By Amanda Schaffer on December 17, 2013
WHY IT MATTERS
Pregnant women now have an easy and risk-free way to identify genetic flaws in their fetuses. Are we prepared for the consequences?
Pregnant women and their partners can already peer at an unborn child’s chromosomes: with amniocentesis, they can learn about the presence or, more likely, absence of large-scale genetic defects, often gaining peace of mind. But only a small percentage of parents-to-be take the opportunity, because the procedure is invasive and uncomfortable—a large needle is inserted into the amniotic sac—and causes miscarriage in roughly one in 400 cases.
Researchers have long hoped to develop a noninvasive alternative. Ever since scientists discovered, in the 1990s, that pregnant women’s blood contains substantial amounts of fetal DNA, they’ve theorized that they could use this genetic material to test for fetal abnormalities like an extra copy of chromosome 21, which causes Down syndrome.
That technology has now arrived (see “Prenatal DNA Sequencing,” May/June 2013). Several companies have introduced genetic tests that use blood drawn from the mother. These tests can be performed earlier in pregnancy than amniocentesis is usually done, which means that if the results suggest an abnormality, women and their partners have more time to grapple with whether to have an abortion or prepare for a child with special needs. If the results are reassuring, the cloud of anxiety dissipates sooner.