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Article

Single-Molecule Counting for Noninvasive Prenatal Diagnosis of Autosomal Recessive Hearing Loss in at-Risk Families: A Proof-of-Concept Study.

The Journal of molecular diagnostics : JMD - 1 Apr 2026

Wu Lihua, Lin Yunqi, Gao Bo, Zhu Biyin, Dai Pu, Huang Shaopeng

Abstract excerpt

Identifying the molecular causes of hereditary sensorineural hearing loss is essential for effective prevention and control. Current prenatal diagnostic methods are primarily invasive and carry significant risks. While noninvasive prenatal testing for common aneuploidies has become widespread over the past decade, noninvasive prenatal testing for monogenic hereditary disorders remains limited by complex...

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Identifiers

PMID: 41895920
DOI: 10.1016/j.jmoldx.2025.12.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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