Which screening tests are performed during pregnancy?

Screening tests are not designed to diagnose a genetic syndrome, but rather to provide a more accurate risk estimate for certain conditions, such as Down syndrome. There's no test available during pregnancy that will rule out all possible genetic diseases and guarantee a healthy baby. If you have any concerns regarding diseases that run in your family, it may be worthwhile to meet with a genetic counselor to discuss the risks for your baby and appropriate testing options during pregnancy.

Common screening tests include: First trimester screening (typically consisting of blood work and an ultrasound to measure the thickness of the skin at the back of the neck, (called nuchal translucency) which indicates if there's a risk that the fetus has Down syndrome)Maternal serum screening, sometimes called a quadruple check, which is performed in the second trimesterCombined test using components of the first twoScreening for a group of common birth defects, called open neural tube defects, can be performed between 15 and 20 weeks by measuring a chemical in the mother's bloodA comprehensive ultrasound evaluation in the second trimester (typically performed between 18 and 20 weeks) evaluates growth, screens for birth defects and looks for any physical markers suggestive of a chromosomal abnormality.

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