Noninvasive prenatal screening ( NIPS ) results for participants of the eXtraordinarY babies study: Screening, counseling, diagnosis, and discordance

Abstract excerpt

Sex chromosome aneuploidies (SCAs), including 47,XXY, 47,XXX, 47,XYY, and supernumerary variants, occur collectively in approximately one of 500 live births. Clinical phenotypes are highly variable resulting in previous ascertainment rates estimated to be only 10%-25% during a lifetime. Historically, prenatal SCA diagnoses were incidental findings, accounting for ≤10% of cases, with the majority of diagnoses...

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