First- and midtrimester Down syndrome screening and detection

Abstract

Overall, Down syndrome detection capabilities have improved remarkably over the last 2 decades. Widely practiced first-trimester screening and less extensively elevated midtrimester urine screening promise even greater accuracy than was available a decade ago. Recently, the combination of first- and second-trimester screening has been reported to enhance discrimination of the Down syndrome fetus from normal cases. Although the advances are welcome, they present the significant prospect of multiple competitive algorithms with the risk of confusing patients, practitioners, and health care planners. The need for reasonable consensus has never been more pressing.