湖州市新生儿听力和耳聋基因联合筛查结果分析

目的　探讨新生儿听力与耳聋基因联合筛查临床价值。方法　对2014年2月～2015年8月出生的1933例新生儿作为研究对象，进行听力及耳聋基因的联合筛查。结果　1933例新生儿中，听力初筛通过率71.34%（1379/1933），未通过率28.66%（554/1933），听力障碍率4.14‰（8/1933）。基因筛查突变率：GJB2突变率28.97‰ （56/1933），SLC26A4突变率 13.97‰（27/1933），GJB3突变率6.21‰（12/1933），线粒体12 S rRNA 基因突变率1.03‰（2/1933）。1例235delC纯合突变，听力初筛双耳未通过，复筛失访；2例12 S rRNA1555A>G同质突变听力初筛通过。8例听力障碍者耳聋基因筛查均正常。结论　聋病基因同步筛查可以弥补单纯新生儿听力筛查的不足，两者应联合运用，互为补充，发挥最大作用。

Analysis on effects of the neonatal hearing screening combined with deafness genes screening in Huzhou

OBJECTIVETo explore the clinical value of the neonatal hearing combined with deafness gene screening.METHODSFrom February 2014 to August 2015, 1933 newborns were included in the study. We analyzed the effects of combined screening of hearing and deafness gene.RESULTSAmong all the 1933 neonates, 71.34% (1379/1933) passed and 28.66% (554/1933) failed the initial hearing screening.The hearing impairment rate was 4.14‰ (8/1933). Genetic screening mutation rate was counted. GJB2 mutation rate was 28.97‰ (56/1933). SLC26A4 mutation rate was 13.97‰ (27/1933). GJB3 mutation rate was 6.21‰ (12/1933). Mitochondrial 12 S rRNA gene mutation rate was 1.03‰ (2/1933). 1 case of 235 delc homozygous mutation did not pass the initial hearing screening and lost to follow-up rescreening. 2 cases of 12 S rRNA 1555A>G homogeneous mutations passed early hearing screening. 8 cases of auditory handicaps were all normal.CONCLUSIONDeafness gene screening can make up for the deficiencies of the universal newborn hearing screening. Joint use of both of them should complement each other and play the biggest role.