There are several types of tests that are offered to women during pregnancy to screen for physical abnormalities and genetic conditions. While it’s always best to discuss your options with your healthcare provider, learning about the different types of tests available can help you feel more empowered in your healthcare plan.
Sema4 Noninvasive Prenatal Select is a type of blood test called NIPT (noninvasive prenatal testing) that can be performed as early as nine weeks into pregnancy. It analyzes fragments of fetal DNA (called cell-free DNA) found in the mother’s blood using advanced DNA sequencing technology. Noninvasive Prenatal Select can help you learn more about your risk of having a child with a chromosomal abnormality, such as Down syndrome. There are also other available screening tests that your healthcare provider may recommend:
- Carrier screening is a test that analyzes the parents’ DNA to see if they are carriers of any genetic variants (or changes) that could cause inherited diseases in their children. It helps determine the likelihood that a child will inherit certain genetic conditions from his or her parents. Carrier screening cannot determine the risk that a child may be affected by a chromosomal abnormality
- First and second trimester screening uses ultrasound exams and blood tests to determine the risk that the fetus may be affected by Down syndrome, trisomy 18, trisomy 13, and neural tube defects. It may also identify other genetic conditions. If the results of first or second trimester screening are abnormal, your healthcare provider may recommend further testing with NIPT, chorionic villus sampling (CVS), amniocentesis, or ultrasounds to confirm diagnosis
- Diagnostic testing with CVS or amniocentesis uses a small sample of the placenta or amniotic fluid to test the baby’s DNA for chromosomal abnormalities and other genetic conditions. CVS is available at 11 weeks into pregnancy and amniocentesis is available at 15 weeks. While these types of tests offer more definitive answers than noninvasive tests like NIPT, they are also associated with a small risk to the pregnancy. Therefore, some women prefer to start with a noninvasive screening test first. If the screening shows an increased risk of a chromosomal abnormality, diagnostic testing with amniocentesis or CVS is recommended to confirm the results. Diagnostic testing may also be recommended if you have a high-risk pregnancy or if you and/or your partner are carriers of a genetic condition
We encourage you to discuss your options with your healthcare provider to determine which tests may be right for you.