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

ABSTRACT:

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% (9338/3858

SUBMITTER: Gu X 

PROVIDER: S-EPMC12801692 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature