Q: Who should undergo genetic testing during prenatal care?
Prenatal care has become increasingly important over the last several years. Basic prenatal screening should be recommended by your doctor as soon as possible to avoid common pregnancy complications that are easily preventable. One aspect of prenatal screening is genetic testing for inherited disorders. The American College of Obstetricians and Gynecologists (ACOG) currently recommends that high risk groups for a host of inherited disorders undergo genetic testing.
One of the more prevalent genetic disorders, Tay-Sachs Disease, can be fatal. Those at high risk of having the genetic disorder are Ashkenazi Jews, French Canadians, and those of Cajun descent. Within this high-risk group, the likelihood of having the disorder is approximately 1 in 30. In addition to Tay-Sachs Disease, the most common genetic mutation in Caucasians is Cystic Fibrosis. Though also found in African Americans, Hispanics and Asians, the odds of a Caucasian being affected by Cystic Fibrosis is about 1 in 25.
A third disorder is the possibility of a chromosomal defect. As of 2007, ACOG recommends that all pregnant women, regardless of age, be offered serologic testing, targeted ultrasonography, chorionic villus sampling, or amniocentesis to check for the increased likelihood of giving birth to a child with Down's Syndrome, trisomy, Turners syndrome and other gross genetic abnormalities.