Increased RISK for 47,XXY on cell-free DNA screen: Not always Klinefelter syndrome

Key Points What's already known about this topic? Noninvasive cell-free DNA (cfDNA) tests allow prenatal identification of high risk for Klinefelter syndrome cfDNA 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 testing Invasive procedures must always be discussed to exclude chromosomal variations with a more severe phenotype

Automated summary

This study highlights the unconfirmed increased risk of 47,XXY in cfDNA tests, suggesting the need for discussion on invasive testing to exclude more severe chromosomal variations.