Neonatal hearing and deafness gene combined screening results and follow-up study in Qingyuan region

PAN Xiu-feng; YIN Wei-guo; LI Fu-guang; XIE Xiao-lei; LING Qin-yin

doi:10.13820/j.cnki.gdyx.20251454

Abstract：Objective To analyze neonatal hearing and deafness gene screening results,understand the common gene variants of deafness in Qingyuan,and evaluate the clinical value of combined neonatal hearing and genetic screening in early diagnosis and prevention of hearing impairment.Methods Neonates born at Qingyuan People's Hospital from January 2022 to June 2024 underwent hearing screening using transient evoked otoacoustic emission(TEOAE)and auto-mated auditory brainstem response(AABR).Genetic screening targeted four common deafness-related genes(GJB2,SLC26A4,GJB3,mitochondrial 12SrRNA)covering 23 hotspot loci using a commercial kit.Neonates with normal com-mon gene loci but failed hearing screening had their remaining genomic DNA sent for high-throughput sequencing cover-ing 18 genes and 100 loci.Follow-up and risk stratification were performed based on combined screening results.Results Among 3 000 neonates,the initial hearing pass rate was 88.87％(2 666/3 000),and 334 failed(11.13％).Of 334 retested at 42 days,251(75.15％)passed.Follow-up identified 11 cases with hearing loss:4 unilateral,3 mild bilateral,and 4 moderate-to-severe bilateral.Genetic variants were detected in 790 neonates(26.33％),with GJB2 variants most common(24.67％,740/3 000),followed by SLC26A4(0.97％,29/3 000),and other variants in-cluding mitochondrial 12SrRNA and GJB3 at 0.7％(21/3 000).Conclusion Combined neonatal hearing and deafness gene screening with effective follow-up can identify neonates with congenital hearing loss and those at risk,showing sig-nificant social benefits.The carrier rate of genetic deafness in Qingyuan is relatively high,particularly the GJB2 c.109G＞A variant,which warrants clinical attention.