Screen‐positive rate in cell free DNA screening for trisomy 21

Abstract

AbstractObjectiveTo assess whether the fetal fraction (FF) has an impact on the screen‐positive rate (SPR) in cell‐free DNA (cfDNA) screening for trisomy 21.MethodsRetrospective analysis based on samples analyzed using the Harmony® Prenatal Test (Roche Inc). Due to the size of the data set, we focused on the SPR, which was stratified according to the maternal age, weight, gestational age, and FF distribution.ResultsThe study cohort consisted of 364,881 patients, including 2614 with a high‐risk‐result. Median maternal and gestational ages were 34.6 years and 12.4 weeks. FF was dependent on maternal age, weight, and gestational age. SPR was 0.72% and it was independent of maternal weight but was dependent on maternal age. There was a positive but weak association between the FF and the SPR until the FF reached 20.0% (OR p = 1.021, p < 0.001, Nagelkerkes r2 = 0.001). This group included 357,800 pregnancies or 98.1% of the study population. In the group of pregnancies with a FF > 20%, the association was stronger (OR 1.099, p < 0.001, Nagelkerkes r2 = 0.042).ConclusionThe SPR in cfDNA screening for trisomy 21 was relatively constant up to a FF of about 20%.