贵阳市新生儿筛查中心新生儿先天性肾上腺皮质增生症筛查分析

Analysis of the screening results of neonatal congenital adrenal hyperplasia in Guiyang neonatal disease screening

目的探讨贵阳市新生儿遗传代谢病筛查中心新生儿先天性肾上腺皮质增生症(CAH)的筛查数据,了解本地新生儿CAH的发病情况,总结筛查经验,讨论整改措施。方法对来自贵阳市65家助产机构出生于2019—2020年的118670例新生儿干血斑标本,应用时间分辨免疫荧光法分析干血滤纸片上的17-羟孕酮(17-hydroxyprogesterone,17-OHP)水平。结果在中心检测的118670名新生儿中,有6名被诊断患有CAH(男性3名,女性3名),CAH在本市的发生率为1∶19778。不同性别、出生体重、早产和足月儿组间17-OHP指标浓度值差异有统计学意义(P<0.05)。结论新生儿肾上腺皮质增生症筛查有利于对新生儿进行早期诊断及治疗。本病在贵阳地区的发病率为1∶19778。

Objective To analyze the screening data of neonatal congenital adrenal hyperplasia in Guiyang Neonatal Disease Screening Center and understand the incidence of CAH in local newborns,summarize the screening experience,and discuss corrective measures.Methods Use Time-resolved fluorescence to analyze the 17-hydroxyprogesterone(17-OHP)concentration of the neonatal dried blood spot on the filter paper were collected from 118670 newborns in 65 Maternal and Child Health Care Hospital.Results A total of 6 cases were diagnosed with congenital adrenal hyperplasia among the 118670 newborns.There were statistically significant differences in the concentration of 17-OHP between groups of different genders,birth weights,preterm and full-term infants(P<0.05).Conclusion CAH screening for newborns is conducive to early diagnosis and early treatment.The incidence of this disease in Guiyang is 1:19778.