Increased Risk For 47,Xxy On Cell-Free Dna Screen: Not Always Klinefelter Syndrome

Key PointsWhat's already known about this topic?Noninvasive cell-free DNA (cfDNA) tests allow prenatal identification of high risk for Klinefelter syndromecfDNA test requires a prenatal or postnatal confirmation to reach a definitive diagnosis What does this study add?In a significant number of cfDNA tests, results reporting increased risk for 47, XXY were not confirmed on diagnostic testingInvasive procedures must always be discussed to exclude chromosomal variations with a more severe phenotype