Genetic screening tests are performed during pregnancy to determine ifcertain birth defects, syndromes, or chromosomal disorders may be present within the unborn fetus. Several tests are offered during pregnancy and are optional. These tests provide information about a woman’s risk of having a baby with certain birth defects, so that making informed decisions and communicating your concerns with your doctor—and family—can occur.
Carrier Testing for Cystic Fibrosis, Tay-Sachs, Sickle Cell, Spinal Muscular Atrophy, and Fragile X
Blood test performed in the office to determine if the mother is a carrier for any of these serious disorders. If the mother is a carrier , the baby’s father is tested. Carriers don’t show signs of disease. Only when both parents are carriers is there a chance of having an affected baby. If both parents are carriers, further testing is required to find out if your baby has the disease.
Cell-Free DNA Testing
This is a non-invasive blood test that can be performed in the office during pregnancy after tenweeks’ gestation to screen for Down Syndrome, trisomy 18, trisomy 13, and sex-chromosome abnormalities.
First Trimester Screening/Nuchal Translucency
This ultrasound and blood test is performed between eleven and thirteen weeks. The test determines high or low risk for Down Syndrome, trisomy 13, and trisomy 18.
AFP-4 (Quad Screen)
This blood-screening test is performed between fifteen and twenty weeks. The test determines if the pregnancy is at high or low risk for Down Syndrome, trisomy 18, and birth defects of the spinal cord and skull.