Article

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

2021-11-04

Abstract excerpt

<h4>ABSTRACT</h4> 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 majori...

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Literature Corpus work: ec4a3586-3468-50e3-b64b-675080cae3b5
DOI: 10.1101/2021.11.03.21265829

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