中山市25472例新生儿听力及耳聋基因联合筛查的临床分析

Combined screening of hearing and deafness genes in 25472 newborns in Zhongshan city

目的分析中山地区新生儿耳聋基因携带率,通过对新生儿进行听力筛查与耳聋基因筛查结果比较,为对新生儿进行听力与耳聋基因联合筛查的可行性及必要性提供数据支持和理论依据。方法 25 472名新生儿行常规听力筛查,同时行耳聋基因筛查,主要针对GJB2、GJB3、SLC26A4和MTRNR1(12S rRNA)4个主要的非综合征耳聋基因,共20个热点突变进行检测,分析并比较两组筛查结果。结果 25 472例新生儿中携带耳聋基因突变总数为265例,占1.04%,确诊听力障碍103例,确诊率为0.40%,其中GJB2基因突变率(5.10‰)最高;而通过听力筛查后被诊断为耳聋高危人群57例,占0.23%,确诊为听力障碍38例,确诊率为0.15%,两种筛查方法确诊率比较差异有统计学意义(P<0.05)。461例未通过听力复筛的新生儿中耳聋基因携带率为8.68%,25 011例通过听力筛查的新生儿中耳聋基因携带率为0.90%,两组间比较差异有统计学意义(P<0.05)。听力筛查与基因筛查结果一致性极低(Kappa=-0.003)。结论在传统耳聋筛查基础上采用新生儿耳聋基因筛查可对听力障碍进行有效预警、提前干预,因此对新生儿进行听力与耳聋基因联合筛查具有极大的临床意义。

Objective To analyze the rate of carrying deafness genes in newborns in Zhongshan and compare the results ofhearing screening and those of deafness gene screening in newborns,so as to provide data support and theoretical basis forthe feasibility and necessity of combined screening of hearing and deafness genes in newborns.Methods A total of 25 472 newborns underwent routine hearing screening and screening of deafness genes at the same time,mainly targeting four majornon-syndromic deafness genes,GJB2,GJB3,SLC26 A4 and MTRNR1(12 S rRNA).A total of 20 hot spot mutations weredetected,and the screening results were analyzed and compared between the two groups.Results There were 265 casescarrying deafness gene mutations in 25 472 newborns,accounting for 1.04%.Hearing impairment was confirmed in 103 cases,and the confirmed diagnosis rate was 0.40%.The rate of GJB2 gene mutation was the highest in 130 cases.Therewere 57 cases of high-risk deaf people after hearing screening,accounting for 0.23%and 38 cases of hearing impairment,accounting for 0.15%.There was a statistically significant difference between the two screening methods(P<0.05).Amongthe 461 newborns who did not pass the hearing re-screening,the rate of carrying middle ear deafness gene mutations was8.68%,while that in newborns who passed hearing screening was 0.90%,with a statistically significant difference betweenthe two groups(P<0.05).The consistency of hearing screening and genetic screening results was extremely low(Kappa=-0.003).Conclusion On the basis of traditional deafness screening,neonatal deafness gene screening can be used for effective early-warning and intervention in advance for hearing impairment.Therefore,combined screening of hearing and deafness genesin newborns is of great clinical significance.