270例新生儿听力及耳聋基因联合筛查与听力诊断结果分析  

Correlation Analysis of Combined Hearing and Deafness Genes Screening in Newborns and Hearing Diagnosis Results

作　　者：周怡[1] 王雪瑶 金欣[1] 李颖[1] 郝津生[1] 郑之芃 陈敏[1] 史吉峰 刘冰[1] 刘海红[1] Zhou Yi;Wang Xueyao;Jin Xin;Li Ying;Hao Jinsheng;Zheng Zhipeng;Chen Min;Shi Jifeng;Liu Bing;Liu Haihong(Beijing Key Laboratory for Pediatric Diseases of Otolaryngology,Head and Neck Surgery,Department of Otolaryngology-Head and Neck Surgery,Beijing Children's Hospital,Capital University of Medical Sciences,National Center for Children's Health,Beijing,100045,China)

机构地区：[1]国家儿童医学中心(北京)首都医科大学附属北京儿童医院耳鼻咽喉头颈外科,儿童耳鼻咽喉头颈外科疾病北京市重点实验室,北京100045

出　　处：《听力学及言语疾病杂志》2023年第6期504-509,共6页Journal of Audiology and Speech Pathology

基　　金：高层次公共卫生技术人才建设项目(2022-3-016);北京市科技新星计划交叉合作课题(20220484211)。

摘　　要：目的分析北京地区新生儿耳聋基因筛查未通过儿童的基因突变情况、听力筛查结果、诊断结果及干预情况,为遗传咨询提供依据。方法研究对象为2019年至2021年因新生儿耳聋基因筛查未通过的儿童共270例(540耳),依据新生儿耳聋基因筛查及新生儿听力筛查结果分为四组,分别为A1组(新生儿耳聋基因筛查无明确致病突变基因型、新生儿听力筛查通过)238例450耳、A2组(新生儿耳聋基因筛查无明确致病突变基因型、新生儿听力筛查未通过)50例74耳、B1组(新生儿耳聋基因筛查有明确致病突变基因型、新生儿听力筛查通过)1例2耳及B2组(新生儿耳聋基因筛查有明确致病突变基因型、新生儿听力筛查未通过)7例14耳。采用秩和检验比较各组儿童ABR阈值、ASSR平均反应阈、DPOAE通过率。结果270例新生儿耳聋基因筛查未通过儿童中,GJB2基因突变占58.89%(159/270)、GJB3基因突变占5.56%(15/270)、SLC26A4基因突变占27.78%(75/270)、线粒体DNA 12SrRNA基因突变占6.30%(17/270)及多基因突变占1.48%(4/270);听力筛查双耳通过213例426耳(占78.89%),单耳未通过26例26耳(占9.63%),双耳未通过31例62耳(占11.48%)。四组儿童听力诊断结果正常率分别为A1组100.00%、A2组70.27%、B1组0、B2组0,共23例(38耳)儿童听力异常。统计学分析显示,A1组较其他三组,ABR阈值、ASSR平均反应阈更趋于正常,DPOAE通过率最高;B2组较其它三组ABR阈值、ASSR平均反应阈最高,DPOAE通过率最低;A2和B1组儿童的ABR阈值、ASSR平均反应阈及DPOAE通过率差异无统计学意义。结论新生儿耳聋基因筛查结合新生儿听力筛查有效提升遗传性聋的检出率,新生儿耳聋基因筛查存在明确致病突变基因型的儿童即使通过了新生儿听力筛查也要引起高度重视,建议及时行诊断性听力检查及必要的影像学、遗传学检查,以实现早期诊断及干预。Objective To investigate the correlation between genetic mutation,hearing screening results and audiological characteristics and intervention condition of children who failed the neonatal deafness screening in Beijing area,and to provide basis for genetic counseling.Methods The study included 270 cases(540 ears)of children who failed the neonatal deafness gene screening in Beijing Children's hospital.The Capital Medicine University from 2019 to 2021.According to the different results of neonatal deafness gene screening and hearing screening,the subjects of this study were divided into four groups.The group A1 included 238 cases(450 ears)who had no clear pathogenic mutation and passed the neonatal hearing screening.The group A2 included 50 cases(74 ears)who had no clear pathogenic mutation and failed the neonatal hearing screening.The group B1 included 1 case(2 ears)who had clear pathogenic mutations and passed the neonatal hearing screening.The group B2 included 7 cases(14 ears)who had clear pathogenic mutations and failed the neonatal hearing screening.The hearing diagnosis results included ABR threshold,ASSR average response threshold and DPOAE pass rate,and were compared among four groups using Mann-Whitney U test.Results Among the 270 children who failed the neonatal deafness gene screening,GJB2 gene mutations accounted for 58.89%(159/270),GJB3 gene mutations accounted for 5.56%(15/270),SLC26A4 gene mutations accounted for 27.78%(75/270),mitochondrial 12SrRNA gene mutations accounted for 6.30%(17/270)and multiple gene mutations accounted for 1.48%(4/270).In the hearing screening,426 ears(78.89%)passed both ears in 213 cases,52 ears(9.63%)failed unilateral ears in 26 cases,and 62 ears(11.48%)failed both ears in 31 cases.The rate of normal hearing after audiological diagnosis was 100.00%in group A1,70.27%in group A2,0 in group B1 and 0 in group B2,and 23 cases(38 ears)were diagnosed with varying degrees of hearing loss.Statistical analysis showed that the ABR threshold and ASSR average response threshold of chi

关 键 词：新生儿 耳聋基因 听力筛查 听力诊断 

分 类 号：R764.04[医药卫生—耳鼻咽喉科]