摘要
目的探讨分析南京市新生儿听力筛查联合耳聋基因筛查结果。方法选取南京市江宁医院、南京鼓楼医院、南京市中医院妇产科2020年1月至2022年12月期间出生的新生儿为研究对象,进行听力联合耳聋基因筛查,其中听力筛查使用耳声发射、自动听性脑干反应;耳聋基因筛查检测GJB2基因、GJB3基因、SLC26A4基因、线粒体12SrRNA。结果本研究共纳入13256名新生儿,男婴6870名,女婴6386名;筛查出存在耳聋基因突变者658例,检出率为4.96%;其中有656例患儿存在4种基因单个位点突变,检出率为4.90%;GJB2基因突变患儿382例,突变率为2.88%;GJB3基因突变患儿34例,突变率为0.26%;SLC264A基因突变患儿212例,突变率为1.60%;线粒体DNA突变患儿22例,突变率为0.17%。双重/双基因杂合突变患儿10例,突变率为0.08%,其中GJB2-235/GJB2-299双重杂合子突变6例,突变率为0.05%;GJB3/SLC26A4双基因杂合突变4例,突变率0.03%。在658例耳聋基因突变者患儿中,确诊听力损失者12例,听力损失检出率为1.82%。在12598名无耳聋基因突变的新生儿中经听力初筛及复筛最终确诊听力损失者12例,听力损失检出率为0.10%;耳聋基因突变患儿的听力损失检出率明显高于无耳聋基因突变新生儿(P<0.01)。早产、外耳畸形新生儿的听力损失检出率明显更高(均P<0.01)。结论南京市新生儿的耳聋基因主要突变类型为GJB2基因、SLC264A基因,听力联合耳聋基因筛查可明显提高新生儿遗传性耳聋的检出率,有利于及早防治。
Objective To explore and analyze the results of hearing screening combined with deafness gene screening among neonates in Nanjing.Methods Neonates delivered at the Department of Obstetrics and Gynecology of Nanjing Jiangning Hospital,Nanjing Drum Tower Hospital,and Nanjing Hospital of Chinese Medicine from January 2020 to December 2022 were selected to conduct hearing screening combined with deafness gene screening.Otoacoustic emission and automatic auditory brainstem response were used for hearing screening.Deafness gene screening was performed to detect GJB2 gene,GJB3 gene,SLC26A4 gene,and mitochondrial 12SrRNA.Results A total of 13256 neonates were included in this study,including 6870 males and 6386 females.There were 658 neonates identified with deafness gene mutation,resulting in a detection rate of 4.96%.Among them,there were 656 cases exhibiting single locus mutation across four genes,with a detection rate of 4.90%.Specifically,there were 382 neonates presenting GJB2 gene mutation with a mutation rate of 2.88%,while the occurrence of GJB3 and SLC264A gene mutations was observed in 34 neonates(mutation rate:0.26%)and 212 neonates(mutation rate:1.60%),respectively.Additionally,mitochondrial DNA mutation was found in 22 neonates at a frequency of 0.17%.Furthermore,double/double-gene heterozygous mutations accounted for only 10 cases(mutation rate:0.08%),including 6 cases of GJB2-235/GJB2-299 double heterozygous mutations(mutation rate:0.05%)and 4 cases of GJB3/SLC26A4 double-gene heterozygous mutations(mutation rate:0.03%).Among 658 neonates with deafness gene mutation,12 cases were diagnosed with hearing loss,and the detection rate was 1.82%.Among 12598 neonates without deafness gene mutation,12 cases were diagnosed with hearing loss after hearing screening and re-screening,and the detection rate was 0.10%.The detection rate of hearing loss in neonates with deafness gene mutation was significantly higher than that in neonates without deafness gene mutation(P<0.01).The detection rate of hearing loss was sign
作者
孔木飞
李舒
胡传凤
张林林
夏丽
黄晓丽
欧阳娟
KONG Mufei;LI Shu;HU Chuanfeng;ZHANG Linlin;XIA Li;HUANG Xiaoli;OUYANG Juan(Nanjing Jiangning Hospital,Nanjing 211100,China;Nanjing Drum Tower Hospital;Nanjing Hospital of Chinese Medicine)
出处
《华南预防医学》
2024年第4期319-322,328,共5页
South China Journal of Preventive Medicine
基金
2020年度江苏省妇幼健康科研项目(F202049)。
关键词
新生儿
听力
耳聋基因
筛查
Neonates
Hearing
Deafness gene
Screening
