21386例新生儿听力筛查与聋病易感基因联合筛查结果分析  

Analysis of hearing screening with deafness susceptibility genes screening results in 21 386 newborns

作　　者：唐燕青[1] 文春秀[1] 何升[1] 覃海松 郑海洋[1] 易赏 林丽[1] 陈秋莉[1] 王梁[1] 陈碧艳[1] TANG Yan-qing WEN Chun-xiu HE Sheng QIN Hai-song ZHENG Hai-yang YI Shang LIN Li CHEN Qiu-li WANG Liang CHEN Bi-yan(Department of Genetic Metabolism, Materna and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, 53000)

机构地区：[1]广西壮族自治区妇幼保健院,南宁530003

出　　处：《中国优生与遗传杂志》2017年第10期66-67,102,共3页Chinese Journal of Birth Health & Heredity

基　　金：广西壮族自治区卫生和计划生育委员会自筹经费科研课题(Z2016702)

摘　　要：目的对21 386名新生儿听力筛查与聋病易感基因联合筛查结果分析,为建立新生儿聋病防控预警体系提供有力的依据。方法选择2014年5月至2016年8月在广西壮族自治区妇幼保健院出生及门诊筛查的21 386例新生儿,进行诱发耳声发射和听性脑干反应听力筛查及利用飞行时间质谱技术检测GJB2、GJB3、SLC26A4、12Sr RNA四个基因的20个突变位点聋病易感基因筛查。结果 21 386例新生儿中,听力筛查结果为"未通过"有1907例(8.92%),耳聋基因异常者571例(2.67%)。其中76例新生儿为耳聋基因异常而听力筛查结果为"通过"。结论新生儿听力及基因联合筛查可以及早发现对药物性耳聋、PDS综合征等听力筛查无法检测的迟发性耳聋,对听障患儿的早期发现、早期诊断和早期干预具有重要意义。Objective：In order to establish neonatal early warning system for the control and prevention of deafness,hearing screening and the deafness susceptibility gene screening results of 21 386 newborns were analyzed.Methods：21 386 newborns were chosen from May 2014 to Oct 2016 in clinics of Guangxi maternal and child health care hospital,evoked otoacoustic emission and auditory brainstem response hearing screen was performed and 20 mutant sites for deafness susceptibility of GJB2,GJB3,SLC 26 A4,12 Sr RNA genes were detected using time of flight mass spectrometry. Results：In 21 386 newborns,1907 cases（8.92%）showed ＂failed＂ detected by hearing screening,deafness gene abnormal was found in 571（2.67%）cases in which 76 cases were of ＂pass＂ by hearing screening. Conclusions：Late-onset deafness,such as Drug-induced deafness and PDS syndrome,which cannot be detected by hearing screening,can be detected by neonatal hearing screening combined with deafness gene screening which is significant for early detection,diagnosis and intervention of children with hearing impairment.

关 键 词：新生儿 听力筛查 耳聋基因 

分 类 号：R440[医药卫生—诊断学] R764.43[医药卫生—临床医学]