Identification of maternal Gγ(Aγδβ)0 thalassemia through retrospective reanalysis of prenatal cfDNA sequencing data

Objective Non-invasive prenatal screening (NIPS) is widely used to detect chromosomal abnormalities such as trisomies 21, 13, and 18 and is also effective in screening for copy number variations (CNVs). However, the routine application of NIPS to detect smaller CNVs within the HBB gene, specifically...

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Principais autores:	Xujie Zhu, Liang Hu, Yuanyuan Pei, Jian Ran, Lijuan Wen, Jiatong Zhong, Yanmei Zhu, Kangqiang Zeng, Fengxiang Wei, Weiqiang Liu
Format:	Artigo
Sprog:	Inglês
Udgivet:	Taylor & Francis Group 2025-12-01
Serier:	Annals of Medicine
Fag:	Maternal CNVs HBB gene NIPS Gγ(Aγδβ)0-thalassemia
Online adgang:	https://www.tandfonline.com/doi/10.1080/07853890.2025.2596498
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