Genetic testing in pregnancy

Who gets the test?

Genetic testing is available to any woman before or during pregnancy. Sometimes the child's father is also tested. Your doctor may suggest genetic testing if a family history puts your child at an increased risk of hereditary diseases.

The required tests may depend on your heritage. Certain ethnic groups have a higher risk of certain diseases. For example, people of Ashkenazi Jewish or Eastern European ancestry have a higher risk of Tay-Sachs disease and Canavan disease. Black people have a higher risk of sickle cell anemia. White people have a higher risk of cystic fibrosis.

What does the test do

Doctors use different types of genetic tests. Routine tests check your baby's risk of birth defects such as Down syndrome, trisomy 18, trisomy 13, neural tube defects, and others. A carrier test can show if you are a carrier for a genetic disease. These include cystic fibrosis, fragile X syndrome, sickle cell anemia, Tay-Sachs disease, and others.

How the test works

A nurse or phlebotomist will take a sample of your blood or saliva. There is no risk to you or your child.

What you need to know about test results

Genetic testing does not diagnose a disease in your child. They will only tell you if your child is at high risk. Your doctor may suggest additional tests, such as an amniocentesis or a chorionic villus biopsy, to get more information.

Father testing may also help. Some diseases can only be inherited if both parents are carriers of the gene. Your doctor can rule out certain conditions, such as Tay-Sachs disease, cystic fibrosis, and sickle cell anemia, if the father's test is negative.