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

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.