Tell me y: anticipation of sex discrepancies in cell-free DNA testing due to maternal genetic abnormalities: a case report

Tell me y: anticipation of sex discrepancies in cell-free DNA testing due to maternal genetic abnormalities: a case report

Sex discordance between cell-free DNA (cfDNA) testing and ultrasound examination is rare but can cause significant patient discomfort and uncertainty. Here, we present two clinical cases where a closer examination of raw sequencing data allowed us to anticipate possible discrepancies caused by the i...

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Bibliographic Details
Main Authors: Nuria Balaguer, Emilia Mateu-Brull, Jose Antonio Martínez-Conejero, Ana Cervero, Roser Navarro, Jorge Jiménez-Almazán, Miguel Milán
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Genetics
Subjects:
sex discordance
y-chromosome
maternal abnormalities
non-invasive prenatal testing (NIPT)
cell-free (fetal) DNA
case-report
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1502287/full
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