17Mar 2025
Enhanced cfDNA Screening Improves Trisomy and CNV Detection Rates

Enhanced cfDNA Screening Improves Trisomy and CNV Detection Rates

The study evaluated cell-free DNA (cfDNA) screening with and without fetal DNA enrichment in 71,986 pregnancies. Enrichment increased fetal fraction levels, improving positive predictive values (PPVs) for trisomies (88.46%-91.11%) and CNVs (53.52%-66.67%) while reducing failure rates (<0.1%). However, SCAs PPVs remained unchanged. Findings highlight the clinical potential of enrichment-based cfDNA screening for more accurate prenatal diagnostics in both general- and high-risk pregnancies.

  • #gynaecology - ivf

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