新生儿听力与聋病易感基因联合筛查对新生儿听力随访的意义  

The Effects of Newborn Hearing Screening Combined with Gene Screening on Follow-ups

作　　者：历建强[1] 纪育斌[1] 李倩[1] 赵飞帆[1] 丁海娜[1] 赵翠[1] 王秋菊[1] 

机构地区：[1]解放军总医院耳鼻咽喉一头颈外科,解放军耳鼻咽喉科研究所,北京100853

出　　处：《听力学及言语疾病杂志》2010年第5期415-418,共4页Journal of Audiology and Speech Pathology

基　　金：国家863项目(2006AA02Z181);国家自然基金重点项目(30830104),国家自然基金面上项目(30672310,30771857&30771203);高等学校全国优秀博士学位论文作者专项资金资助项目(200463);国家973项目(2007CB507400);北京市重大专项课题项目(7070002);国家“十一五”科技支撑计划(2006BAI02B06&2007BAI18B12)联合资助

摘　　要：目的探讨新生儿听力与聋病易感基因联合筛查在新生儿听力随访工作中的意义。方法对2006年11月~2009年2月出生的2 716例新生儿采用筛查型OAE行听力初筛,筛查型OAE＋AABR进行复筛,复筛未通过的新生儿在3月龄时做听力学评估;并在新生儿出生时或出生后3 d内采集新生儿脐带血或足跟血,进行线粒体DNA12SrRNAm1555A〉G点突变、GJB2基因编码区和SLC26A4基因c.919-2A〉G突变位点基因筛查。随访对象的入选标准为：①未在院内进行听力初筛者;②听力初筛未通过且未参加复筛者;③听力复筛未通过者;④出生时存在聋病高危因素者;⑤基因筛查结果异常者,符合上述条件任一条者即为本研究重点随访对象,不能回院检查者进行电话随访。对单纯听力筛查、基因筛查、听力联合基因筛查的随访率进行比较。结果共纳入重点随访对象289例（听力联合基因筛查）,完成随访225人,随访率77.85%（225/289）;失访64人,失访率22.15%（64/289）。未在院内进行听力筛查、听力筛查结果异常及具有高危因素新生儿共247例（单纯听力筛查）,随访186例,随访率75.30%（186/247）,失访61例,失访率24.70%（61/247）,最后确诊5例感音神经性听力下降。基因筛查异常46例,随访43例,随访率93.48%（43/46）,失访3例,失访率6.52%（3/46）。基因筛查的随访率显著高于单纯听力筛查的随访率（P〈0.05）,听力联合基因筛查的随访率（77.85%）也较后者高。结论听力和聋病易感基因联合筛查扩大了随访对象的范围,提高了随访率和新生儿聋病或高危聋儿的检出率,扩大了耳聋的防治与干预范围。Objective To understand the significance of the hearing and genetic screening in the prevention of newborn hearing impairment,we summarize and analyze the follow-up results of combined genetic and hearing screening.Methods We designed a prospective and cross-sectional research model based on 2 716 newborns in our hospital from November 2006 to February 2009.Otoacoustic emission（OAE） was used in the initial hearing screening and automated brainstem response was utilized in rescreening.Audiological evaluations were provided the newborns failed rescreening at 3 months.Cord or heel blood was taken for genetic screening as an analysis of mitochondrial mutations of mtDNA12SrRNA m.1555AG,coding region of GJB2,and c.919-2AG mutation in SLC26A4 gene.The follow-up criteria included those who were absent from the initial screening,failed in the initial screening and not referred for rescreening,abnormalities of genetic screening,and born with high risk factors for hearing impairment.Follow-ups were done through telephone calls to those who could not return to the hospital.Results Among 289 enrolled subjects,225 were followed up at a rate of 77.85%（225/289）.247 subjects were found to either have failed the hearing screening,or to receive no screening at the hospital,or to have high risks at birth.186 of those subjects accepted the follow-up at a rate of 75.30%（186/247）.However,61 subjects could not be traced at a rate of 24.70%（61/247）.In the end,5 subjects were identified as sensorineural hearing impairment,showing a rate of 2.69%（5/186）.In 46 subjects with abnormal genetic screening results,43 subjects accepted the follow-up at a rate of 93.48%（43/46）,and 6.52%（3/46） could not be located.The follow-up rate of the genetic screening was higher than that with the hearing screening,and the statistics analysis showed P value 0.05.Conclusion The study revealed the importance of combined genetic screening and audiological examinations.The follow-up rate and intervened subjects were enlarged by the asso

关 键 词：新生儿听力筛查 耳聋 随访 基因 

分 类 号：R764.04[医药卫生—耳鼻咽喉科]