2021
DOI: 10.1101/2021.11.03.21265829
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Non-Invasive Prenatal Testing (NIPT) Results for Participants of the eXtraordinarY Babies Study: Screening, Counseling, Diagnosis, and Discordance

Abstract: Sex chromosome aneuploidies (SCAs), including 47,XXY, 47,XXX, 47,XYY, and supernumerary variants, occur collectively in approximately 1/500 livebirths. Clinical phenotypes are highly variable resulting in previous ascertainment rates have been 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 occurring postnatally during evaluations for neurodevelopmental, medical, or infertility concerns. T… Show more

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“…26 The increased rate of antenatal SCA diagnoses as a result of NIPT in some countries 7 presents an opportunity to establish longitudinal follow-up of a more complete cohort. 27…”
Section: What Is Klinefelter Syndrome and How Common Is It? Epidemiol...mentioning
confidence: 99%
“…26 The increased rate of antenatal SCA diagnoses as a result of NIPT in some countries 7 presents an opportunity to establish longitudinal follow-up of a more complete cohort. 27…”
Section: What Is Klinefelter Syndrome and How Common Is It? Epidemiol...mentioning
confidence: 99%