中国部分地区新生儿耳聋基因筛查现况调查

Current status of newborn deafness gene screeningin parts of China

目的:分析我国多地区2016年及2017年新生儿耳聋基因筛查现况,为进一步推广应用提供参考。方法:将专家论证后的"新生儿耳聋基因筛查调查问卷"发送至我国东中西部41家助产机构,调查2016-01-2017-12期间,各机构开展新生儿耳聋基因筛查的情况、筛查方案、筛查人数及阳性检出情况等。各机构返回问卷,调查人员进行数据核实及实地质量抽检,对返回问卷进行整理,最后对数据完整并符合要求的问卷进行筛查方案及各个基因阳性检出率等的分析。结果:发出41份调查问卷,返回41份,问卷返回率为100%,其中数据完整12份。41家机构中开展新生儿耳聋基因筛查15家,开展率为36.59%(15/41),其中东部开展率最高为72.22%(13/18),各地区间差异有统计学意义。数据完整的12份问卷,筛查方案为:首先是4个基因9个位点及4个基因20个位点分别为4家,占比最高,均为33.33%(4/12),其次为4个基因15个位点3家(25%,3/12)及3个基因5个位点1家(8.34%,1/12)。本研究共纳入340521例新生儿,筛查阳性17036例,阳性率为5.00%。其中,GJB2基因单杂合变异率2.43%(8269/340521),双等位基因变异率0.02%(56/340521);SLC26A4基因单杂合变异率1.99%(6771/340521),双等位基因变异率0.01%(39/340521);GJB3基因单杂合变异率0.33%(1140/340521);线粒体12SrRNA基因变异率0.22%(746/340521);双基因杂合变异率0.004%(15/340521)。结论:2016—2017年,新生儿耳聋基因筛查在我国东部地区开展状况较中西部广泛,提示应进一步加强中西部地区的发展,不断缩小地区间差异。在已开展耳聋基因筛查的机构中,4个基因9个位点及4个基因20个位点的筛查方案应用较广,GJB2基因及SLC26A4基因变异最为常见,可为即将开展新生儿耳聋基因筛查的地区提供参考。

Objective:To analyze the current status of newborn deafness gene screening from 2016 to 2017 in multiple regions of China,and to provide a reference for further promotion and application.Method:The"newborn deafness gene screening questionnaire"was sent to 41 institutions in eastern,central and western China after expert demonstration.The survey content included status of genetic screening,screening methods,the number of screenings,and the status of positive detections from January 1 st,2016 to December 31 th,2017.Each institution returned the questionnaire,the investigator conducted data verification and quality sampling.Finally,we performed analysis of screening methods and the positive detection rate of each gene on questionnaires with complete data.Result:Forty-one questionnaires were sent out and 41 were returned,the questionnaire return rate was 100%,in which 12 questionnaires were complete.Of the 41 institutions,15 carried newborn deafness gene screening,with a rate of 36.59%(15/41).The highest rate was in the east(72.22%,13/18),and the differences among the regions were statistically significant.As for the screening methods,among 12 questionnaires with complete data,9 variants in 4 genes and 20 variants in 4 genes accounted for the highest proportion,both with the rate of 33.33%(4/12),followed by 15 variants in 4 genes(25%,3/12)and 5 variants in 3 genes(8.34%,1/12).A total of 340,521 neonates were included in the study,and 17,036 were positive for screening,with a positive rate of 5.00%.Among them,the single heterozygous mutation rate of GJB2 gene was 2.43%(8269/340,521),the biallele mutation rate was 0.02%(56/340,521),the single heterozygous mutation rate of SLC26 A4gene was 1.99%(6771/340,521),the biallele mutation rate was 0.01%(39/340,521),the single heterozygous mutation rate of GJB3 gene was 0.33%(1140/340,521),the mitochondrial 12 SrRNA gene mutation rate was 0.22%(746/340,521)and the double-gene heterozygous mutation rate was 0.004%(15/340,521).Conclusion:From 2016 to 2017,the newborn deafness gene screening is more extensive in the eastern region of China than in the central and western regions.In institutions that have carried out deafness gene screening,9 variants in 4 genes and 20 variants in 4 genes are widely used;the GJB2 gene and SLC26 A4 gene mutations are the most common.The results could provide references for areas where deafness gene screening is about to be performed.