There are several types of tests that are offered to women during pregnancy to screen for physical abnormalities and genetic conditions.
- 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. There are many different carrier screens available – some screen for just a few diseases, while others test for a few hundred conditions. The number of conditions that are screened for will depend on which carrier screen was selected by a healthcare provider
- 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/or neural tube defects. It may also identify other genetic conditions
- Noninvasive prenatal testing (NIPT) is a blood test that analyzes fetal DNA found in the mother’s blood. It screens for abnormalities in a developing baby’s chromosomes. NIPT can help you learn more about your risk of having a child with a chromosomal condition, such as Down syndrome or trisomy 13
- Diagnostic testing with chorionic villus sampling (CVS) or amniocentesis use a small sample of the placenta or amniotic fluid to test the baby’s DNA for chromosomal conditions and other genetic conditions. These tests may be recommended if you have a high-risk pregnancy, if you and/or your partner are carriers of a genetic condition, or if the results from screening tests indicate that there might be a problem
Sema4 Natalis uses advanced DNA sequencing to analyze your baby’s genes for more than 190 conditions. It screens for a wide range of genetic conditions, including conditions that can’t be detected by standard carrier screening or prenatal tests. For example, Sema4 Natalis tests for conditions caused by mutations that occur only in egg or sperm cells. Called de novo (new) mutations, these types of genetic changes can’t be detected by carrier screening. For this reason, screening with Sema4 Natalis can provide useful information about your child’s health, even if you have had extensive carrier screening or prenatal testing.