Non-Invasive Prenatal Testing: Is This the Brave New World We Want?

Over the past year, several companies have unveiled non-invasive prenatal tests designed to detect certain genetic conditions by analyzing fragments of fetal DNA contained in a pregnant woman's blood. Unlike the genetic screening currently offered to women early in pregnancy, which is used to calculate the fetus's risk of developing a particular genetic disorder, non-invasive prenatal testing (NIPT) is diagnostic, and can tell an expectant mother with an extremely high level of accuracy whether or not her fetus actually has trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), or trisomy 13 (Patau syndrome). Endorsed for use among "high-risk" women by the National Society of Genetic Counselors (NSGC), NIPT can obviate the need for amniocentesis or chorionic villus sampling (CVS), both of which are invasive and pose a small risk to the expectant mother and/or fetus.

The comprehensive roll out of NIPT would result in testing for trisomies among a considerable number of the approximately 5 million American women who become pregnant each year, not just the much smaller sub-set of women who undergo amniocentesis or CVS. NIPT has the potential...