Stepwise sequential screening for fetal aneuploidy

OBJECTIVE: The purpose of this study was to evaluate stepwise sequential screening for fetal aneuploidy. STUDY DESIGN: Women who received first-trimester screening were also offered second-trimester tests with second-trimester risks that were based on both sets of markers. Screen-positive rates, use of second-trimester testing and invasive testing, sensitivity, and changes in risks were evaluated. RESULTS: Of 1528 women who received first-trimester screening, 133 women (8.7%) had an indication for invasive testing that was based on first-trimester results alone; 1173 women (76.8%) received second-trimester tests, which reduced the net number of women with an indication for invasive testing to 105 (6.9%). In unaffected pregnancies, the addition of the second-trimester testing reduced the median Down syndrome risk from 1: 2368 to 1: 10,301. Six of 10 chromosome abnormalities (60%) were identified by first-trimester screening, and 9 of 10 chromosome abnormalities (90%) were identified by sequential screening. CONCLUSION: Sequential screening can be introduced successfully into clinical practice, is effective, and can reduce the number of invasive tests that are performed.