Cell-Free Fetal DNA for Prenatal Screening of Aneuploidies and Autosomal Trisomies: A Systematic Review.

This study was aimed at comparing the positive predictive value of a high-risk cell-free fetal DNA test result for sex chromosome aneuploidies (45,X0, 47,XXX, 47,XXY, and 47,XYY) and autosomal trisomies (T21, T18, and T13) with confirmatory tests in singleton pregnancies. Additionally, we identify the main reason for discordant and inconclusive results. PubMed, Web of Science, and Scopus were searched from 2017 for primary research articles on cell-free fetal DNA testing of autosomal trisomies and sex chromosome aneuploidies in singleton pregnancies.