生化联合基因筛查在新生儿甲状腺功能减退症中的应用
Application of Biochemical and Genetic Screening in Neonatal Hypothyroidism
阿如娜 1黄艳 2黄丽 3冀云鹏 2王晓华2
作者信息
- 1. 内蒙古科技大学包头医学院,内蒙古包头 014040
- 2. 内蒙古自治区妇幼保健院遗传科,呼和浩特 010050
- 3. 巴彦淖尔市临河区人民医院肌电图室,内蒙古 巴彦淖尔 015000
- 折叠
摘要
目的 探讨生化联合基因筛查在新生儿甲状腺功能减退症(congenital hypothyroidism,CH)中的诊断价值.方法 回顾性分析2021年2-12月在内蒙古自治区妇幼保健院同时接受生化筛查和基因筛查的新生儿干血滤纸片样本3233份,应用高通量测序技术对4种候选致病基因(DUOX2、DUOXA2、TSHR、PROP1)进行联合筛查,并分析筛查结果,对基因筛查携带者进行随访,以12月龄为随访终点.结果 3233例新生儿中,生化联合基因筛查共确诊4例,生化筛查阳性3例、基因检测阳性1例;生化联合基因筛查的符合率为99.97％,Kappa值为0.86,灵敏度为100％,假阴性率为0％,特异度为99.97％,假阳性率为0.03％,正确指数为99.97％,阳性似然比为3333.33,阴性似然比为0,阳性预测值为75％,阴性预测值100％.结论 生化联合基因筛查可弥补单纯生化筛查数据的不稳定性,最大程度减低漏诊.
Abstract
Objective To explore the diagnostic value of biochemical combined genetic screening method in neonatal hypothyroidism(congenital hypothyroidism,CH).Methods Retrospective analysis of 3233 cases of neonatal dry blood filter samples undergoing biochemical screening and genetic screening in maternal and child health hospitals of Inner Mongolia Autonomous Region from February to December 2021,joint screening by high-throughput sequencing of four candidate pathogenic genes(DUOX 2,DUOXA2,TSHR,PROP 1),analysis of screening results and follow-up at 12 months.Results Among the 3233 newborns,4 cases were confirmed by biochemical combined genetic screening,3 cases were positive;the coincidence rate was 99.97％,Kappa value 0.86,sensitivity 100％,false negative rate 0％,specificity 99.97％,false positive rate 0.03％,correct index was 99.97％,positive likelihood ratio was 3333.33,negative likelihood ratio 0,positive predictive value 75％,and negative predictive value 100％.Conclusion Biochemical combined genetic screening can make up for the instability of simple biochemical screening data and minimize missed diagnosis.
关键词
新生儿疾病筛查/甲状腺功能减退症/生化筛查/基因筛查Key words
neonatal disease screening/hypothyroidism/biochemical screening/genetic screening引用本文复制引用
基金项目
内蒙古自治区关键技术攻关计划项目(2021GG0130)
出版年
2024
NETL
NSTL
万方数据