保定市新生儿遗传性耳聋基因筛查联合听力筛查对耳聋检出及防控的意义

The significance of genetic screening combined with hearing screening in the detection and prevention of deafness in Baoding

目的探究保定市新生儿遗传性耳聋基因筛查联合听力筛查对耳聋检出及防控的意义。方法选取2018年1月-2019年3月于保定市妇幼保健院出生并接受听力及耳聋基因筛选的新生儿8446例,其中包括新生儿病房1067例,母婴同室新生儿7379例,男4351例,女4095例。出院前或出生48h后按照相关流程对新生儿进行耳聋基因筛查和听力筛查,使用自动听性脑干反应法(AABR)和耳声发射法(OAE)对新生儿进行常规听力筛查,使用荧光定量PCR法对新生儿遗传性耳聋基因进行筛查,并统计筛查结果。结果通过对新生儿遗传性耳聋基因将结果进行分析,共检测出332例易感基因携带者,携带率占全部人数的3.93%(332/8446);其中c.235 delC杂合型突变在总易感基因携带者中的比例为43.07%(143/332),其次c.IVS7-2 A>G的突变频率在新生儿突变频率中占29.82%(99/332)。通过对新生儿各检测位点的突变频率进行比较分析,235delC的突变频率在新生儿突变频率中占有43.07%,其次IVS7-2A>G的突变频率在新生儿突变频率中占有29.82%。对所有新生儿进行听力筛选,初步筛选通过率为92.30%,初步筛选未通过率为7.70%,复筛未通过人数为52人,复筛未通过率为0.62%。结论对新生儿进行遗传性耳聋基因和听力联合筛查,有利于发现迟发性和药物敏感性耳聋,提高新生儿听力障碍的检出率,能够对新生儿进行及时的早期干预。

Objective:To explore the significance of genetic screening combined with hearing screening in detection and prevention of deafness.Methods:From January 2018 to March 2019,8446 newborns born in Baoding maternal and child health care hospital and screened for hearing and deafness genes were selected,including 1067 newborns in the neonatal ward,7379 newborns in the same room,4351 males and 4095 females.Before discharge or 48 hours after birth,the newborns were screened for deafness gene and hearing according to the relevant procedures.The newborns were screened for normal hearing by AABR and OAE.The genes of hereditary deafness were screened by real-time fluorescent quantitative PCR and the results were statistically analyzed.Results:Based on the analysis of genetic deafness gene of newborn,332 cases of susceptible gene carriers were detected,the carrier rate was 3.93%(332/8446)of the total population,among which 43.07%(143/332)of c.235 DELC heterozygous gene carriers followed by 29.82%(99/332)of c.IVS77-2a>G gene carriers.The mutation frequency of 235delc accounted for 43.07%of the neonatal mutation frequency,and the mutation frequency of IVS7-2A>G accounted for 29.82%of the neonatal mutation frequency.Hearing screening was carried out for all newborns,the passing rate of primary screening was 92.30%,the failing rate of primary screening was 7.70%,the number of failed re screening was 52,and the failing rate of re screening was 0.62%.Conclusion:The combination of genetic deafness gene and hearing screening can help to detect delayed and drug sensitive deafness,improve the detection rate of hearing disorders,and provide timely early intervention for newborns.