The predictive value of prenatal cell-free DNA testing for rare autosomal trisomies: a systematic review and meta-analysis.

Acreman ML, Bussolaro S, Raymond YC, Fantasia I, Rolnik DL, Da Silva Costa F. Am J Obstet Gynecol. 2023;228(3):292-305.e6. doi:10.1016/j.ajog.2022.08.034.

Tags: Review / Meta-Analysis, 2022, International, RAAs

  • Systematic review and meta-analysis to determine the PPV of cfDNA screening for RATs. 31 studies, representing 1703 women were included.
  • Pooled PPV for RATs was 11.46%. Statistical heterogeneity was high. Insufficient data to provide accurate ascertainment of sensitivity and specificity because Confirmatory testing was mostly only offered to women with high-risk results; therefore, there was insufficient data to determine sensitivity and specificity.