基于儿科紧密型医联体构建区域新生儿聋病医防融合管理体系的理论与实践  

Construction of theory and practice of regional medical and prevention integrated management system for neonatal deafness based on pediatric intensive medical association

作　　者：王红英[1,2] 张永刚 周丽君 张远 华军 张小伟[1,2] WANG Hong-ying;ZHANG Yong-gang;ZHOU Li-jun;ZHANG Yuan;HUA Jun;ZHANG Xiao-wei(Children's Hospital of Soochow University,Suzhou,Jiangsu 215025,China;Children's Hospital of Wujiang District,Suzhou,Jiangsu 215234,China;不详)

机构地区：[1]苏州大学附属儿童医院,江苏苏州215025 [2]苏州市吴江区儿童医院,江苏苏州215234 [3]苏州市吴江区妇幼保健计划生育服务中心

出　　处：《中国妇幼保健》2024年第3期389-394,共6页Maternal and Child Health Care of China

基　　金：江苏省妇幼健康项目(F202119);江苏省苏州市吴江区“科教兴卫”项目(WWK202020)。

摘　　要：目的 探讨苏州市吴江区基于儿童专科医院紧密型医联体,构建区域新生儿聋病医防融合管理体系的可行性和有效性,评估其对聋病出生缺陷的防控效果。方法 在儿科紧密型医联体的基础上,苏州市吴江区卫生健康委员会组织成立项目工作领导组,于2022年开展新生儿遗传性耳聋基因筛查民生项目,将新生儿基因筛查纳入区域医防融合的健康管理一体化运行平台。对在苏州市吴江区出生的新生儿免费提供4个常见耳聋致病基因(GJB2、GJB3、SLC26A4及MT-RNR1)中20个热点变异的筛查,并结合听力筛查结果对高危儿及其家庭进行遗传咨询、生育指导、诊治、康复及随访的闭环式管理。结果 2022年6月—2023年8月共有8 748例新生儿接受遗传性耳聋基因筛查,覆盖率达98.6%。508例新生儿听力初筛未通过,未通过率为5.8%(508/8 748)。491例新生儿基因筛查未通过(490例携带报告,1例阳性报告),未通过率为5.61%(491/8 748)。490例携带报告中,单基因变异携带482例,双基因变异携带8例;1例阳性报告为SLC26A4基因纯合变异。苏州市吴江地区4个耳聋基因变异总体携带率分别为GJB2(1/37,234/8 748)、SLC26A4(1/65,134/8 748)、MT-RNR1(1/91,96/8 748)及GJB3(1/257,34/8 748)。携带率排名前四变异位点依次为GJB2 c.235delC(1/49)、SLC26A4 c.919-2A>G(1/107)、MT-RNR1 m.1095T>C(1/120)、GJB2 c.299_300delAT(1/219)。491例耳聋基因筛查均电话通知并建议进行遗传咨询,根据累及基因不同变异类型及听力筛查情况给予相应咨询意见。结合联合筛查结果,目前已完成338个新生儿建档及其家庭进行遗传咨询和生育指导。结论 将新生儿基因筛查融入儿童专科紧密型医联体的医防融合管理体系对聋病的防控效果显著,苏州市吴江区耳聋基因筛查模式值得其他地区借鉴和推广。Objective To investigate the feasibility and effectiveness of establishing an integrated medical and preventive integration system for neonatal deafness in Wujiang District,Suzhou City,based on the Pediatric Compact Medical Association,and to assess its effectiveness in preventing and controlling deafness-related birth defects.Methods Building upon the foundation of the Pediatric Compact Medical Association,the Wujiang District Health Committee of Suzhou City formed a project leadership team and initiated the"People's Livelihood"project for genetic screening of neonatal hereditary deafness in 2022.This project integrated neonatal genetic screening into the region's health management platform,emphasizing the fusion of medical treatment and prevention.Free screening for 20 hotspots of four common deafness-causing genes(GJB2,GJB3,SLC26A4,and MT-RNR1)was provided to newborns born in Wujiang District.Alongside hearing screening results,a closed-loop management system was implemented,which included genetic counseling,fertility guidance,diagnosis and treatment,rehabilitation,and follow-up for high-risk infants and their families.Results From June 2022 to August 2023,a total of 8748 neonates underwent genetic screening for hereditary deafness,achieving a coverage rate of 98.6%.Of these,508 neonates did not pass the initial hearing screening,resulting in a non-pass rate of 5.8%(508/8748).A total of 491 neonates did not pass the genetic screening(carrier reports in 490,positive report in 1),resulting in a non-pass rate of 5.61%(491/8748).Among the 490 carrier reports,482 had single-gene mutations,and 8 had dual-gene mutations.One positive report was due to a homozygous mutation in the SLC26A4 gene.The overall rates of variants in the four deafness-related genes in the Wujiang area were as follows:GJB2(1/37,234/8748),SLC26A4(1/65,134/8748),MT-RNR1(1/91,96/8748),GJB3(1/257,34/8748).The top four ranked mutation sites by carrier rate were:GJB2 c.235delC(1/49),SLC26A4 c.919-2A>G(1/107),MT-RNR1 m.1095T>C(1/120),GJB2 c.299_300del

关 键 词：紧密型医联体 新生儿 耳聋基因筛查 出生缺陷防控 医防融合 

分 类 号：R764.29[医药卫生—耳鼻咽喉科]