Genetic Screening Tests

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Some parents are interested in screening during pregnancy for genetic or inherited type disorders. A variety of genetic screening tests are available during pregnancy.

 

Genetic screening tests offered by this office include:

  • Carrier screening for Cystic Fibrosis, Spinal Muscular Atrophy (SMA), and/or Fragile X Syndrome

  • Prenatal genetic screening for Down Syndrome, Trisomy 18, and Open Neural Tube defects

 

Carrier screening involves a blood sample and can be performed at any time.

 

Prenatal genetic screening is offered via FIRST trimester screening, second trimester Maternal Serum Screening, and non-invasive prenatal testing by cell-free DNA (NIPT). Second Trimester Maternal Serum screening and NIPT involve taking a sample of the mother’s blood, and these two tests are completed in the office. FIRST trimester screening is completed at UNC/Rex in Raleigh; our office is pleased to schedule an appointment for you if are interested in testing.

 

The genetic screening tests are optional: you choose if you would like to be tested. Many patients ask the question “Should I be tested?” The decision to have testing is a personal decision and is to be decided by you. Please feel free to discuss any questions you have regarding testing with your medical provider.

 

Additional tests may be appropriate based on your personal medical and/or family history. Your medical provider may make recommendations regarding additional genetic testing.

 

Information specific to each of these tests may be reviewed here: