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

VernacularTitle:湖州市新生儿听力和耳聋基因联合筛查结果分析
Author: Rong XIN ; Chunjian GU ; Zhiwu LOU ; Xueping SHEN ; Qi JIANG
Publication Type:Journal Article
Keywords: Neonatal Screening; Deafness; Genes; Mutation Screening
From: Chinese Archives of Otolaryngology-Head and Neck Surgery 2016;23(5):269-271
CountryChina
Language:Chinese
Abstract: 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.