Genetic Landscape and Carrier Screening of Deafness-Associated Genes in a Prenatal Cohort from Fujian, China.
- 1Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian, People's Republic of China.
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.
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BibTeX
@article{tang2026genetic,
title = {{Genetic Landscape and Carrier Screening of Deafness-Associated Genes in a Prenatal Cohort from Fujian, China.}},
author = {Jianping Tang and Yinglin Zeng and Qingying Lin and Shixin Chen and Hailong Huang and Na Lin and Yao Chen},
journal = {International journal of women's health},
year = {2026},
month = oct,
doi = {10.2147/ijwh.s638995},
url = {https://europepmc.org/article/MED/42974139},
note = {CC BY-NC},
}
RIS
TY - JOUR
TI - Genetic Landscape and Carrier Screening of Deafness-Associated Genes in a Prenatal Cohort from Fujian, China.
AU - Jianping Tang
AU - Yinglin Zeng
AU - Qingying Lin
AU - Shixin Chen
AU - Hailong Huang
AU - Na Lin
AU - Yao Chen
PY - 2026
DA - 2026/10/29
JO - International journal of women's health
DO - 10.2147/ijwh.s638995
UR - https://europepmc.org/article/MED/42974139
AB - 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.
SN - 1179-1411
ER -