Genome Sequencing - Revision history

Z8600021 at 00:46, 23 July 2018

2018-07-23T00:46:45Z

← Older revision		Revision as of 11:46, 23 July 2018
Line 15:		Line 15:
	\|-bgcolor="F5FAFF"		\|-bgcolor="F5FAFF"
	\|		\|
	* '''DNA sequencing versus standard prenatal aneuploidy screening'''~~<ref name="PMID24571752"><pubmed>~~24571752~~</pubmed>~~\| ~~[http://www.nejm.org/doi/full/10.1056/NEJMoa1311037 N Engl J Med.]</ref>~~ "In high-risk pregnant women, noninvasive prenatal testing with the use of massively parallel sequencing of maternal plasma cell-free DNA (cfDNA testing) accurately detects fetal autosomal aneuploidy. Its performance in low-risk women is unclear. ...In a general obstetrical population, prenatal testing with the use of cfDNA had significantly lower false positive rates and higher positive predictive values for detection of trisomies 21 and 18 than standard screening. (Funded by Illumina; ClinicalTrials.gov number, NCT01663350.)."		* '''DNA sequencing versus standard prenatal aneuploidy screening'''{{#pmid:24571752\|PMID24571752}} "In high-risk pregnant women, noninvasive prenatal testing with the use of massively parallel sequencing of maternal plasma cell-free DNA (cfDNA testing) accurately detects fetal autosomal aneuploidy. Its performance in low-risk women is unclear. ...In a general obstetrical population, prenatal testing with the use of cfDNA had significantly lower false positive rates and higher positive predictive values for detection of trisomies 21 and 18 than standard screening. (Funded by Illumina; ClinicalTrials.gov number, NCT01663350.)."
	* '''Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors'''~~<ref name="~~PMID23138752~~"><pubmed>23138752</pubmed></ref>~~ "To report the performance of massively parallel sequencing (MPS) based prenatal noninvasive fetal trisomy test based on cell-free DNA sequencing from maternal plasma in a routine clinical setting in China. One hundred ninety cases were classified as positive, including 143 cases of trisomy 21 and 47 cases of trisomy 18. With the karyotyping results and the feedback of fetal outcome data, we observed one false positive case of trisomy 21, one false positive case of trisomy 18 and no false negative cases, indicating 100% sensitivity and 99.96% specificity for the detection of trisomies 21 and 18. Our large-scale multicenter study proved that the MPS-based test is of high sensitivity and specificity in detecting fetal trisomies 21 and 18. The introduction of this screening test into a routine clinical setting could avoid about 98% of invasive prenatal diagnostic procedures."
			* '''Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors'''{{#pmid:23138752\|PMID23138752}} "To report the performance of massively parallel sequencing (MPS) based prenatal noninvasive fetal trisomy test based on cell-free DNA sequencing from maternal plasma in a routine clinical setting in China. One hundred ninety cases were classified as positive, including 143 cases of trisomy 21 and 47 cases of trisomy 18. With the karyotyping results and the feedback of fetal outcome data, we observed one false positive case of trisomy 21, one false positive case of trisomy 18 and no false negative cases, indicating 100% sensitivity and 99.96% specificity for the detection of trisomies 21 and 18. Our large-scale multicenter study proved that the MPS-based test is of high sensitivity and specificity in detecting fetal trisomies 21 and 18. The introduction of this screening test into a routine clinical setting could avoid about 98% of invasive prenatal diagnostic procedures."
	\|}		\|}

	{\| class="wikitable collapsible collapsed"		{\| class="wikitable collapsible collapsed"
	! More recent papers		! More recent papers
	\|-		\|-
	\| [[File:Mark_Hill.jpg\|90px\|left]] {{Most_Recent_Refs}}		\| [[File:Mark_Hill.jpg\|90px\|left]] {{Most_Recent_Refs}}
Line 27:		Line 28:

	<pubmed limit=5>Prenatal Genome Sequencing</pubmed>		<pubmed limit=5>Prenatal Genome Sequencing</pubmed>
			\|}

			{\| class="wikitable collapsible collapsed"
			! Older papers
			\|-
			\|
	\|}		\|}

Line 82:		Line 89:

	(excerpt from: [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&list_uids=7966192&dopt=Abstract IHA and the World Federation of Neurology Research Group on Huntington's Chorea. Guidelines for the molecular genetics predictive test in Huntington's disease.])		(excerpt from: [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&list_uids=7966192&dopt=Abstract IHA and the World Federation of Neurology Research Group on Huntington's Chorea. Guidelines for the molecular genetics predictive test in Huntington's disease.])

			==Genetic Inheritance==

			The figures below show the pattern of inheritance of a range of genetic disorders. In addition to these patterns are the known effects of increased maternal age and the effects of genetic mutations in the embryo and newborn.

			<gallery>
			File:Autosomal_dominant_inheritance.jpg\|Autosomal dominant inheritance
			File:Autosomal recessive inheritance.jpg\|Autosomal recessive inheritance
			File:X-Linked_dominant_(affected_father).jpg\|X-Linked dominant (affected father)
			File:X-Linked_dominant_(affected_mother).jpg\|X-Linked dominant (affected mother)
			File:X-Linked_recessive_(affected_father).jpg\|X-Linked recessive (affected father)
			File:X-Linked recessive (carrier mother).jpg\|X-Linked recessive (carrier mother)
			File:Mitochondrial_inheritance.jpg\|Mitochondrial genome inheritance
			File:Codominant inheritance.jpg\|Codominant inheritance
			</gallery>

			{{GHR Inheritance}}


	==References==		==References==
Line 87:		Line 112:
	<references/>		<references/>
	===Reviews===		===Reviews===

	~~<pubmed></pubmed>~~
	~~<pubmed></pubmed>~~

	===Articles===		===Articles===
	~~<pubmed></pubmed>~~


	===Journals===		===Journals===

Z8600021 at 03:13, 3 March 2014

2014-03-03T03:13:00Z

← Older revision		Revision as of 14:13, 3 March 2014
Line 2:		Line 2:
	{{Educational Warning}}		{{Educational Warning}}
	==Introduction==		==Introduction==
	[[~~Image~~:~~Trisomy_21_newborn~~.jpg\|~~thumb~~\|~~Trisomy 21 newborn~~]]		[[File:Chromosome- trisomy.jpg\|250px\|right]]

	:''This Embryology site is a developmental educational resource, it does not provide specific clinical details, you should always refer to a health professional.''		:''This Embryology site is a developmental educational resource, it does not provide specific clinical details, you should always refer to a health professional.''

	Draft Page.		Draft Page.



	{{Prenatal diagnosis}} \| [[In Vitro Fertilization]]		{{Prenatal diagnosis}} \| [[In Vitro Fertilization]]

Z8600021: Created page with "{{Header}} {{Educational Warning}} ==Introduction== Trisomy 21 newborn :''This Embryology site is a developmental educational resource,..."

2014-03-03T03:12:22Z

Created page with "{{Header}} {{Educational Warning}} ==Introduction== thumb|Trisomy 21 newborn :''This Embryology site is a developmental educational resource,..."

New page

{{Header}}
{{Educational Warning}}
==Introduction==
[[Image:Trisomy_21_newborn.jpg|thumb|Trisomy 21 newborn]]

:''This Embryology site is a developmental educational resource, it does not provide specific clinical details, you should always refer to a health professional.''

Draft Page.

{{Prenatal diagnosis}} | [[In Vitro Fertilization]]
==Some Recent Findings==
{|
|-bgcolor="F5FAFF"
|
* '''DNA sequencing versus standard prenatal aneuploidy screening'''<ref name="PMID24571752"><pubmed>24571752</pubmed>| [http://www.nejm.org/doi/full/10.1056/NEJMoa1311037 N Engl J Med.]</ref> "In high-risk pregnant women, noninvasive prenatal testing with the use of massively parallel sequencing of maternal plasma cell-free DNA (cfDNA testing) accurately detects fetal autosomal aneuploidy. Its performance in low-risk women is unclear. ...In a general obstetrical population, prenatal testing with the use of cfDNA had significantly lower false positive rates and higher positive predictive values for detection of trisomies 21 and 18 than standard screening. (Funded by Illumina; ClinicalTrials.gov number, NCT01663350.)."
* '''Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors'''<ref name="PMID23138752"><pubmed>23138752</pubmed></ref> "To report the performance of massively parallel sequencing (MPS) based prenatal noninvasive fetal trisomy test based on cell-free DNA sequencing from maternal plasma in a routine clinical setting in China. One hundred ninety cases were classified as positive, including 143 cases of trisomy 21 and 47 cases of trisomy 18. With the karyotyping results and the feedback of fetal outcome data, we observed one false positive case of trisomy 21, one false positive case of trisomy 18 and no false negative cases, indicating 100% sensitivity and 99.96% specificity for the detection of trisomies 21 and 18. Our large-scale multicenter study proved that the MPS-based test is of high sensitivity and specificity in detecting fetal trisomies 21 and 18. The introduction of this screening test into a routine clinical setting could avoid about 98% of invasive prenatal diagnostic procedures."
|}

{| class="wikitable collapsible collapsed"
! More recent papers
|-
| [[File:Mark_Hill.jpg|90px|left]] {{Most_Recent_Refs}}

Search term: [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=search&term=Prenatal%20Genome%20Sequencing ''Prenatal% Genome Sequencing'']

<pubmed limit=5>Prenatal Genome Sequencing</pubmed>
|}

==Genetic Testing==
===Trisomy===
[[File:Chromosome-_trisomy.jpg|thumb|Trisomy 21 karyotype cartoon]]
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.

:'''Links:''' [[Genetic risk maternal age]] | [[Trisomy 21]]

===Single Gene Disorders===
* Cystic fibrosis
* beta-thalassaemia
* Spinal muscular atrophy
* Sickle-cell anaemia
* Huntington disease
* Myotonic dystrophy type 1
* Duchenne or Becker muscular dystrophy
* Haemophilia
* Fragile-X syndrome

===Australia===

A recent publication from NHMRC [http://www.nhmrc.gov.au/publications/synopses/e99syn.htm 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.

:'''Links:''' [http://www.nhmrc.gov.au/publications/synopses/e99syn.htm NHMRC - Medical Genetic Testing: information for health professionals]

===USA===

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.

:'''Links:''' [http://www.genetests.org/ GeneTests] | [http://www.nlm.nih.gov/medlineplus/genetictesting.html Medline Plus - Genetic Testing]

==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?

Huntington's 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."

(excerpt from: [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&list_uids=7966192&dopt=Abstract IHA and the World Federation of Neurology Research Group on Huntington's Chorea. Guidelines for the molecular genetics predictive test in Huntington's disease.])

==References==

<references/>
===Reviews===

<pubmed></pubmed>
<pubmed></pubmed>

===Articles===
<pubmed></pubmed>

===Journals===

* [http://www3.interscience.wiley.com/journal/2252/home Journal - Prenatal diagnosis]

===Search PubMed===

'''Search Pubmed:''' [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&cmd=search&term=Preimplantation+Genetic+Screening Preimplantation Genetic Screening] | [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&cmd=search&term=Preimplantation+Genetic+Diagnosis Preimplantation Genetic Diagnosis]

{{Template:Prenatal Diagnosis terms}}

==External Links==
{{External Links}}

* '''Australia NHMRC''' [http://www.nhmrc.gov.au/_files_nhmrc/publications/attachments/e99.pdf Medical Genetic Testing Information for health professionals - April 2010]

{{Glossary}}

{{Footer}}

[[Category:Abnormal Development]] [[Category:Genetic Abnormalities]] [[Category:Human Embryo]]