If The Test Results Show That I Am At Increased Risk, What Are The Other Steps And Tests?

Patients who are at increased risk should speak with their physician or a genetic counselor. They will discuss with you the possibility of having a Chorioic Villus Sampling test (CVS) or an amniocentesis. These are diagnostic tests that can definitively determine if your pregnancy is associated with Down Syndrome or trisomy 18. However, these tests can cause pregnancy complications or in rare cases miscarriage. After consulting with your physician or genetic counselor, you will have to decide if you would like to undergo one of these diagnostic procedures.

What Is CVS?
Chorionic villus sampling (CVS) is a prenatal test that involves taking a tiny tissue sample from outside the sac where the fetus develops. The tissue is tested to diagnose chromosomal abnormalities, genetic birth defects and certain other conditions. The test generally is performed in the first trimester of pregnancy. The test is beneficial to those who want results as early as possible in pregnancy. There is a small risk of miscarriage (between 1 in 100 and 1 in 200).

What Is Amniocentesis?
Amniocentesis is a medical procedure in which the health care provider inserts a thin needle through the mother's abdomen. A small amount of amniotic fluid (the fluid that surrounds the baby) is removed and tested. The procedure is performed between 15 and 18 weeks of pregnancy and is used to test for chromosomal abnormalities, genetic birth defects and certain other conditions. There is a small risk of miscarriage (1 in 200 or less). Some women have cramping, spotting or leaking of amniotic fluid after the procedure.