|Embryology - 25 May 2017 Expand to Translate|
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|Educational Use Only - Embryology is an educational resource for learning concepts in embryological development, no clinical information is provided and content should not be used for any other purpose.|
- 1 Introduction
- 2 Some Recent Findings
- 3 Amniocentesis
- 4 Chorionic Villus Sampling
- 5 Cordocentesis
- 6 Coelocentesis
- 7 Fetal Fibronectin
- 8 Non-Invasive Prenatal Testing
- 9 Cervical Canal Trophoblasts
- 10 Genetic Testing
- 11 Ethics of Testing
- 12 References
- 13 External Links
- 14 Glossary Links
This current page is a general starting point for the topic of prenatal diagnosis, the links below are to resources that give more specific information about some diagnostic techniques available at different stages of pregnancy. The two major classes of techniques are invasive and non-invasive testing and the results of these tests most commonly show normal development. When abnormal development is identified this can be due to genetic, environmental, unknown causes or a combination of these effects. (More? Abnormal Development)
A trend in developed countries of an increasing maternal age, long associated with increased genetic abnormalities, has emphasised the need for good diagnostic low risk tests that allow informed decisions early in a pregnancy. (More? Genetic) In contrast, in developing countries environmental effects such as infections and nutrition can impact upon embryonic and fetal development (More? Environmental | Nutrition)
Recently with the growth in Assisted Reproductive Technologies (ART) or commonly known as In Vitro Fertilization (IVF), there is a new "form" of prenatal diagnosis that involves genetic testing of the blastocyst before implantation. (More? Assisted Reproductive Technology)
Non-Invasive Prenatal Testing (NIPT) include new techniques that analyzes cell-free fetal DNA circulating in maternal blood or from fetal cells in the cervical canal.
There are other pages that refer to postnatal diagnostic testing. (More? Neonatal Diagnosis)
- This Embryology site is a developmental educational resource, it does not provide specific clinical details, you should always refer to a health professional.
Assisted Reproductive Technology | In Vitro Fertilization | Journal - Prenatal diagnosis
|Chorionic villus sampling||Amniocentesis||Ultrasound|
Some Recent Findings
|More recent papers|
This table shows an automated computer PubMed search using the listed sub-heading term.
References listed on the rest of the content page and the associated discussion page (listed under the publication year sub-headings) do include some editorial selection based upon both relevance and availability.
Ridha Fatnassi, Nédia Marouen, Houcem Ragmoun, Latifa Marzougui, Sabra Hammami [Collodion baby: clinical aspects and role of prenatal diagnosis]. [Le bébé collodion: aspects cliniques et intérêt du diagnostic anténatal.] Pan Afr Med J: 2017, 26;118 PubMed 28533841
O Shen, H Y Sela, H Nagar, R Rabinowitz, E Jacobovich, D Chen, E Granot Prenatal diagnosis of biliary atresia: A case series. Early Hum. Dev.: 2017, 111;16-19 PubMed 28531808
Raquel García-Delgado, Francisco Jiménez, Hipólito Falcón Prenatal Diagnosis of Anomalous Origin of the Right Pulmonary Artery. Rev Esp Cardiol (Engl Ed): 2017; PubMed 28527560
Liliana María Zuluaga, John Camilo Hernández, Carlos Felipe Castaño, Jorge Hernando Donado [Effect of antenatal spiramycin treatment on the frequency of retinochoroiditis due to congenital toxoplasmosis in a Colombian cohort]. Biomedica: 2017, 37;86-91 PubMed 28527270
Melissa Hill, Eugene Oteng-Ntim, Frida Forya, Mary Petrou, Stephen Morris, Lyn S Chitty Preferences for prenatal diagnosis of sickle-cell disorder: A discrete choice experiment comparing potential service users and health-care providers. Health Expect: 2017; PubMed 28504327
Xuan Ni Tan, Rosemary Harrup Follicular lymphoma in pregnancy presenting as multiple aneuploidy on non-invasive prenatal testing. Intern Med J: 2017, 47(5);601-602 PubMed 28503877
L F Johansson, E N de Boer, H A de Weerd, F van Dijk, M G Elferink, G H Schuring-Blom, R F Suijkerbuijk, R J Sinke, G J Te Meerman, R H Sijmons, M A Swertz, B Sikkema-Raddatz Novel Algorithms for Improved Sensitivity in Non-Invasive Prenatal Testing. Sci Rep: 2017, 7(1);1838 PubMed 28500333
Zandra C Deans, Stephanie Allen, Lucy Jenkins, Farrah Khawaja, Ros J Hastings, Kathy Mann, Simon J Patton, Erik A Sistermans, Lyn S Chitty Recommended practice for laboratory reporting of non-invasive prenatal testing (NIPT) of trisomies 13, 18 and 21: a consensus opinion. Prenat. Diagn.: 2017; PubMed 28497584
Chorionic Villus Sampling
|Chorionic Villus Sampling (CVS) test is done in the 10th to 12th week after the first day of the mother's last menstrual period. The test is done by looking at cells taken from the chorionic membrane or placenta. No anaesthetic is required, and a test result is usually available in two to three weeks.
Percutaneous umbilical blood sampling (PUBS, fetal blood sampling, umbilical vein sampling)
This chromosome analysis test is done at in the 18th week or later of high-risk pregnancies. The technique may be used when either alternative tests (amniocentesis, CVS, ultrasound) are either inconclusive or not achievable (severe oligohydramnios).
The risk of a miscarriage related to the test is about 3 per cent (occurring in 3 in 100 pregnancies).
This is a technique of sampling of extracoelomic fluid usually for an early prenatal diagnostic technique.
As a prenatal diagnostic test, a positive fetal fibronectin test result can indicate a higher risk of preterm delivery, but may also has false positive results. The negative result is more reliable as an indicator of reduced risk of preterm birth.
(fFN) is an extracellular matrix glycoprotein produced by fetal cells. Fetal fibronectin appears to act as an adhesive between the interface of the chorion and the decidua (fetal membrane and uterine lining).
Non-Invasive Prenatal Testing
A published survey of clinicians from 28 countries worldwide reported that NIPT is available in their country (n=43) and that they offer NIPT in their current practice (n=38). Eighteen respondents from 14 countries reported that there are plans to introduce NIPT into routine antenatal care in their country. Test prices varied widely, ranging from $US 350 - $US 2900, and several respondents observed that high test prices limited or restricted widespread use of NIPT.
Cervical Canal Trophoblasts
Beginning in 2009, a diagnostic trial indicated that fetal cytotrophoblast cells could be collected by transcervical sampling for genetic analysis. A recent 2016 study has identified fetal genome profiling as early as gestation weeK 5 GA using this technique.
- Links: Trophoblast
There are clinically more and more tests becoming available as we learn more about the genetic basis of some diseases. The most common diagnostic test relates to the current trend in an increasing maternal age, which has long been associated with an increase in genetic abnormalities, the most frequent of these is trisomy 21 or Down syndrome.
A recent publication from NHMRC Medical Genetic Testing: information for health professionals (2010). This paper covers background information on all types of genetic tests, not just those associated with prenatal diagnosis.
Types of genetic tests
- Somatic cell genetic testing involves testing tissue (usually cancer) for non-heritable mutations. This may be for diagnostic purposes, or to assist in selecting treatment for a known cancer.
- Diagnostic testing for heritable mutations involves testing an affected person to identify the underlying mutation(s) responsible for the disease. This typically involves testing one or more genes for a heritable mutation.
- Predictive testing for heritable mutations involves testing an unaffected person for a germline mutation identified in genetic relatives. The risk of disease will vary according to the gene, the mutation and the family history.
- Carrier testing for heritable mutations involves testing for the presence of a mutation that does not place the person at increased risk of developing the disease, but does increase the risk of having an affected child developing the disease.
- Pharmacogenetic testing for a genetic variant that alters the way a drug is metabolised. These variants can involve somatic cells or germline changes. Even if these variants are heritable (that is germline changes), the tests are usually of relevance to genetic relatives only if they are being treated with the same type of medication.
A new site developed by NIH "GeneTests" provides medical genetics information resources available at no cost to all interested persons. It contains educational information, a directory of genetic testing laboratories and links to other databases such as OMIM.
Comparative Genomic Hybridization
This new test under development is based upon microarray-based comparative genomic hybridization (array CGH).
All fetal cells should have complete copies of maternal and paternal genomes. The test compares regions of fetal DNA that deviate from this "pattern" due to either too much or too little DNA, alterations reflect regions of the genome that are either copied or deleted. These genetic changes may therefore cause disease.
Ethics of Testing
Major developmental abnormalities detected early enough can be resolved far more easily than those discovered late in a pregnancy.
What are the ethical questions that are raised by prenatal testing? Future individual rights or parents rights? But what about diseases, like Huntington's, where a diagnostic test can be made but there are no current treatments for the postnatal (95% of cases adult onset) disease?
Guidelines for the molecular genetics predictive test
- Recommendation 2.1 "the test is available only to individuals who have reached the age of majority."
- Recommendation 7.2 "the couple requesting antenatal testing must be clearly informed that if they intend to complete the pregnancy if the fetus is a carrier of the gene defect, there is no valid reason for performing the test."
- Tanya Milachich New advances of preimplantation and prenatal genetic screening and noninvasive testing as a potential predictor of health status of babies. Biomed Res Int: 2014, 2014;306505 PubMed 24783200 | PMC3982254 | Biomed Res Int.
- Chandni V Jain, Leena Kadam, Marie van Dijk, Hamid-Reza Kohan-Ghadr, Brian A Kilburn, Craig Hartman, Vicki Mazzorana, Allerdien Visser, Michael Hertz, Alan D Bolnick, Rani Fritz, D Randall Armant, Sascha Drewlo Fetal genome profiling at 5 weeks of gestation after noninvasive isolation of trophoblast cells from the endocervical canal. Sci Transl Med: 2016, 8(363);363re4 PubMed 27807286
- Peter Benn, Kirsten J Curnow, Steven Chapman, Steven N Michalopoulos, John Hornberger, Matthew Rabinowitz An Economic Analysis of Cell-Free DNA Non-Invasive Prenatal Testing in the US General Pregnancy Population. PLoS ONE: 2015, 10(7);e0132313 PubMed 26158465 | PLoS One.
- Feichtinger M, Stopp T, Göbl C, Feichtinger E, Vaccari E, Mädel U, et al. (2015) Increasing Live Birth Rate by Preimplantation Genetic Screening of Pooled Polar Bodies Using Array Comparative Genomic Hybridization. PLoS ONE 10(5): e0128317.
- Errol R Norwitz, Brynn Levy Noninvasive prenatal testing: the future is now. Rev Obstet Gynecol: 2013, 6(2);48-62 PubMed 24466384
- Jacob O Kitzman, Matthew W Snyder, Mario Ventura, Alexandra P Lewis, Ruolan Qiu, Lavone E Simmons, Hilary S Gammill, Craig E Rubens, Donna A Santillan, Jeffrey C Murray, Holly K Tabor, Michael J Bamshad, Evan E Eichler, Jay Shendure Noninvasive whole-genome sequencing of a human fetus. Sci Transl Med: 2012, 4(137);137ra76 PubMed 22674554
- Xin Guo, Philip Bayliss, Marian Damewood, John Varney, Emily Ma, Brett Vallecillo, Ravinder Dhallan A noninvasive test to determine paternity in pregnancy. N. Engl. J. Med.: 2012, 366(18);1743-5 PubMed 22551147
- Mollie A Minear, Celine Lewis, Subarna Pradhan, Subhashini Chandrasekharan Global perspectives on clinical adoption of NIPT. Prenat. Diagn.: 2015; PubMed 26085345
- [Noninvasive prenatal testing Noninvasive prenatal testing] Volume 43, No.7, July 2014 Pages 432-434.
- Anthony N Imudia, Yoko Suzuki, Brian A Kilburn, Frank D Yelian, Michael P Diamond, Roberto Romero, D Randall Armant Retrieval of trophoblast cells from the cervical canal for prediction of abnormal pregnancy: a pilot study. Hum. Reprod.: 2009, 24(9);2086-92 PubMed 19497946
Prenatal Diagnosis communicates the results of clinical and basic research in prenatal and preimplantation diagnosis in humans, and animal and in vitro models,
Robert Liston, Diane Sawchuck, David Young, Society of Obstetrics and Gynaecologists of Canada, British Columbia Perinatal Health Program Fetal health surveillance: antepartum and intrapartum consensus guideline. J Obstet Gynaecol Can: 2007, 29(9 Suppl 4);S3-56 PubMed 17845745
November 2010 "Prenatal Diagnosis" All (63715) Review (8631) Free Full Text (6349)
Search Pubmed: Prenatal Diagnosis
Prenatal Diagnosis Terms
- ART - Assisted Reproductive Technology a general term to describe all the clinical techniques used to aid fertility.
- blastomere biopsy - An ART preimplantation genetic diagnosis technique carried out at cleavage stage (day 3), excluding poor quality embryos, detects chromosomal abnormalities of both maternal and paternal origin. May not detect cellular mosaicism in the embryo.
- blastocyst biopsy - An ART preimplantation genetic diagnosis technique carried out at blastocyst stage (day 4-5), removes several trophoblast (trophoderm) cells, detects chromosomal abnormalities of both maternal and paternal origin and may detect cellular mosaicism.
- cell-free fetal deoxyribonucleic acid - (cffDNA) refers to fetal DNA circulating and isolated from the plasma portion of maternal blood.
- false negative rate - The proportion of pregnancies that will test negative given that the congenital anomaly is present.
- false positive rate - The proportion of pregnancies that will test positive given that the congenital anomaly is absent.
- negative predictive value - The probability that a congenital anomaly is absent given that the prenatal screening test is negative.
- Non-Invasive Prenatal Testing - (NIPT) could refer to ultrasound or other imaging techniques, but more frequently used to describe analysis of cell-free fetal DNA circulating in maternal blood.
- polar body biopsy - (PB biopsy) An ART preimplantation genetic diagnosis technique that removes either the first or second polar body from the zygote. As these are generated by oocyte meiosis they detects chromosomal abnormalities only on the female genetics.
- positive predictive value - The probability that a congenital anomaly is present given that the prenatal screening test is positive.
- pre-implantation genetic diagnosis - (PGD, pre-implantation genetic screening) a diagnostic procedure for embryos produced through Assisted Reproductive Technology (ART, in vitro fertilisation, IVF) for genetic diseases that would generate developmental abnormalities or serious postnatal diseases.
- prenatal screening sensitivity - (detection rate) The probability of testing positive on a prenatal screening test if the congenital anomaly is present.
- prenatal screening specificity - The probability of testing negative on a prenatal screening test if the congenital anomaly is absent.
- single nucleotide polymorphisms - (SNPs) the variation in a single DNA nucleotide that occurs at a specific position in the genome.
|Other Terms Lists|
|Terms Lists: ART | Birth | Bone | Cardiovascular | Cell Division | Gastrointestinal | Genetic | Hearing | Heart | Immune | Integumentary | Neural | Oocyte | Palate | Placenta | Renal | Spermatozoa | Ultrasound | Vision | Historic | Glossary|
External Links Notice - The dynamic nature of the internet may mean that some of these listed links may no longer function. If the link no longer works search the web with the link text or name. Links to any external commercial sites are provided for information purposes only and should never be considered an endorsement. UNSW Embryology is provided as an educational resource with no clinical information or commercial affiliation.
- Australian and New Zealand - College of Obstetricians and Gynaecologists Intrapartum Fetal Surveillance Clinical Guidelines - Second Edition (June 2011)
- Canada - Society of Obstetricians and Gynaecologists of Canada
- Mayo Clinic [www.mayoclinic.org/tests-procedures/noninvasive-prenatal-testing/basics/definition/prc-20012964 Noninvasive Prenatal Testing]
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Cite this page: Hill, M.A. 2017 Embryology Prenatal Diagnosis. Retrieved May 25, 2017, from https://embryology.med.unsw.edu.au/embryology/index.php/Prenatal_Diagnosis
- © Dr Mark Hill 2017, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G