Choice in Genetic Testing in Your First and Second Trimesters

• Can be performed as early as nine weeks
• Tells you the chances of your baby having a chromosomal abnormality such as trisomy 21 (Down syndrome) and—depending on the type of NIPT you choose—many more conditions
• Screens for fetal sex
• Done via a maternal blood sample from the mother’s arm
• Does not cause miscarriages
• Can require diagnostic testing to confirm a positive result (a “positive result” likely means the baby is affected)

• Can be performed as early as 10 weeks
• Done via a maternal blood sample from the mother’s arm
• Does not cause miscarriages
• Tells you the chance that your baby could have trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and when drawn after 15 weeks, open neural tube defects (such as spina bifida)
• Sometimes show a high risk even when the baby does not have one of these problems

NOTE: The American College of Obstetricians and Gynecologists recommends that women with a “high risk” maternal serum screening result be offered diagnostic testing.¹ Women with a “low risk” result often choose not to have diagnostic testing.

• Can be performed as early as 10 weeks (CVS) or 15 weeks (amniocentesis)
• Tell you with greater than 99% accuracy whether your baby is affected or is not affected with Down syndrome or trisomy 18
• Tell you with greater than 90% accuracy whether your baby is affected with an open neural tube defect
• Can test for other genetic disorders when additional risks are identified in a patient’s history
• Are estimated to cause miscarriage in 1 in 300 to 1 in 500 pregnancies for amniocentesis and up to 1 in 100 with CVS

NOTE: Not even diagnostic testing can show all birth defects or genetic diseases. No test is perfect: even when all the results of diagnostic testing are normal, all pregnancies still have approximately a 3-5% risk of birth defects.