西安地区新生儿先天性肾上腺皮质增生症筛查分析  

Screening analysis of neonatal congenital adrenal hyperplasia in Xi’an,China

作　　者：周扬 杨小艳 孟祥萍 何玉莹 ZHOU Yang;YANG Xiaoyan;MENG Xiangping;HE Yuying(Children Health Care Department,Xi’an Maternity and Child Healthcare Hospital,Xi’an,Shaanxi 710000,China;Neonatal Screening Department,Xi’an Maternity and Child Healthcare Hospital,Xi’an,Shaanxi 710000,China)

机构地区：[1]西安市妇幼保健院儿童保健科,陕西西安710000 [2]西安市妇幼保健院新生儿疾病筛查室,陕西西安710000

出　　处：《中国优生与遗传杂志》2024年第12期2654-2658,共5页Chinese Journal of Birth Health & Heredity

基　　金：西安市卫生健康委员会一般研究项目(2020yb41)。

摘　　要：目的分析西安地区新生儿先天性肾上腺皮质增生症(CAH)的筛查情况,了解西安地区CAH的发病率,探讨CAH筛查假阳性较高的相关影响因素。方法选取2020年1月至2022年12月在西安市新生儿疾病筛查中心进行CAH筛查的新生儿,采用时间分辨荧光免疫法测定干滤纸血片中17α-羟孕酮(17α-OHP)浓度,17α-OHP初筛和复筛值均≥11.00 nmol/L者为筛查阳性并进一步检查进行确诊,根据确诊情况将筛查阳性者分成确诊组和假阳性组,统计CAH发病率,并对确诊组和假阳性组新生儿临床资料进行统计分析,探讨CAH筛查出现假阳性的相关影响因素。结果西安地区CAH发病率为0.081‰(1/12315),CAH筛查假阳性组和确诊组中胎龄、出生体质量、分娩方式、窒息、病理性黄疸、先天性心脏病及母体先兆流产情况比较,差异有统计学意义(P<0.05)。结论西安地区CAH发病率为0.081‰(1/12315),新生儿CAH筛查出现假阳性与胎龄、出生体质量、窒息史、病理性黄疸等多个因素有关,临床上要结合这些因素对CAH筛查结果进行综合判断。Objective To analyze neonatal congenital adrenal hyperplasia(CAH)screening results in Xi’an,investigate incidence of CAH,and explore the relevant factors for the high false-positive rate of CAH screening.Methods Neonates undergoing CAH screening at the Xi’an Neonatal Disease Screening Center were enrolled from January 2020 to December 2022.The concentration of 17α-hydroxyprogesterone(17α-OHP)was measured using time-resolved fluoroimmunoassay in dried blood spots collected on filter paper.Neonates with an initial and rescreening 17α-OHP concentration≥11.00 nmol/L were considered positive and underwent further examined for diagnosis.Screening-positive neonates were divided into a confirmed CAH group and a false-positive CAH group based on their diagnostic status.A statistical analysis was conducted on the incidence of CAH,as well as the clinical data of neonates in the confirmed and false-positive CAH groups,to explore the relevant factors influencing the false-positive rate in CAH screening.Results The incidence of CAH in Xi’an was 0.081‰(1/12315).Statistically significant differences were observed in gestational age,birth weight,mode of delivery,asphyxia,pathological jaundice,congenital heart disease,and maternal threatened miscarriage between the confirmed CAH group and the false-positive CAH group(P<0.05).Conclusion The incidence of CAH is estimated to be 0.081‰(1/12315)in Xi’an.Positive screening results of neonatal CAH screening are associated with multiple factors including gestational age,birth weight,history of asphyxia and pathological jaundice.In clinical practice,a comprehensive assessment of CAH screening results should consider these factors.

关 键 词：先天性肾上腺皮质增生症 17α-羟孕酮 新生儿筛查 假阳性 

分 类 号：R722.1[医药卫生—儿科]