Prenatal screening tests have been designed to identify women who are at increased risk of having babies with certain chromosomal abnormalities such as Down syndrome; selected inherited diseases like cystic fibrosis or thalassemia; or physical birth defects like spina bifida.
Tests of proteins in a pregnant woman’s blood and/or ultrasound can be combined in various ways to assess the risk for Down syndrome. Each test has specific benefits, and our genetic counselor will help you decide which test, if any, may be right for your pregnancy. All of these screening tests are non-invasive, with no increased risk for miscarriage.
You may benefit from prenatal testing if:
- You are pregnant and under the age of 35, but would like more accurate screening for Down syndrome.
- You are pregnant and will be 35 years old or older on your due date.
- You are pregnant with an abnormal screening test result
- You have had an ultrasound of your fetus showing a possible birth defect.
- You have already had a child or other close relative with a birth defect or genetic disease.
- You and your partner are carriers of a recessively inherited disease such as Tay-Sachs, sickle cell anemia, cystic fibrosis or thalassemia.
- You are a carrier of an X-linked disease such as Fragile X, hemophilia or muscular dystrophy.
- You have been exposed to medications, X-rays or other agents during your pregnancy that may be harmful to the developing fetus.