1. Prenatal Genetic Testing for Chromosomal Anomalies By: Linda DeFranco

2. Text  Purpose-to educate pregnant women about available genetic testing-including screenings and diagnostic testing  Audience-pregnant women in an obstetrical practice at the time of their initial visit-approximately at 8-9 weeks of pregnancy  Goals-to fully inform a pregnant women of options that are available to her for detected chromosomal abnormalities including Trisomy 13 and 18, Downs Syndrome and ONTD and other fetal chromosome abnormalities

3. Prenatal genetic testing Screening Non-invasive First trimester ultra screen Sequential or Quad Screen NIPT (non- invasive prenatal testing) Diagnostic invasive Amniocentesis CVS (chorionic villi sampling) OVERVIEW OF PRENATAL GENETIC TESTING

4. There are different prenatal tests available to pregnant women: Screening tests vs Diagnostic testing: SCREENING TESTS: First trimester screen (known as an ultra screen) -11 to 13.6 weeks of pregnancy with sonogram Sequential screen-is a blood test that is combined with the first trimester screen results -done at 16 and 21 weeks of pregnancy

5. Benefits of Prenatal Screening First trimester ultra screen and Sequential -non-invasive -no risk of pregnancy loss Limitations: -not all pregnancies with trisomy 13, 18 and Downs syndrome are detected. -a false positive rate of <3% -limited to the amount of chromosome abnormalities detected

6. NIPS Testing NIPS (non-invasive prenatal screening) -as early as 10 weeks gestation -tests fetal DNA in maternal blood -mom has to be 35 years old at delivery (to be covered by insurance) -known as Materniti 21, Verifi, Harmony, Natera Benefits -Detection rate is 99% for Downs Syndrome and Trisomy 18; and 90% for Trisomy 13 -Low false positive rate of <1% for all Limitations -a positive result needs to be followed up with an amnio or CVS -used only for singleton pregnancies

7. Diagnostic testing- Invasive procedures CVS (chorionic villi sampling) -done between 10-12 weeks -2 different methods: transcervical and transabdominal -risk for pregnancy loss=1/300 Amniocentesis (ultrasound guided) -done at 15-18 weeks Risk for pregnancy loss 1/400

8. Benefits of Amniocentesis and CVS: -looks directly at chromosomes -can be done with twins -CVS can be done as early as 10 weeks gestation -99.9% accurate Limitations and Risks of Amniocentesis and CVS: -miscarriage -infection -bleeding -leaking of amniotic fluid -with CVS more cells are required Future of Prenatal Genetic Testing

10. QUESTION What testing method is the best option for a 35 year old pregnant woman with no family history of genetic abnormalities? A.Amniocentesis B. CVS C. Sequential screen D. NIPS

11. References http://minnesota.cbslocal.com/2013/06/09/prenatal-tests-detect- gender-disorders-in-fetusus-early/http://minnesota.cbslocal.com/2013/06/09/prenatal-tests-detect- http://rap.northshorelij.com/contents/,DanaInfo=www.uptodate.com+ first-trimester-combi...retrievedhttp://rap.northshorelij.com/contents/,DanaInfo=www.uptodate.com+ first-trimester-combi...retrieved 3/6/14. http://www.nytimes.com/2012/08/09/health/research/clinical-trial- http://www.nytimes.com/2012/08/09/health/research/clinical-trial- yields-positive-results-for-new-prenatal-test.html?_r=0 https://www.youtube.com/watch?v=-nc9J4X6V4Y North Shore-LI Jewish Medical Center-Division of Medical Genetics (2013), Manhasset, NY. http://www.medscape.com/viewarticle/813882#2.com/viewarticle/813882#2