【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。更多还原

【Abstract】 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.更多还原