First trimester Down syndrome screening with dried blood spots using a dual analyte free beta hCG and PAPP-A immunofluorometric assay

Objective To determine the effectiveness of first trimester Down syndrome screening with dried blood spots using a dual analyte free beta human chorionic gonadotrophin (hCG)/pregnancy‐associated plasma protein A (PAPP‐A) immunofluorometric assay. Method An initial retrospective study of 54 Down syndrome cases and 1064 control specimens was performed followed by a series of 146 513 specimens from routine screening. Detection rates at a fixed 5% false‐positive rate were determined separately based on reference data from the retrospective study set and then adjusted based on the routine screening study set. Results On the basis of the retrospective analysis, the estimated detection rate using free beta hCG, PAPP‐A and maternal age varied from 78% at 9 weeks of pregnancy to 70% at 13 weeks of pregnancy. Using a combined protocol, including NT, the detection rate varied from 92 to 90% between 9 and 13 weeks of gestation. Adjusting distribution parameters based on the routine screening dataset reduced the detection rate by at most 1%. Conclusion Analysis of free beta hCG and PAPP‐A using a dual analyte dried blood spot assay is an effective tool in Down syndrome screening, adding an important option for those considering implementation or modification of existing prenatal screening programs. Copyright © 2011 John Wiley & Sons, Ltd.