Increased RISK for 47, XXY on cell‐free DNA screen: Not always Klinefelter syndrome. (19th January 2021)

• Record Type: Journal Article
• Authors: Ronzoni, Luisa; Bedeschi, Maria Francesca; Silibello, Gaia; Accurti, Veronica; Di Segni, Marina; Nicotra, Valeria; Vizziello, Paola; Lalatta, Faustina
• Is Part Of: Prenatal diagnosis. Volume 41:Number 10(2021)
• Page Start: 1255
• Page End: 1257
• Publication Date: 2021-01-19
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.5890
• Languages: English
• ISSNs: 0197-3851

Abstract

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