ArticleHuman genomics2025
Genetic screening for hearing loss of 38,589 neonates with follow-up in South China.
Article in Human genomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- Pediatric hearing loss in the universal newborn hearing screening era: etiologies, risk indicators, and clinical phenotypes.Frontiers in public health · 2026Review
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Authors and funding
12 authors.
Funding
Abstract
backgroundHearing loss (HL) is a prevalent disease in children, and conventional neonatal hearing screening has a limited effect. The objective of this study was to analyze the frequency of frequent deafness-associated variants [GJB2, GJB3, SLC26A4, and MTRNR1 (12 S rRNA)] in neonates from South China and determine the risk of hereditary HL through combined genetic and hearing screening.
methodsA cohort of 38,589 neonates was enrolled between November 2019 and June 2022 in South China. All participants underwent genetic and hearing screenings. High-risk neonates were followed up, and data were analyzed to evaluate the correlation between genetic results and hearing outcomes.
resultsThe high-risk rate was 1.80% (694/38589), and the carrier rate was 24.20% (9338/38589). The most frequent allele was GJB2 c.109G > A (10.43%, 8049/77178), followed by GJB2 c.235delC (0.77%, 594/77178) and SLC26A4 c.919-2 A > C (0.50%, 385/77178). Of the 694 high-risk neonates, 403 participated in follow-up. The failure or recommended reexamination rate at the first hearing screening (48-72 h) was 50.38% (203/403), and the HL diagnosis rate at three months was 30.48% (42/140).
conclusionsThe carrier rates of deafness-related gene mutations in South China were determined. Additionally, certain high-risk neonates developed HL and benefited from follow-up and intervention. Genetic screening can improve early diagnosis and facilitate identification of late-onset cases, resulting in timely clinical recommendations.
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