大港新生儿听力和耳聋基因联合筛查结果分析

摘要

目的:通过分析大港地区新生儿听力和耳聋基因联合筛查结果,探讨听力与耳聋基因联合筛查的意义.方法:对大港2014年1月1日-2016年6月31日出生的7 946名新生儿进行听力和耳聋基因联合筛查.初筛时采用加强型耳声发射仪(DPOAE),同时进行听损伤高危因素调查,耳聋基因筛查为采集出生72h以后新生儿足跟血,进行耳聋常见4个基因20个突变点检测,听筛未过及听损伤高危儿于生后42d(早产儿为矫正胎龄42d)转至天津市妇女儿童保健中心进行DPOAE和快速脑干诱发电位(AABR)联合筛查,复筛未过的患儿于出生3个月、6个月由该中心听力科行听力学评估和医学诊断.结果:7 946例新生儿中,正常新生儿初筛阳性率为4.91%,听损伤高危儿初筛阳性率为29.32%,二者差异有统计学意义(P<0.00);427例有基因突变,阳性检出率5.37%,与听筛阳性率比较差异无统计学意义;16例患儿最终6个月诊断听力损失,阳性率为2.01‰,有2例耳聋易感基因筛查突变,听力损失均为双耳重度-极重度聋.结论:新生儿听力与耳聋基因筛查联合筛查,可以弥补单纯听力筛查的不足,早期检出及预防迟发性和潜在耳聋的发生,加强对复筛儿童、听损伤高危儿、耳聋基因携带患儿定期随访、监测,尽早发现听力障碍患儿,对减少未来耳聋疾病发生有重要意义.%Objective:Through the analysis of the results of combined screening of newborn hearing and deafness genes in Dagang,to discuss the significance of the combined screening of hearing and deafness related genes.Methods:7 946 newborn from January 1st 2014 to June 31st 2016 in Dagang received the hearing and deafness genes screening.Use the distortion product otoacoustic emission (DPOAE) in the first screening,in combination with the survey of high-risk,the screening of deafness genes were collected after 72h of newborn heel blood,to detect 20 mutations in 4 genes of deafness,the babies that the result for refer or with the high-risk factors need to DPOAE and automatedauditory brainstem response(AABR) review in the 42 days after their birth (days after correction of gestational age 42 days),for the refer babies doing hearing diagnostic tests and audiological assessment in the 3 and 6 months.Results:The positive rate of normal newborn was 4.91% and the screening positive rate was 29.32% of the 7 946 newborn,there were significant differences between the two (P<0.00);427 cases had genetic mutation,positive detection rate of 5.37%,compared with the positive rate,there were no significant differences,16 cases with hearing loss in children age of 6 months,the positive rate of hearing loss was 2.01 per thousand,cases of Deafness gene screening was positive,hearing loss were both ears severe and very severe hearing loss.Conclusion:The combined screening of newborn hearing and deafness genes can make up for the lack of simple hearing screening,and effectively prevent the occurrence of delayed and potential deafness,it is important to strengthen the regular follow-up and monitoring of children with high risk of hearing loss,hearing loss gene carrying children,and to find the children with hearing impairment as soon as possible.