Genetic testing is not routinely offered to all pregnant women. Testing may be offered for the following reasons: maternal age 35 years or older, previous child or pregnancy with a birth defect, fetus with a suspected abnormality, abnormal serum screening, or other family history.
Non-invasive prenatal testing (NIPT) is now offered by a maternal lab draw. This is called Fetal Cell Free DNA testing which detects chromosome 21, 18 and 13 abnormalities, along with the X and Y chromosomes. Results take approximately 10 days.
Amniocentesis can also be offered for the above reasons and is offered if the fetal DNA testing is positive. Amniocentesis carries a small risk of infection or miscarriage.
Amniocentesis is a simple medical procedure used to obtain a small sample of amniotic fluid surrounding the fetus. Results for an amniocentesis usually take 2-3 weeks.
Another prenatal test called chorionic villus sampling (CVS) can diagnose most, but not all, of the same defects as amniocentesis. CVS is done earlier in pregnancy than amniocentesis (usually between 10-12 weeks), but appears to have a slightly higher risk of miscarriage and other complications. We do not offer CVS through our office.