新生儿耳聋基因筛查与听力筛查结果分析  

Analysis of gene screening for hearing loss in newborn infants

作　　者：唐小珂 王雅莉 Tang Xiaoke;Wang Yali(Zhengzhou Central Hospital Affiliated to Zheng zhou University,Zhengzhou 450000,Henan,China)

机构地区：[1]郑州大学附属郑州中心医院,河南郑州450000

出　　处：《临床心身疾病杂志》2020年第2期122-126,共5页Journal of Clinical Psychosomatic Diseases

基　　金：郑州市科技局科技攻关项目(编号131PPTGG390-4)。

摘　　要：目的探讨新生儿耳聋基因筛查在新生儿耳聋诊断中的应用价值.方法对2013年1月-2015年1月在我院分娩的5000例新生儿均采集脐带血,采用飞行时间质谱技术检测国内常见耳聋基因及对应点位.新生儿出生48 h后行听力筛查.按照筛查结果将新生儿分为随诊组(4891例)、高度预警组(46例)、听力学诊断组(38例)、耳聋组(25例)4组,均按照听力随访频次随访听力至3岁.以3岁时随访的听力诊断结果为金标准,计算听力筛查法、耳聋基因筛查法及二者联合筛查3种方式诊断新生儿耳聋的特异度、灵敏度及准确度.采用spearson相关性分析新生儿听力筛查与耳聋基因筛查结果的相关性,听力筛查与听力诊断结果、基因筛查与听力诊断结果的相关性.结果随访3 a,本组5000例新生儿耳聋基因筛查阳性率为1.42%;随诊组中未诊断出听力障碍,高度预警组中确诊听力障碍3例(6.52%),听力学诊断组确诊听力障碍5例(13.18%),耳聋组确诊听力障碍8例(24.00%);耳聋组听力障碍检出率显著高于高度预警组和听力学诊断组(P<0.05).耳聋基因联合听力筛查诊断新生儿耳聋的灵敏度高于单纯听力学诊断、耳聋基因诊断;而联合诊断法的特异度、准确度低于单一诊断方法.Spearson分析结果显示,听力筛查、基因筛查与耳聋确诊的相关系数分别为0.849、0.813,听力筛查与基因筛查的相关系数为0.738,均呈显著正相关(P<0.05).结论新生儿听力联合耳聋基因筛查能显著提高新生儿听力障碍的检出率,为新生儿后续语言、听力等系统早期干预提供指导,有利于新生儿心身健康成长.Objective To explore the value of genetic screening for neonatal deafness in the diagnosis of neonatal deafness.Methods A total of 5000 newborns delivered in our hospital from January 2013 to January 2015 were included in the study.Umbilical cord blood was collected from all the newborns and the common deafness genes and corresponding sites were detected by time-of-flight mass spectrometry.Hearing screening was performed after birth of 48h.According to the results of screening,the newborns were divided into follow-up group(4891 cases),high warning group(46 cases),audiological diagnosis group(38 cases)and deafness group(25 cases).All four groups of neonates were followed up according to the frequency of hearing follow-up to three years of age.The specificity,sensitivity and accuracy of hearing screening,gene screening and combined screening were calculated and compared according to the golden standard of hearing diagnosis at the age of three.Spearson correlation analysis was used to analyze the correlation between the results of hearing screening and hearing loss gene screening,and the correlation between the results of hearing screening and hearing diagnosis,gene screening and hearing diagnosis.Results After 3 years follow-up,the positive rate of genetic screening for deafness in 5,000 newborns in this group was 1.42%.Hearing impairment was not diagnosed in the follow-up group,3 cases(6.52%)were diagnosed in the high warning group,5 cases(13.18%)were diagnosed in the audiological diagnosis group,and 8 cases(24.00%)were diagnosed in the deafness group.The detection rate of hearing impairment in the deafness group was significantly higher than that in the high warning group and the audiological diagnosis group(P<0.05).The sensitivity of deafness gene combined with hearing screening to diagnose deafness in newborns is higher than that of pure audiology and deafness gene diagnosis.The results of Spearson analysis showed that the correlation coefficients between hearing screening and gene screening and deafness diagno

关 键 词：新生儿听力障碍 耳聋基因筛查 听力筛查 临床价值 

分 类 号：R722[医药卫生—儿科] R764.04[医药卫生—临床医学]