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.
Authors
- Theodore E. Wilson
Institutions
- Indiana University (US)
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
- 0.00