淄博市新生儿听力与耳聋基因联合筛查结果分析

Concurrent hearing and genetic screening among newborns in Zibo

目的分析评估淄博市听力与耳聋基因联合筛查的有效性。方法选取2019年1月至2022年12月在淄博市全部助产机构出生的新生儿为研究对象,听力初筛采用自动听性脑干反应及耳声发射技术,耳聋基因筛查选取GJB2、GJB3、SLC26A4、线粒体12SrRNA 4个基因的15位点,筛查阳性患儿进行筛查基因全长测序或遗传性听力损失常见基因组合检测以进行耳聋基因诊断。结果140225例进行听力筛查的新生儿中,最终诊断出203例(0.14%)不同程度的听力损失,89309例进行耳聋基因筛查的新生儿中有4778例(5.35%)至少携带1个耳聋基因突变,GJB2、GJB3、SLC26A4、线粒体12SrRNA基因的变异检出率分别为2.749%、0.383%、1.925%和0.211%。203例听力障碍患儿中,双耳聋组的耳聋基因变异率高于单耳聋组,差异有统计学意义(P<0.05)。结论听力筛查与耳聋基因联合筛查可避免漏筛药物性耳聋和迟发型耳聋人群,耳聋基因诊断可明确病因,指导再生育。

Objective The study is aimed to appraise the effectiveness of hearing and genetic screening among Zibo neonates.Methods Neonates born in all Zibo midwifery institutions from January 2019 to December 2022,were selected as the study objects.Automated auditory brainstem responses(AABRs)and otoacoustic emissions(OAEs)were used for hearing screening,15 common deafness gene mutations of GJB2,GJB3,SLC26A4,mitochondrial 12SrRNA were selected for genetic screening.The screening positive neonates were recommended to perform full-length gene sequencing or deafness gene sequencing panel for genetic diagnosis.Results Among the 140225 newborns,203(0.14%)neonates had different degrees of hearing impairment.Among the 89309 cases were in progress of genetic screening,4778(5.35%)newborns were detected with genetic variants,The detection rates of GJB2,SLC26A4,GJB3 and mitochondrial 12SrRNA gene variants were 2.749%,0.383%,1.925%and 0.211%,respectively.Among the 203 hearing impaired children,the deafness gene variation rate was higher in the binaural deafness group than in the unilateral deafness group,and the difference was statistically significant(P<0.05).Conclusion The combination of hearing screening and deafness gene screening can avoid missing drug-induced deafness and late-onset deafness,and improve the early screening rate of deafness.