Prenatal genetic testing will be discussed and offered at your first prenatal visit. Genetic testing gives parents information about whether or not their fetus may have certain genetic abnormalities. Some genes may be passed on from parents to children; other genetic abnormalities result from chromosomal abnormalities that occur at conception. If you would like genetic counseling prior to becoming pregnant, please contact our office.

WHO IS AT RISK?

Women who:

• Are older

• Have a family or personal history of birth defects

• Have had a child with a birth defect

• Use certain medicines around the time of conception

GENETIC TESTING OPTIONS

1. First-trimester screening with Nuchal Translucency: This test combines an ultrasound at approximately 12 weeks gestation with blood work. It analyzes a woman's risk for Down syndrome (trisomy 21), as well as trisomy 13 and 18.

2. Cell-free DNA testing: This test can be done after 9 weeks and is used to analyze fetal chromosomal material in the mother’s bloodstream. It involves a blood test from the mother. There are several of these tests available on the market, but we routinely use the MaterniT® 21 PLUS test. It screens for certain chromosomal abnormalities that could affect your baby’s health and development—such as trisomy 21 (Down syndrome) and sex chromosome aneuploidies (SCAs, or abnormal numbers of X or Y chromosomes)—and can also detect your baby’s gender. The cost of these tests will be covered by insurance companies at different rates, so we recommend checking with your insurance company before ordering.

3. Chorionic Villus Sampling or Amniocentesis: These are invasive tests that entail samping the placenta or amniotic fluid with a needle. We are doing these tests less frequently now, as we have access to better non-invasive tests listed above that pose no risk to the fetus.