basically we do the peer review the week after mid sem break until the 23rd of september, and we paste both the review on the groups page and on your own page... also apparently the other student discontinued the course so its just us doing the project now =S --[[User:Z3224500|Jenny Huang]] 03:02, 2 September 2010 (UTC)<br /> <br /> <br /> <br /> Yay!! looks awesome!! Sorry i couldnt be there today, could you let me know what Mark says? thanks :) - Jill --[[User:Z3265772|z3265772]] 23:59, 1 September 2010 (UTC)<br /> <br /> <br /> <br /> I've uploaded the first pic... I hope it's ok and if I did the layers wrongly please tell me so I can edit... also how do you do referencing that is not from pubmed journals?--[[User:Z3224500|Jenny]] 23:18, 1 September 2010 (UTC)<br /> <br /> <br /> <br /> Hi Jenny, are you doing the drawn figure still? would you possibly be able to upload it before thursday? i have updated references for my section :) - Jill --[[User:Z3265772|z3265772]] 08:52, 1 September 2010 (UTC)<br /> <br /> <br /> <br /> --[[User:S8600021|Mark Hill]] 00:49, 31 August 2010 (UTC) I have emailed your missing team member , but have not had a response yet. Your should continue to work on the project together as best you can. It seems to be progressing, though I did ask you to update your reference format and I do not see a student drawn figure. You need to have this updated before this weeks lab when I will be reviewing all projects.<br /> <br /> <br /> <br /> <br /> <br /> Hi Jill, I'm working on it :) by the way have you heard from the other team member? Oh and I'll be drawing pictures for both the transcervical and transabdominal techniques..--[[User:Z3224500|Jenny Huang]] 07:46, 30 August 2010 (UTC)<br /> <br /> <br /> <br /> Hi guys, only two weeks to go, we really need to do some more work, the editing at the end will be the hardest, so the sooner we finish, the easier it will be. - Jill--[[User:Z3265772|z3265772]] 23:46, 29 August 2010 (UTC)<br /> <br /> <br /> <br /> Can we incorporate some sort of timeline? what do you think? maybe we can do a timeline of embryo development and note the time that CVS is done - Jill --[[User:Z3265772|z3265772]] 00:57, 26 August 2010 (UTC)<br /> <br /> <br /> <br /> Mark has kindly shown us how to reference, ill try to sort that out tonight or tomorrow - Jill --[[User:Z3265772|z3265772]] 23:16, 25 August 2010 (UTC)<br /> <br /> <br /> <br /> Ive just discovered, you can use almost any picture on wiki, the copyrights have usually expired, which is why wiki can use them, just search CVS on wiki and if there is a picture you like, check the copyright and copy away!! :D -Jill --[[User:Z3265772|z3265772]] 01:05, 25 August 2010 (UTC)<br /> <br /> <br /> <br /> Hi guys, please feel free to edit any work i have done, or add to it, or even suggest to me on this page what to add. what i have put up so far really is a rough draft and will be trying to add to it later anyway :) -Jill --[[User:Z3265772|z3265772]] 00:50, 25 August 2010 (UTC)<br /> <br /> <br /> <br /> {{Template:Projects10MHtalk}}<br /> <br /> <br /> <br /> Hi guys, we need to get on top of this, its due for peer assessment in 3 weeks! Im going to do related research. does anyone want to do the drawing? ill also try and get some more references and photos up, as Mark has suggested. If you want a picture, just email the website with the picture on it, thats what ive been doing, they are usually pretty good about it. let me know of any other ideas you guys might have - Jill --[[User:Z3265772|z3265772]] 09:50, 23 August 2010 (UTC)<br /> <br /> <br /> <br /> --[[User:S8600021|Mark Hill]] 04:35, 23 August 2010 (UTC) OK there are a few references here, but you will need more than these few and there should be some related images.<br /> <br /> <br /> <br /> Link for group assessment criteria: [[2010_Lab_1#Group_Assessment_Criteria|group assessment criteria]] - Jill--[[User:Z3265772|z3265772]] 00:50, 25 August 2010 (UTC)<br /> <br /> <br /> <br /> For current associated research:<br /> <br /> <br /> http://onlinelibrary.wiley.com/doi/10.1002/pd.2410/abstract<br /> <br /> http://www.ncbi.nlm.nih.gov/pubmed/11263542<br /> <br /> http://www.ncbi.nlm.nih.gov/pubmed/19683693<br /> <br /> http://www.sciencedirect.com/science?_ob=ArticleURL&amp;_udi=B6T7V-4BWVXPY-F9&amp;_user=10&amp;_coverDate=03%2F31%2F1994&amp;_rdoc=1&amp;_fmt=high&amp;_orig=search&amp;_sort=d&amp;_docanchor=&amp;view=c&amp;_searchStrId=1427646674&amp;_rerunOrigin=google&amp;_acct=C000050221&amp;_version=1&amp;_urlVersion=0&amp;_userid=10&amp;md5=a3c3f2d47ad01c562a3baea8c60a48bc<br /> <br /> http://www.informaworld.com/smpp/content~db=all~content=a913951525<br /> <br /> http://www.escardiocontent.org/periodicals/ejcpr/article/S0002-9378%2807%2900305-5/abstract<br /> <br /> http://humrep.oxfordjournals.org/cgi/content/abstract/3/6/811<br /> <br /> - Jill--[[User:Z3265772|z3265772]] 00:50, 25 August 2010 (UTC)<br /> <br /> Hi guys, i put up the link for Search Pubmed for our topic, did we want to assign ourselves a role to do or just see how the page goes? i thought maybe we could find a page that we like and follow a similar format, that way we know what our page will look like and can follow a layout as we go. -Jill --[[User:Z3265772|z3265772]] 01:12, 9 August 2010 (UTC)<br /> <br /> <br /> also, see this web page http://www.cdc.gov/mmwr/preview/mmwrhtml/00038393.htm Jill --[[User:Z3265772|z3265772]] 11:16, 9 August 2010 (UTC)<br /> <br /> <br /> project outline: <br /> <br /> 1. Intro<br /> <br /> 2. historic background<br /> <br /> 3. current associated research<br /> <br /> 4. simplified description of technique<br /> <br /> http://journals.lww.com/co-obgyn/Abstract/2010/04000/Chorionic_villus_sampling__technique_and_training.11.aspx<br /> <br /> 5. student drawn figure or animation<br /> <br /> 6. reference list<br /> <br /> 7. glossary<br /> <br /> 8. external links<br /> <br /> -Jill --[[User:Z3265772|z3265772]] 03:05, 11 August 2010 (UTC)<br /> <br /> <br /> Can anyone tell me how to paste a picture from an outside source? i cant seem to figure it out. thanks :) <br /> -Jill --[[User:Z3265772|z3265772]] 05:03, 11 August 2010 (UTC)<br /> <br /> dont worry, i figured it out :)<br /> <br /> <br /> i think we should put the references list on this page to begin with to make sure we dont double up <br /> - Jill --[[User:Z3265772|z3265772]] 05:31, 11 August 2010 (UTC)<br /> <br /> Hey guys sorry for the delay in replies. I see you have made a contribution to the topic already :) By the way, where did you find the project outline criteria? Oh and if you don't mind I can do research on the description of technique and current research. Feel free to contribute :) oh and any ideas on how to work on the drawings? --[[User:Z3224500|Jenny Huang]] 15:29, 11 August 2010 (UTC)<br /> <br /> <br /> Hello guys,<br /> <br /> So I found some journal articles that is of interest especially this one: http://apps.who.int/rhl/reviews/langs/CD003252.pdf which is long and has extensive information on the topic..<br /> So I'll be editing my section in word and will be posting some info on technique in the future.<br /> <br /> Btw here are some other articles that are of interest that can be accessed through unsw sirius:<br /> <br /> <br /> <br /> http://linkinghub.elsevier.com/retrieve/pii/S0889854505702916<br /> <br /> http://journals.lww.com/co-obgyn/Abstract/2010/04000/Chorionic_villus_sampling__technique_and_training.11.aspx<br /> <br /> http://journals.lww.com/co-obgyn/Abstract/2005/04000/Chorionic_villus_sampling_and_amniocentesis.16.aspx<br /> <br /> Complications:<br /> <br /> http://journals.lww.com/greenjournal/Abstract/2007/09000/Procedure_Related_Complications_of_Amniocentesis.24.aspx<br /> <br /> http://journals.lww.com/greenjournal/Abstract/2008/10000/Evaluating_the_Rate_and_Risk_Factors_for_Fetal.12.aspx<br /> <br /> I'll be adding more once I find some that are useful..<br /> <br /> <br /> Oh and about the topic headings are we just going to use the ones in the assesment criteria?<br /> <br /> <br /> --[[User:Z3224500|z3224500]] 15:03, 24 August 2010 (UTC)<br /> <br /> <br /> Hey Jenny!! i think its a great idea to use more headings, add as many as you like/can think of, i just cant think of any more. i think the assessment criteria is just the bare minimum we have to do, so please add more! Also, can we add the new discussion posts to the top of the page? so we dont have to scroll to the bottom every time? what do you think? (it says up the top of this page to add newer material at the top, just wondering what you thought). i really like the articles you have found too :) see you tomorrow <br /> - Jill --[[User:Z3265772|z3265772]] 00:29, 25 August 2010 (UTC)</div>

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