If you are planning to have a baby, you may be concerned about birth defects or illnesses that your child might inherit. Genetic screening is a way to learn more about this. You can have the screening before or during pregnancy.
All women should be offered genetic screening during pregnancy. You should have a chance to ask questions about the different options and to get more counseling if you would like it. You can choose to decline most types of genetic screening and still receive complete pregnancy care. However, there are some specific reasons that some women decide to have genetic screening including
Learn the medical history of members of your family. Try to get details of any inherited diseases in your family. Ask your parents if there have been any children in their families who were disabled or who had other birth defects.
Be ready to give the following information about yourself:
The first step in genetic screening is simply to ask questions about you and your family’s health. Your healthcare provider or genetic counselor will review your family and personal medical histories. You will be asked about diseases, disorders, and birth defects in your families. Both you and your partner may have blood tests. Tests of the baby may also be done while you are pregnant.
Common tests used to screen for genetic conditions in pregnancy include:
No single test or mix of tests can find all forms of birth defects or genetic problems. Most screening tests give information about the chances of a problem. They do not give a yes or no answer about whether there actually is a problem. Depending on information you give to your provider or because of screening test results, several other tests may be done. These tests are more than screening tests. They can diagnose certain conditions. These tests include:
Your healthcare provider or counselor will discuss the screening results with you. If there is a problem, they will help you to try to understand the problem. They will describe your choices for prevention or treatment.
For support and information about genetic screening, you can contact: