• Nancy L. Hancock, M.D.

Should I get genetic testing during my pregnancy?


A variety of genetic screening tests are available during pregnancy. Genetic screening tests offered by Nash Ob-Gyn include prenatal genetic screening for Down Syndrome, Trisomy 18, and Open Neural Tube defects and carrier screening for Cystic Fibrosis, Spinal Muscular Atrophy (SMA), and/or Fragile X Syndrome. These tests are available to all pregnant patients.

The genetic screening tests are optional: you choose if you would like to be tested. The decision to have testing is a personal decision and is to be decided by you.

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It can be helpful to think about how you would use the results of prenatal screening tests in your pregnancy care. Remember that a positive screening test tells you only that you are at higher risk of having a baby with Down syndrome or another aneuploidy. A diagnostic test should be done if you want to know a more certain result. Some parents want to know beforehand that their baby will be born with a genetic disorder. This knowledge gives parents time to learn about the disorder and plan for the medical care that the child may need. Some parents may decide to end the pregnancy in certain situations.

Other parents do not want to know this information before the child is born. In this case, you may decide not to have follow-up diagnostic testing if a screening test result is positive. Or you may decide not to have any testing at all. There is no right or wrong answer.

#Obstetrics