P570: Atypical and extra sex chromosomes: A case series of the increasingly abnormal sex chromosome aneuploidies referred to medical genetics

Cell Free DNA studies are seen as a natural replacement to our prior use of quad screening. Especially for T13, T18, and T21 this testing is superior for sensitivity and specificity in the detection aneuploidies. However, the inclusion of sex chromosomes with cfDNA studies have resulted in an influx of cases with sex chromosome aneuploidies for patients who previously wouldn’t have had genetic testing or for cases with very atypical karyotypes.

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Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.102413
Primary Topic
Prenatal Screening and Diagnostics
Type
article
Field-Weighted Citation Impact
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article

P570: Atypical and extra sex chromosomes: A case series of the increasingly abnormal sex chromosome aneuploidies referred to medical genetics

Theodore E. Wilson
Genetics in Medicine Open
Prenatal Screening and Diagnostics
article

P570: Atypical and extra sex chromosomes: A case series of the increasingly abnormal sex chromosome aneuploidies referred to medical genetics

Theodore E. Wilson
article en

Abstract

Cell Free DNA studies are seen as a natural replacement to our prior use of quad screening. Especially for T13, T18, and T21 this testing is superior for sensitivity and specificity in the detection aneuploidies. However, the inclusion of sex chromosomes with cfDNA studies have resulted in an influx of cases with sex chromosome aneuploidies for patients who previously wouldn’t have had genetic testing or for cases with very atypical karyotypes.

Genetics in Medicine OpenVol. 3
Indiana University (US)
Gender equality
Openalex Percentile: Top 93%
Prenatal Screening and Diagnostics
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P570: Atypical and extra sex chromosomes: A case series of the increasingly abnormal sex chromosome aneuploidies referred to medical genetics — Theodore E. Wilson · Genetics in Medicine Open (2025) | TGRS Research Map | TGRS