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目的了解广西地区新生儿先天性肾上腺皮质功能增生症(CAH)筛查情况。方法对广西地区2012年5月至2015年5月出生的活产新生儿进行CAH筛查,采用时间分辨荧光免疫分析法测定干血片中的17-羟孕酮(17-OHP)水平。结果共筛查254 881例活产新生儿,初筛阳性1278例,召回1025例,其中确诊15例,发病率1/16 992。结论广西地区CAH发病率低于全国水平,早筛查、早诊断对于CAH患儿的临床治疗有重要的意义。
Objective To investigate the screening of neonatal congenital adrenal cortical hyperplasia (CAH) in Guangxi. Methods The newborn infants born in Guangxi from May 2012 to May 2015 were enrolled in CAH screening. The level of 17-OHP in dried slices was measured by time-resolved fluorescence immunoassay. Results A total of 254,881 live births were screened, 1278 were positive for primary screening, 1025 were recalled, of which 15 were confirmed and the incidence was 1/16 992. Conclusion The incidence of CAH in Guangxi is lower than the national level. Early screening and early diagnosis are of great significance for the clinical treatment of children with CAH.