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Background <p>Hearing 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 [<i>GJB2</i>,<i> GJB3</i>, <i>SLC26A4</i>, and <i>MTRNR1 (12&#xa0;S rRNA)</i>] in neonates from South China and determine the risk of hereditary HL through combined genetic and hearing screening.</p> Methods <p>A 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.</p> Results <p>The high-risk rate was 1.80% (694/38589), and the carrier rate was 24.20% (9338/38589). The most frequent allele was <i>GJB2</i> c.109G &gt; A (10.43%, 8049/77178), followed by <i>GJB2</i> c.235delC (0.77%, 594/77178) and <i>SLC26A4</i> c.919–2&#xa0;A &gt; 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&#xa0;h) was 50.38% (203/403), and the HL diagnosis rate at three months was 30.48% (42/140).</p> Conclusions <p>The 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.</p>

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Genetic screening for hearing loss of 38,589 neonates with follow-up in South China

  • 期刊论文

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  • 发表日期：

    2025年12月10日

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  • Xia Gu,
  • Runzhong Huang,
  • Jie Xie,
  • Congcong Shi,
  • Yinchun Zhang,
  • Zao Liang,
  • Lu Wang,
  • Dongfan Xiao,
  • Guilong Yuan,
  • Chuanfeng Li,
  • Jinjin Chen,
  • Hu Hao

摘要

Background

Hearing 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.

Methods

A 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.

Results

The 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).

Conclusions

The 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.