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Article

Haplotype-based approach for noninvasive prenatal diagnosis of congenital adrenal hyperplasia by maternal plasma DNA sequencing.

Gene - 10 Jul 2014

Ma Dingyuan, Ge Huijuan, Li Xuchao, Jiang Tao, Chen Fang, Zhang Yanyan, Hu Ping, Chen Shengpei, Zhang Jingjing, Ji Xiuqing, Xu Xun, Jiang Hui, Chen Minfeng, Wang Wei, Xu Zhengfeng

Abstract excerpt

Prenatal diagnosis of congenital adrenal hyperplasia (CAH) is of clinical significance because in utero treatment is available to prevent virilization of an affected female fetus. However, traditional prenatal diagnosis of CAH relies on genetic testing of fetal genomic DNA obtained using amniocentesis or chorionic villus sampling, which is associated with an increased risk of miscarriage. The aim of this study...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24768736
DOI: 10.1016/j.gene.2014.04.055

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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