Work

Genetic Landscape and Carrier Screening of Deafness-Associated Genes in a Prenatal Cohort from Fujian, China

Year: 2026

Type: article

Abstract: Purpose: This study aimed to investigate the carrier frequencies of pathogenic variants in the GJB2 , SLC26A4 , GJB3 , and MT-RNR1 genes among a Chinese pregnant population and their male partners in southern China. Methods: In this retrospective cohort, 1402 pregnant women underwent carrier screening for these four deafness-related genes using targeted next-generation sequencing , and those not willing to participate the study were excluded. Spouses received follow-up testing and counseling were also included. Prenatal diagnosis and postnatal genetic testing with hearing screening were performed to assess newborn outcomes. Results: Among the 1192 pregnant women included in the final analysis, 611 were identified as carriers of pathogenic or likely pathogenic variants in GJB2 , SLC26A4 , GJB3 , or MT-RNR1 . GJB2 showed the highest carrier frequency (23.6%), with c.109G>A and c.235delC being the most frequently detected variants. Additionally, 349 spouses underwent the testing, with similar predominance of GJB2 . Cascade screening identified 41 at-risk couples, including three high-risk couples undergoing prenatal diagnosis. Among 39 newborns, most were heterozygous carriers of deafness-associated variants; three infants homozygous for GJB2 c.109G>A variant exhibited mild hearing loss but maintained normal communication ability. These findings support the utility of carrier screening and genetic counseling in assessing hereditary hearing loss risk. Conclusions: This study demonstrated a substantial carrier frequency of deafness-associated variants among pregnant women and their partners in southern China. Sequential partner screening following identification of maternal carriers enabled the detection of couples at reproductive risk, facilitating genetic counseling and prenatal diagnosis for high-risk pregnancies. Keywords: hearing loss, prenatal screening, GJB2 , SLC26A4 , GJB3 , MT-RNR1

Source: International Journal of Women s Health

DOI: 10.2147/ijwh.s638995