Our team of specialists will help you determine which tests are best for you. Ultrasounds may be performed in the first trimester, the second trimester, or beyond depending on your specific situation. Usually in the first trimester, a maternal blood test is combined with an ultrasound to identify if your baby is at risk for chromosome abnormality. A maternal-fetal medicine specialist will review ultrasound results with you.
All patients undergoing diagnostic testing will meet with a genetic counselor to determine which tests are most appropriate for their pregnancies, and discuss the risks and benefits of testing. Tests include:
Amniocentesis — This is the most common procedure, following blood tests, used to test for birth defects, and it is performed after 15 weeks of pregnancy. Amniocentesis looks for certain types of birth defects, such as Down syndrome, a chromosomal abnormality.
Chorionic villus sampling (CVS) — An alternative to amniocentesis, this procedure takes a small sample of cells from the placenta where it is attached to the wall of the uterus. It can be performed earlier in the pregnancy than amniocentesis. CVS can be used to find genetic disorders, such as Tay-Sachs disease or hemophilia. It can also find chromosomal birth defects, such as Down syndrome.