摘要
目的建立新生儿听力筛查队列并进行前瞻性随访,以评价南通市新生儿遗传性耳聋基因筛查项目的效果。方法在传统新生儿听力筛查基础上,于2016年1月至2021年6月对南通市6家医院出生的新生儿进行4种常见耳聋基因15个热点突变位点的筛查及队列随访研究。结果共纳入40403例新生儿,4种常见耳聋基因携带率为39.5‰,筛查和随访共发现168例听力损失患儿,其中56.5%(95例)为重/极重度。与传统听力筛查相比,联合筛查的听力损失检出率显著提高(3.0‰vs.3.9‰,P<0.001)。4例听力正常的致病性突变基因携带者,在2岁内均会发展为迟发性听力损失。随访结束时,多基因杂合突变携带者中,6例为先天性听力损失,5例为迟发性听力损失。与其他突变携带人群相比,多基因杂合突变携带者的发病率较高(2.1%vs.68.8%,P<0.001)。此外,联合筛查发现525例SLC26A4突变携带者和118例MT-RNR1突变携带者并进行咨询干预,随访期间未发现听力损失患儿。结论耳聋基因筛查提高了出生听力损失的检出率。建议出生听力正常的致病性突变基因携带人群在2岁前每3~6个月进行一次听力随访,对多基因杂合突变携带者进行扩展性耳聋基因筛查并加强听力监测,以早期发现迟发性、渐进性听力损失。
Objective To establish a hereditary deafness genetic screening cohort and conduct prospective follow-up to evaluate the effectiveness of the Nantong newborn genetic deafness screening program.Methods A study based on traditional screening of newborn hearing was conducted from January 2016 to June 2021.Newborns in six hospitals in Nantong were screened for 15 hotspot mutation loci in four common deafness genes.Cohort follow-up was conducted.Results A total of 40403 newborns were included,with a carrier rate of 39.5 per 1000 for the four common deafness genes.In total,168 children with hearing loss(HL)were identified at screening and follow-up,of which 56.5%(95 cases)had severe or very severe HL.The detection rate of HL was significantly higher with combined screening than with traditional screening(3.0‰vs.3.9‰,P<0.001).All four carriers of pathogenic mutations with normal hearing developed late-onset HL within 2 years of age.At the end of follow-up,six of the polygenic heterozygous mutation carriers had congenital HL and five had late-onset HL.Carriers of polygenic heterozygous mutations were more common as compared to other carrier mutation populations(2.1%vs.68.8%,P<0.001).In addition,525 carriers of the SLC26A4 mutation and 118 carriers of the MT-RNR1 mutation were identified and their parents were counselled during the combined screening,and no children with HL was identified during the follow-up period.Conclusion Genetic screening for deafness improves the detection of HL at birth.It is recommended that carriers of pathogenic mutations with normal hearing at birth be followed up every 3 to 6 months until the age of 2 years.Carriers of polygenic heterozygous mutations should undergo extended screening for deafness genes and have their hearing monitored more intensively for early detection of late-onset or progressive HL.
作者
李牧庭
朱庆文
庄勋
蒋银华
李春虎
范春琴
钱敏
秦刚
LI Muting;ZHU Qingwen;ZHUANGXun;JIANG Yinhua;LI Chunhu;FAN Chunqin;QIAN Min;QIN Gang(Department of Epidemiology and Biostatistics,School of Public Health,Nantong University,Nantong 226019,P.R.China;Clinical Medicine Research Center,Nantong Maternal and Child's Health Hospital,Nantong 226018,P.R.China;Education and Research Department,Nantong First People's Hospital,Nantong 226001,P.R.China;Medical Administration Department,Nantong Sixth People's Hospital,Nantong 226011,P.R.China)
出处
《中国循证医学杂志》
CSCD
北大核心
2022年第3期261-267,共7页
Chinese Journal of Evidence-based Medicine
基金
江苏省科技厅重点病种规范化诊疗项目(编号:BE2015655)
江苏省卫生健康委员会妇幼健康科研项目(编号:F201673)。
关键词
新生儿
听力筛查
基因筛查
联合筛查
队列研究
Newborn
Hearing screening
Genetic screening
Combined screening
Cohort study
