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Prenatal Genetic Screening & Testing

Genetic testing in pregnancy can help identify babies who may have chromosomal or inherited disorders.

"Genetic Carrier Screening" evaluates you for recessive, or "hidden", genes that can pass a disorder on to your baby if he gets the abnormal gene from both biologic parents. An example is cystic fibrosis, a serious lung condition. The test is performed on the mother's blood either before or during pregnancy, without risk to the fetus. Follow up testing is recommended for the father of the baby if the mother is identified as a carrier of an abnormal gene. If both biologic parents carry the abnormal gene - then additional evaluation (amniocentesis) can be performed to identify whether your baby has the disorder.

NIPT (Noninvasive Prenatal Testing) is testing that can identify pregnancies that are at high risk for down syndrome (trisomy 21) as well as trisomy 18 and trisomy 13. The test is performed on a sample of the mother's blood once after the tenth week of pregnancy. There is no risk to the fetus. If the result is "low risk" then the chances of the baby having one of these conditions is very low. If the result is "high risk" the mother will be offered additional testing (amniocentesis) to determine whether her baby is affected. 

Amniocentesis is a test in which a small amount of amniotic fluid is withdrawn through a needle through the mother's abdomen and sent for testing. The most common reason to have amniocentesis is to diagnose genetic abnormalities of the fetus; either because of a known risk factor, or because a preliminary test returned with a "high risk" result. Unlike the "carrier screening test" and NIPT, amniocentesis does carry a small risk to the pregnancy.

It is important talk to your partner and your physician so you can make a choice about whether to test, and if so, which tests to undergo. Knowing about the inherited disorders in your family and that of the baby's father can help to determine the best choices for genetic testing.

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