Fetal screening can determine if a pregnancy is at an increased risk. For couples found to be at an increased risk, fetal diagnostic procedures can help to better define the disorder.

Fetal diagnosis is the process of identifying and evaluation the pregnancy at risk for birth defects and genetic disorders. Specific samples for prenatal testing can be obtained through amniocentesis. Laboratory testing of the samples always includes fetal chromosome analysis. These results are generally available within 7-10 days. Alpha-fetoprotein studies to screen for Spina bifida and other birth defects are routinely done on amniotic fluid samples, as well. When indicated by family history, additional biochemical and DNA testing can also be done.

While some couples are at an increased risk for these conditions due to maternal age or family history, all pregnancies have a 3-5% risk for birth defects, mental retardation, or genetic disease.