Follow-up Testing
If you are at increased risk, consult with your physician or genetic counselor.
With certain increased risk cases, physicians often recommend Chorionic Villus Sampling (CVS) testing or amniocentesis. These tests can provide more conclusive evidence regarding the absence or presence of birth defects resulting from chromosomal abnormalities. However, in a small percentage of cases, both test procedures may cause pregnancy complications, and in rare cases, miscarriage. After consulting with your OBGyn or genetic counselor, you can then decide if you should undergo these or other diagnostic test procedures.
Chorionic Villus Sampling (CVS)
Performed in the first trimester of pregnancy, CVS involves the withdrawal of a small amount of chorionic tissue from the placenta. This tissue is then cultured and a karyotype analysis is performed.
Amniocentesis
Typically performed between the 15-20 weeks of your pregnancy, amniocentesis involves a small amount of amniotic fluid being withdrawn from the uterus, and then the fluid is tested for chromosome abnormalities.
Both CVS and amniocentesis carry a small risk of complications, including miscarriage.