Retrospective analysis of neonatal disease screening results in Jincheng area from 2022 to 2025
晋城地区2022-2025年新生儿疾病筛查结果回顾性分析

摘要

目的 分析晋城地区新生儿疾病筛查现状及流行病学特征，为本地区优化新生儿疾病筛查流程、完善早期诊断与干预管理提供科学依据。方法 回顾性分析2022年1月至2025年12月在晋城市出生并进行苯丙氨酸、促甲状腺激素及17α-羟孕酮检测的新生儿筛查资料，分析各年度新生儿筛查覆盖率、初筛阳性召回率，总结苯丙酮尿症、先天性甲状腺功能减退症及先天性肾上腺皮质增生症的发病率及发病特点。结果 2022年1月至2025年12月晋城市新生儿活产数为55841，筛查人数为55251，筛查率98.94%（55251/55841）；初筛阳性560人，召回复查550例，召回率98.21%（550/560）；苯丙酮尿症确诊21例，总发病率1/2631（21/55251）；先天性甲减确诊33例，总发病率1/1674（33/55251）；先天性肾上腺皮质增生症失盐型确诊1例，总发病率1/55251。此外，筛查还发现高促甲状腺激素血症[促甲状腺激素（TSH）升高但游离甲状腺素（FT4）正常]7例，发病率为1/7893。结论 晋城地区新生儿苯丙酮尿症及先天性甲状腺功能减退症发病率高于全国平均水平，新生儿疾病筛查是实现此类疾病早筛早治的关键手段，对降低儿童致残率、提升本地出生人口素质发挥着不可替代的作用。

Abstract

Objective To analyze the current status and epidemiological characteristics of neonatal disease screening in Jincheng area, so as to provide a scientific basis for optimizing the neonatal disease screening procedure and improving the management of early diagnosis and intervention in this region.
Methods A retrospective analysis was conducted on the neonatal screening data of phenylalanine, thyroid-stimulating hormone and 17α-hydroxyprogesterone detection among newborns delivered in Jincheng City from January 2022 to December 2025. The annual screening coverage rate and initial positive recall rate were analyzed, and the incidence and epidemiological characteristics of phenylketonuria, congenital hypothyroidism and congenital adrenal hyperplasia were summarized.
Results From January 2022 to December 2025, there were 55,841 live births in Jincheng City, among which 55,251 newborns received screening, with a screening rate of 98.94% (55251/55841). A total of 560 cases showed positive initial screening results, and 550 cases were recalled for re-examination, achieving a recall rate of 98.21% (550/560). Twenty-one cases were diagnosed with phenylketonuria, with an overall incidence rate of 1/2631 (21/55251); Thirty-three cases were confirmed as congenital hypothyroidism, with an overall incidence rate of 1/1674 (33/55251); One case was diagnosed with salt-wasting congenital adrenal hyperplasia, with an overall incidence rate of 1/55251.In addition, 7 cases of hyperthyrotropinemia [elevated Thyroid-Stimulating Hormone (TSH) and normal Free Thyroxine(FT4)] were detected in the screening, with an incidence of 1/7893.
Conclusion   The incidences of phenylketonuria and congenital hypothyroidism in Jincheng area are higher than the national average level. Neonatal disease screening is a key measure to realize early screening and early treatment of such diseases, and plays an irreplaceable role in reducing the disability rate of children and improving the quality of local newborn population.