中国当代儿科杂志2025，Vol.27Issue(6)：654-660,7.DOI:10.7499/j.issn.1008-8830.2412134
云南地区3 001例新生儿基因筛查及随访结果分析
Genetic screening and follow-up results in 3 001 newborns in the Yunnan region
摘要
Abstract
Objective To evaluate the application value of genetic newborn screening(gNBS)in the Yunnan region.Methods A prospective study was conducted with a random selection of 3 001 newborns born in the Yunnan region from February to December 2021.Traditional newborn screening(tNBS)was used to test biochemical indicators,and targeted next-generation sequencing was employed to screen 159 genes related to 156 diseases.Positive-screened newborns underwent validation and confirmation tests,and confirmed cases received standardized treatment and long-term follow-up.Results Among the 3 001 newborns,166(5.53%)were initially positive for genetic screening,and 1 435(47.82%)were genetic carriers.The top ten genes with the highest variation frequency were GJB2(21.29%),DUOX2(7.27%),HBA(6.14%),GALC(3.63%),SLC12A3(3.33%),HBB(3.03%),G6PD(2.94%),SLC25A13(2.90%),PAH(2.73%),and UNC13D(2.68%).Among the initially positive newborns from tNBS and gNBS,33(1.10%)and 47(1.57%)cases were confirmed,respectively.A total of 48(1.60%)cases were confirmed using gNBS+tNBS.The receiver operating characteristic curve analysis demonstrated that the areas under the curve for tNBS,gNBS,and gNBS+tNBS in diagnosing diseases were 0.866,0.982,and 0.968,respectively(P<0.05).DeLong's test showed that the area under the curve for gNBS and gNBS+tNBS was higher than that for tNBS(P<0.05).Conclusions gNBS can expand the range of disease detection,and its combined use with tNBS can significantly shorten diagnosis time,enabling early intervention and treatment.关键词
新生儿筛查/基因/变异/靶向二代测序/新生儿Key words
Newborn screening/Gene/Variant/Targeted next-generation sequencing/Newborn引用本文复制引用
李遨宇,丰娜,章印红,朱宝生,章锦曼,镡颖,林军岳,张杰,周笑颜,陈红,李苏云..云南地区3 001例新生儿基因筛查及随访结果分析[J].中国当代儿科杂志,2025,27(6):654-660,7.基金项目
云南省技术创新人才培养对象项目(202405AD350029) （202405AD350029）
云南省出生缺陷和遗传病研究重点实验室开放课题(2020ZDKFKT001) （2020ZDKFKT001）
云南省生殖妇产疾病临床医学中心开放课题(2022LCZXKF-SZ02). （2022LCZXKF-SZ02）
