Prenatal screening for Down syndrome: current and future methods

Second-trimester serum screening for Down syndrome has had a relatively long clinical life, beginning in the mid-1980s and continuing to the present day. In the past few years, however, new screening methods that involve testing just a few weeks earlier and the integration of first-trimester and second-trimester markers have been proposed and are being used. These improved methods have begun the transition to better and, hopefully, safer prenatal screening. In the past, as many as 1 in 10 pregnant women learned that they were at increased risk of having a baby with a serious birth defect and had to decide whether to have an invasive diagnostic procedure. Now, screening methods are at the point where as few as 1 in 50 or 1 in 100 pregnant women are found to be at increased risk. The ultimate goal in screening is to make noninvasive testing methods so safe that only those few women who are found to be at the very highest risk will need to face the uncertainty of invasive procedures. In the next few years, that goal will probably be achieved.