Dr. Eva Morava-Kozicz, M.D.

1) If your screening test results are positive or worrisome, 2) or you're at high risk of having a baby with Down syndrome, you might consider more testing to confirm the diagnosis, even at the stage when you are 4 months pregnant. Your health care provider can help you weigh the pros and cons of these tests. Diagnostic tests that can identify Down syndrome early in the pregnancy include Chorionic villus sampling (CVS). In CVS, cells are taken from the placenta and used to analyze the fetal chromosomes. This test is typically performed in the first trimester, between 10 and 13 weeks of pregnancy. The risk of pregnancy loss (miscarriage) from a CVS is very low. Diagnostic tests that can identify Down syndrome later in the pregnancy include: Amniocentesis. A sample of the amniotic fluid surrounding the fetus is withdrawn through a needle inserted into the mother's uterus. This sample is then used to analyze the chromosomes of the fetus. Doctors usually perform this test in the second trimester, after 15 weeks of pregnancy. This test also carries a very low risk of miscarriage.

A mild heart murmur doesn’t mean that the baby has a heart disease; it can be an innocent, functional murmur. In general, complex heart disease can definitely show up by prenatal testing, but not all types of defects, unfortunately.

For cancer-related counseling, most genetic departments have certified genetic counselors. They can offer you a video consult and you can send a sample for testing (buccal swab), without personally attending the genetics clinics.

Dr. Eva Morava