Meet our Medical Genetics Team

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NIPT is a safe and highly accurate screening test that evaluates the risk of certain genetic conditions in a developing baby. Using a simple blood sample from the mother, NIPT analyzes small fragments of placental DNA circulating in the maternal bloodstream to screen for chromosomal abnormalities, including Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13). Testing can typically be performed as early as 8 weeks of pregnancy and poses no risk to the baby. 

Although NIPT is highly sensitive, it is a screening test rather than a diagnostic test. Abnormal results may require further evaluation, genetic counseling, and confirmatory diagnostic testing, such as chorionic villus sampling (CVS) or amniocentesis.

This procedure can be done as early as 15 weeks of pregnancy. During the procedure, a maternal-fetal medicine specialist gently places a thin needle through your abdomen into the uterus to collect a small sample of amniotic fluid—the fluid that surrounds and protects your baby. This fluid contains your baby’s genetic information, which allows us to test for certain genetic conditions.

This procedure is typically offered between 11 and 13 weeks of pregnancy. During the procedure, a maternal-fetal medicine specialist places a thin needle through your abdomen to reach the placenta. A small sample of placental tissue is collected and sent for testing. Because the placenta and baby share the same genetic material, this sample can provide early information about certain genetic conditions.

Carrier screening helps determine whether you, your partner, or both of you carry a genetic change (variant) linked to a specific genetic condition. Many people are carriers without knowing it, and being a carrier does not mean you have symptoms or health concerns.

Carrier screening is done using either a blood or saliva sample and can be completed before or during pregnancy. This test does not tell us whether a fetus has a condition—it only identifies whether you or your partner are carriers. If a carrier screening result is positive, additional diagnostic testing can help determine if the baby is affected.