Diagnostic Value of Digital Estimates of Trophoblastic Mosaicism in Genome-Wide Cell-Free Fetal DNA Screening
Clin Chem. 2025 Jul 21:hvaf081. doi: 10.1093/clinchem/hvaf081. Online ahead of print. ABSTRACT BACKGROUND: Cell-free fetal DNA (cffDNA) screening exhibits higher sensitivity and lower false-positive rates (FPRs) compared to combined first-trimester screening for common trisomies. However, additional anomalies on other autosomes detected by genome-wide assays cause anxiety and trigger increased rates of amniocentesis. Here, we evaluated … Read more