新生儿听力联合耳聋基因筛查的临床价值分析  

Clinical Value of Neonatal Hearing Combined With Deafness Gene Screening

作　　者：张萍[1] ZHANG Ping(Department of Otolaryngology,Xiaogan Central Hospital,Xiaogan Hubei 432000,China)

机构地区：[1]湖北省孝感市中心医院耳鼻咽喉科,湖北孝感432000

出　　处：《中国继续医学教育》2020年第20期109-111,共3页China Continuing Medical Education

摘　　要：目的探讨新生儿听力联合耳聋基因筛查的临床价值。方法选择2018年1月—2019年2月在本院出生的2 450例新生儿,均使用耳声发射初步筛查听力,使用自动听性脑干反应或双耳畸变产物耳声发射(DPOAE)复筛,复筛仍未通过者实施诊断性听力检查。同时对入组新生儿行耳聋基因筛查。结果 2 450例新生儿听力初筛时未通过比例为3.31%(81/2 450),其中单独右耳未通过者15例(18.52%),单独左耳未通过者19例(23.46%),双耳未通过者47例(58.02%)。经听力学评估显示,听力障碍发生率为0.24%(6/2 450);2 450例新生儿耳聋基因筛查出耳聋基因123例(5.02%),其中GJB2基因共检出82例(3.35%),SLC26A4共检出21例(0.86%),GJB3基因检出16例(0.65%),12Sr RNA基因检出4例(0.16%);耳聋基因筛查异常比例高于听力筛查,差异有统计学意义(P <0.05);2 450例新生儿听力和耳聋基因筛查均通过者2 258例(92.16%)。结论听力和耳聋基因联合筛查具有互补性,可提高听力异常检出率,指导临床早期给予治疗,改善患儿预后。Objective To explore the clinical value of neonatal hearing combined with deafness gene screening.Methods 2450 newborns born in our hospital from January 2018 to February 2019 were screened for hearing by otoacoustic emission(OAE),and screened by automatic auditory brainstem re sponse(ABR)or DPOAE.Those who failed the screening were examined for diagnostic hearing.At the same time,deafness gene screening was performed in the newborns.Results Among the 2450 newborns,the failure rate was 3.31%(81/2450),of which 15(18.52%)failed in the right ear alone,19(23.46%)failed in the left ear alone and 47(58.02%)failed in both ears.According to the audiological evaluation,the incidence of hearing impairment was 0.24%(6/2450);123 cases(5.02%)of 2450 neonatal deafness were screened for deafness genes,82 cases(3.35%)were detected for GJB2 gene,21 cases(0.86%)for SLC26 A4,16 cases(0.65%)for GJB3 gene and 4 cases(0.16%)for 12 SrRNA gene.The abnormal rate of gene screening was higher than that of hearing screening,with statistical significance(P<0.05);2258(92.16%)of 2450 newborns passed the genetic screening for hearing and deafness.Conclusion The combined screening of hearing and deafness genes is complementary,which can improve the detection rate of hearing abnormalities,guide early clinical treatment and improve the prognosis of children.

关 键 词：新生儿 耳聋基因筛查 听力筛查 自动听性脑干反应 双耳畸变产物耳声发射 耳声发射 

分 类 号：R174[医药卫生—妇幼卫生保健]