Prenatal Genetic Testing

Prenatal Maternal and Fetal Genetic Testing

If you know genetic problems run in the family, we recommend prenatal genetic testing to help you understand any risks. Maternal carrier screening is a type of genetic test that can determine if you carry a gene for certain genetic disorders. When it is done before or during pregnancy, it allows you to find out your chances of passing on the genetic disorder to your child. Once you are pregnant, we offer many types of prenatal diagnostics and testing to identify genetically based issues and other potential fetal chromosome problems:

  • Triple or quad screening is a form of prenatal diagnostic testing to test the fetus for chromosomal abnormalities (e.g., Down syndrome) and neural tube defects (e.g., spina bifida). Done at 16 weeks.
  • Nuchal translucency testing is an ultrasound test to help identify signs of Down syndrome and congenital heart defects. Done at 11-13 weeks.
  • PAPP-A is a genetic screening test often combined with the results of the nuchal translucency test to help identify markers for Down syndrome. Done at 11-13 weeks.
  • Amniocentesis is a sampling of the amniotic fluid that can be used to check for chromosomal abnormalities, fetal infections, Rh incompatibility, and other issues. Done between 15 and 20 weeks.
  • Noninvasive Prenatal Testing (NIPT)/Cell-Free DNA uses blood taken from the mother to detect fetal DNA in the maternal bloodstream and identify whether you’re at increased risk of having a child with a genetic disorder. It is completed after nine weeks gestation. The screening cannot determine for certain whether your baby actually has a chromosomal disorder, only the likelihood of having the condition. This result helps you and your provider decide if additional evaluation is desired.

We encourage you to talk to your provider if you have any questions or concerns about genetics issues and the prenatal genetic testing that can help to identify them.

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