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Article

A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2017

Han Mingyu, Li Zhifeng, Wang Wenlu, Huang Shasha, Lu Yanping, Gao Zhiying, Wang Longxia, Kang Dongyang, Li Linwei, Liu Yiqian, Xu Mengnan, Cram David S, Dai Pu

Abstract excerpt

PurposeThe aim of this study was to assess the performance of a noninvasive prenatal screening (NIPS) assay for accurate fetal genotyping of pregnancies at genetic risk for autosomal recessive nonsyndromic hearing loss (ARNSHL).MethodsA total of 80 pregnant couples carrying known mutations in either the GJB2 or SLC26A4 genes associated with a risk for ARNSHL were recruited to the study. Fetal amniocyte samples...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28541280
DOI: 10.1038/gim.2017.54

Genes

GJB2

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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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