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FETALGENETICTESTING

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HISTORYOFGENETICTESTING

Early 1970s:

Extra Chromosome 21

discovered to be the

cause of Down

Syndrome Amniotic fluid tests

developed

2008:

Genetic InformationNondiscrimination Act

passes

http://www.daviddarling.info/encyclopedia/K/karyotype.htmlPress (2008)

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WHYORWHYNOTPERFORMFETALTESTING?

Possible intervention

Prepare for a child with

special needs

Prepare for changes in

lifestyle

Seek Support Examine options

Outcome of test does

not matter to parents

Potential harm to baby

Religion or morals do

not allow parents to

reconsider pregnancy

Why? Why Not?

American Pregnancy Association [APA] (2006)

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TYPESOFFETALTESTS

1. Fetal Non-Stress Test

2. First Trimester Screen

3. Triple Screen Test

4. Quad Screen5. Maternal Serum Alpha-Fetoprotein Screening

6. Chorionic Villus Sampling

7. Cordocentesis

8. Amniocentesis

APA (2006)

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FIRSTTRIMESTERSCREEN

Not a diagnostic test

Performed in the 11th-

13thweek of pregnancy

85% accuracy with a5% false positive rate

Searches for fluid in

the nuchal notch and

abnormal levels of hCG

and PAPP-A

http://www.aviva.co.uk/health-insurance/home-of-

health/medical-centre/medical-encyclopedia/entry/process-

stages-of-pregancy/

APA (2006)

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TRIPLESCREENTEST

Examines the levels of

three substances:

Alpha-fetoprotein

Human Chorionic

Gonadatropin

Estriol

Performed between the

15thand 20thweek

Most accurate duringthe 16ththrough 18th

week

APA

(2006)

http://www.fetalsono.com/teachfiles/AFP.lasso

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CHORIONICVILLUSSAMPLING

http://www.riversideonline.com/health_reference/Test-Procedure/MY00147.cfm

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AMNIOCENTESIS& CORDOCENTESIS

Amniocentesis Cordocentesis

http://www.hopkinsmedicine.org/healthlibrary/test_procedures/gynecology/amniocentesis_procedure_92,P07762/ http://www.riversideonline.com/health_reference/Test-Procedure/MY00147.cfm

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MOSTNOTABLEDETECTABLEDISORDERS

http://www.childrenshospital.org/health-topics/procedures/genetic-testing

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ETHICALQUESTIONS

http://www.nytimes.com/2007/05/09/us/09down.html?pagewanted=all&_r=0

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WHATSNEXT?

Greater accuracy

Earlier testing periods

Less invasive

procedures

Ability to detect moreand more with each

testhttp://www.whcg.org/Services/Sonograms/tabid/66/Default.as

px

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CITATIONS

American Pregnancy Association. (2006). Chorionic Villus Sampling: CVS | American PregnancyAssociation.American Pregnancy Association. Retrieved April 21, 2014, fromhttp://americanpregnancy.org/prenataltesting/cvs.html

American Pregnancy Association. (2006). First Trimester Screen | American PregnancyAssociation.American Pregnancy Association. Retrieved April 20, 2014, fromhttp://americanpregnancy.org/prenataltesting/firstscreen.html

American Pregnancy Association. (2006). Triple Screen Test | American Pregnancy Association.American Pregnancy Association. Retrieved April 21, 2014, fromhttp://americanpregnancy.org/prenataltesting/tripletest.html

American Pregnancy Association. (2006). Amniocentesis | American Pregnancy Association.American Pregnancy Association. Retrieved April 18, 2014, fromhttp://americanpregnancy.org/prenataltesting/amniocentesis.html

American Pregnancy Association. (2006). Cordocentesis: PUBS | American Pregnancy Association.American Pregnancy Association. Retrieved April 21, 2014, fromhttp://americanpregnancy.org/prenataltesting/cordocentesis.html

Press, N. (2008). Framing the Issue. Genetic Testing and Screening. Retrieved April 21, 2014, fromhttp://www.thehastingscenter.org/Publications/BriefingBook/Detail.aspx?id=2176

National Library of Medicine. (2012). Trisomy 18. - Genetics Home Reference. Retrieved April 20,

2014, from http://ghr.nlm.nih.gov/condition/trisomy-18

http://americanpregnancy.org/prenataltesting/cvs.htmlhttp://americanpregnancy.org/prenataltesting/firstscreen.htmlhttp://americanpregnancy.org/prenataltesting/tripletest.htmlhttp://americanpregnancy.org/prenataltesting/amniocentesis.htmlhttp://americanpregnancy.org/prenataltesting/cordocentesis.htmlhttp://americanpregnancy.org/prenataltesting/cordocentesis.htmlhttp://americanpregnancy.org/prenataltesting/amniocentesis.htmlhttp://americanpregnancy.org/prenataltesting/tripletest.htmlhttp://americanpregnancy.org/prenataltesting/firstscreen.htmlhttp://americanpregnancy.org/prenataltesting/cvs.html