Historical Perspective

First-trimester nuchal translucency screening for Down syndrome using B-mode ultrasound was first introduced to clinical medicine by Nicolaides and colleagues in the early 1990s. Following their initial report, a subsequent larger study further substantiated its use in clinical medicine. In 2003, the largest study performed in the United States was published in the New England Journal of Medicine. This study involved 8,514 pregnancies and reported a 79 percent detection rate at a 5 percent false positive rate. The clinical problem, however, was how to put into perspective this test with second-trimester maternal serum screening, the standard for detection of Down syndrome in the United States. In November, 2005, the First- and Second-Trimester Evaluation of Risk (FASTER) Trial was published in the New England Journal of Medicine. This was a multicenter study that involved over 38,000 patients. The purpose of the study was to compare first-trimeter nuchal translucency screening with various forms of second-trimester maternal serum screening and provide direct comparative data on currently available screening approaches to Down's syndrome from a large population that were followed prospectively. The results from this study are discussed in this web site in the section on triple-marker screening and QUAD screening.