先天性甲状腺功能减低症筛查假阴性病例分析

Analysis of false negative cases in screening congenital hypothyroidism

目的通过对新生儿先天性甲状腺功能减低症(congenital hypothyroidism,CH)筛查假阴性病例分析,探讨提高新生儿CH早期诊断对策。方法回顾性分析2017年1月—2021年12月宁波市新生儿疾病筛查中心经随访发现的CH筛查假阴性病例新生儿出生情况、诊疗情况及母亲孕检情况。结果2017年—2021年宁波市共有369291例新生儿接受CH筛查,筛查率为99.80%,共确诊CH 361例、促甲状腺激素(TSH)增高症420例。确诊病例中发现筛查假阴性病例38例,其中中枢性甲状腺功能减低症(central hypothyroidism,CeH)6例。筛查假阴性病例高危因素分析发现,早产、低体重、双胎、母亲高龄、母亲甲状腺功能异常占比相对较高。结论应加强对早产、双胎新生儿的监管,加强对母亲为高龄、孕期有甲状腺功能异常等高危因素而筛查阴性新生儿的随访力度,以提高CH早期诊断率。

Objective Through the analysis of false negative cases of neonatal congenital hypothyroidism(CH)screening,this paper aims to explore the countermeasures to improve the early diagnosis rate of neonatal CH.Methods Retrospective analysis was performed on neonatal birth,diagnosis and treatment,maternal pregnancy test of false negative cases of CH found by Ningbo Neonatal Disease Screening Center from January 2017 to December 2021.Results A total of 369291 newborns in Ningbo were screened by neonatal CH from 2017 to 2021,with a screening rate of 99.80%,with 361 cases of CH and 420 cases of TSH hyperthyroidism(subclinical hypothyroidism).Among the confirmed cases,38 cases were found to be false negative,including 6 cases of central hypothyroidism(CeH).The analysis of high-risk factors of screening false negative cases showed that preterm delivery,low body weight,twins births,advanced age of mother and abnormal thyroid function of mother accounted for a relatively high proportion.Conclusion We should strengthen the supervision of premature delivery and twins,and strengthen the follow-up of screening negative newborns with high risk factors such as advanced age and abnormal thyroid function during pregnancy,so as to improve the early diagnosis rate of CH.