2019-2024年北京市新生儿肾上腺皮质增生症筛查情况分析

Analysis of neonatal congenital adrenal hyperplasia screening in Beijing from 2019 to 2024

摘要

目的 通过分析北京市新生儿先天性肾上腺皮质增生症(CAH)的筛查结果,了解北京市新生儿CAH筛查质量和发病情况,总结筛查工作经验,为下一步改进工作提供建议。方法 选择2019至2024年在北京市新生儿疾病筛查中心进行筛查的新生儿作为研究对象,在出生72h后采集足跟血滴于滤纸片,采用时间分辨荧光免疫分析法检测17-羟孕酮(17-OHP)浓度。结果 2019至2024年共筛查新生儿933 581例,筛查率99.93%,初筛阳性率0.31%,召回率94.24%,确诊59例,以失盐型为主;CAH发病率1∶15 823,阳性预测值2.16%,早产儿和低出生体重儿阳性预测值偏低。结论 北京市新生儿先天性肾上腺皮质增生症筛查项目筛查率和阳性召回率较高,有助于早期识别、早期诊治;先天性肾上腺皮质增生症发病率处于全国一般水平,但阳性预测值低,尤其是早产儿和低出生体重儿。筛查流程需进一步优化,以提高阳性预测值、降低假阳性率。

Abstract

Objective To analyze the screening results of congenital adrenal hyperplasia (CAH) in newborns in Beijing,understand the quality and incidence of CAH screening in newborns in Beijing,summarize the screening experience,and provide suggestions for further improvement of the work. Methods Newborns who underwent screening at the neonatal disease screening center in Beijing from 2019 to 2024 were selected as the research subjects.72 hours after birth,heel blood was collected and dropped onto filter paper,and the concentration of 17-hydroxyprogesterone (17-OHP) was detected using time-resolving fluorescence immunoassay. Results From 2019 to 2024,a total of 933 581 newborns were screened,the screening rate was 99.93%,the positive rate of primary screening was 0.31%,the recall rate was 94.24%,and 59 cases were diagnosed,mainly salt-loss type.The incidence of CAH was 1∶15 823,with a positive predictive value of 2.16%,and the positive predictive value was lower in premature infants and low birth weight infants. Conclusions The screening rate and positive recall rate of the congenital adrenal hyperplasia screening project for newborns in Beijing are relatively high,which is conducive to early identification and early diagnosis;the incidence of congenital adrenal hyperplasia in Beijing is at a national average level,but the positive predictive value is low,especially in premature infants and low birth weight infants.The screening process needs to be further optimized to improve the positive predictive value and reduce the false positive rate.

关键词

新生儿疾病筛查 / 先天性肾上腺皮质增生症 / 17-羟孕酮

Key words

newborn screening / congenital adrenal hyperplasia / 17-hydroxyprogesterone

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