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ObjectiveTo define risk cut‐offs with corresponding detection rates (DR) and false‐positive rates (FPR) in screening for trisomy 21 using maternal age and combinations of first‐trimester biomarkers in order to determine which women should undergo contingent maternal blood cell‐free (cf) DNA testing.
MethodsFrom singleton pregnancies undergoing screening for aneuploidies at three UK hospitals between March 2006 and May 2012, we analyzed prospectively collected data on the following biomarkers: fetal nuchal translucency thickness (NT) and ductus venosus pulsatility index for veins (DV‐PIV) at 11 + 0 to 13 + 6 weeks' gestation and serum free β‐human chorionic gonadotropin (β‐hCG), pregnancy‐associated plasma protein‐A (PAPP‐A), placental growth factor (PlGF) and alpha‐fetoprotein (AFP) at 8 + 0 to 13 + 6 weeks. Estimates of risk cut‐offs, DRs and FPRs were derived for combinations of biomarkers and these were used to define the best strategy for contingent cfDNA testing...
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