Follow-up Testing, or Diagnostic Testing

If your fetus is found to be at increased risk for a chromosome abnormality or open neural tube defect, please consult with your physician or genetic counselor.

In cases of increased risk identified through parental screening, physicians will often recommend Chorionic Villus Sampling (CVS) or amniocentesis. These tests can provide more conclusive information regarding birth defects and chromosomal abnormalities. However, in a small percentage of cases, both test procedures may cause pregnancy complications, and in rare cases they may cause miscarriage. After consulting with your ObGyn or genetic counselor, you may decide if you should undergo these or other diagnostic test procedures to gain more definitive information.

Chorionic Villus Sampling (CVS)

Performed in the first trimester of pregnancy, typically between 10-12 weeks of gestation, CVS involves the withdrawal of a small amount of chorionic tissue from the placenta. This tissue is then cultured and a chromosome analysis (a karyotype) is performed.

Amniocentesis

Typically performed between 15-20 weeks of your pregnancy, amniocentesis involves a small amount of amniotic fluid being withdrawn from the uterus. The fluid is then tested for chromosome abnormalities.

Both CVS and amniocentesis carry a small risk of complications, including miscarriage.