Prenatal genetic testing is a common method many women seek to learn whether their baby has certain genetic disorders. There are two types of prenatal tests, prenatal screening tests and prenatal diagnostic tests. Screening tests focus on your risk of having a baby with certain disorders, such as, carrier screening and prenatal genetic screenings. Carrier tests can be completed before or during pregnancy. Prenatal genetic screenings (such as an ultrasound or by testing the pregnant woman’s blood) focus on finding unexpected changes to major organs and blood components. Women with a known genetic disorder, such as TSC, can benefit from prenatal diagnostic tests. This type of testing focuses on if the fetus has inherited a certain disorder. Testing is done on fetal cells, placenta, amniocentesis, or chorionic villus sampling.
It is important to understand that a positive screening test does not confirm a disorder – rather, it means your baby has a higher risk of a disorder. Follow up diagnostic testing are required to confirm a screening result. We strongly recommend discussing options with your healthcare team, which at this stage might include a genetic counselor, to discuss the meaning of your results and options moving forward.
Here is more information regarding reproductive decision making and TSC.