Prenatal Genetic Testing

Prenatal Genetic Testing  has evolved with testing now available which is less invasive and yet both sensitive (detects abnormal) and specific (not many false positives). Previous recommendations for testing only those at high risk- such as women over age 34- have given way to discussions with every pregnant woman regarding their risks for abnormalities and their desire to know whether or not their fetus is affected.

The gold standard remains with amniocentesis or chorionic villus sampling to obtain cells which can be analyzed for their (fetal) chromosome content.

Much less invasive is the sequential screen which combines an ultrasound measurement of the fetal neck with markers from the baby found in the mother’s blood (drawn twice).  It is fairly accurate in screening for the probability that the pregnancy involves trisomy 21,18 or 13.

The newest screening test is fetal cell-free DNA.  It can be done as early as the seventh week of pregnancy and is more accurate than the sequential screen.

While genetic counselors help patients with many questions generated around the subject of risk for genetic defects, the providers at Women’s Health Care can refer any pregnant woman to the correct resources to have appropriate testing done and all of her genetic questions resolved.  Call for an appointment 503-435-2020.

Paid Advertising Column By Kay E. Case, M.D.
Physician and Surgeon, Women's Health Care