Prenatal Testing Enters New Era

“New prenatal tests for genetic abnormalities such as Down syndrome are reshaping care for expectant mothers, but their rapid rollout has raised fears that poorly understood results could lead to confusion among patients and doctors managing high-risk pregnancies,” according to Christoper Weaver reporting in the Wall Street Journal.

A new market is emerging which “examines traces of fetal DNA in the mother’s bloodstream.” One company conducted over 61,000 tests in 2012 to feed the insatiable quest to learn about an unborn child, with one of the primary goals to prevent children with Down syndrome or other anomalies from being born. There is confusion in the research community as to whether these should be called “tests” or “screenings” because they assess risk rather than provide a definitive result. There is also confusion about results which could “contribute to the abortion of healthy babies,” states Weaver.

The screening is desired because it is simpler than the more conclusive amniocentesis and can be done earlier in pregnancy, at around 10 weeks. Some insurers are covering the screening which could cost as much as $2,700. The FDA, which has been working on proposals to regulate these types of tests, is asking the companies who are marketing the screenings to provide more information.

A new era indeed, and one that is not favorable to babies with anomalies.

Barbara Lyons