遗传性耳聋基因筛查在新生儿听力筛查中的应用价值探讨

Gene screening of genetic deafness in neonatal hearing screening

目的探讨遗传性耳聋基因筛查在新生儿听力障碍筛查中的使用价值。方法选取2016年3月-2017年11月本院出生的946例新生儿为研究对象,同时对新生儿进行听力初筛及遗传性耳聋基因筛查,分析和对比筛查结果。结果 946例新生儿中,共发现34例遗传性耳聋基因突变的携带病例,占总人数的3. 59%,其中GJB2耳聋基因突变12例、SLC26A4耳聋基因突变14例、GJB3耳聋基因突变2例、线粒体12S rRNA耳聋基因突变6例。5例在听力学评估后确诊为听力损失婴儿,听力初筛及遗传性耳聋基因筛查结果差异无统计学意义(P> 0. 05)。结论遗传性耳聋基因筛查技术是一种简单有效的新生儿听力功能筛查的技术,值得在临床上推广使用。

Objective To investigate the value of genetic screening for genetic deafness in screening newborns with hearing impairment. Methods A total of 946 newborns born in our hospital from March 2016 to November 2017 were selected as the study subjects. The newborn children were conducted for primary hearing screening and genetic deafness screening,and the results were compared and analyzed. Results Of the 946 newborns,34 cases carrying genetic deafness gene mutation were found,accounting for 3. 59%. Among them,12 cases carried GJB2 deafness gene mutation,14 cases carried SLC26 A4 deafness gene mutation,2 cases carried GJB3 deafness gene mutation and 6 cases carried mitochondria 12 S rRNA deafness gene mutation. 5 cases were diagnosed as hearing loss after audiological assessment. There was no statistical significance on the difference between the primary hearing screening results and the genetic screening results（ P 0. 05）. Conclusion Hereditary deafness gene screening is a simple and effective screening method for neonatal hearing function,which is worth of promotion in clinic.