What are some diagnostic tests run during pregnancy?

Diagnostic tests differ from screening tests because they can provide a "yes" or "no" answer about certain genetic conditions. Diagnostic tests include: Chorionic villus sampling (also called CVS) in the first trimester (typically performed between 10 and 12 weeks). A small sample of cells, containing the same genetic information as the baby, is removed from the developing placenta and analyzed to detect chromosomal problems.

Amniocentesis is typically performed between 16 and 20 weeks. About 2 tablespoons of amniotic fluid, containing some of the baby's cells, are removed. From these cells, a picture of the baby's chromosomes (also called a karyotype) can be made; this can rule out some genetic syndromes.

Using the fluid from the amniocentesis, screening can also be performed for open neural tube defects.

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