目的 通过对青岛地区新生儿足跟血17α-羟孕酮(17α-OHP)的检测,了解本地区先天性肾上腺皮质增生症(CAH)的筛查结果及发病情况。方法 采用时间分辨免疫荧光(TRFIA)法,对青岛地区所有的助产机构2013年1月-2017年12月出生的新生儿的滤纸干血片进行17α-OHP测定。初次采血两次检测结果17α-OHP≥30 nmol/L为可疑阳性。对于初筛可疑阳性的新生儿由专人通知召回并再次采血复查17α-OHP值。两次采血17α-OHP 结果皆阳性即由青岛市妇女儿童医院儿保科诊查并继续做进一步确诊。结果 青岛地区2013年1月-2017年12月新生儿17α-OHP筛查普及率99.23％,时间分辨荧光免疫分析法初筛阳性2 536例(0.448％);复查召回率91.09％,确诊CAH 32例,CAH发病率为0.056‰,与宁夏、淄博、山西、宁波、南昌等地区相比,差异无统计学意义(P>0.05)。结论 CAH初期筛查工作已基本全面覆盖青岛地区新生儿。青岛地区CAH发病率略低于全国水平,与国内其他地区比较发病率无显著差异。建议根据新生儿胎龄、体重分别设立切值以降低假阳性率、减少召回率,提高筛查准确率。

Objective To test the level of 17α-OHP in newborn blood spot test,in order to know about the screening result and the morbidity of congenital adrenal hyperplasia(CAH) in Qingdao. Methods Dried blood specimens in filter paper of newborns born from January 2013 to December 2017 in delivery institutions of Qingdao were collected and detected for 17α-OHP level by time-resolved fluoroimmunoassay(TRFIA). Specimens with 17α-OHP level ≥30 nmol/L(the first sampling specimen in the two detection Results) were considered as suspected positive. Newborns with suspected positive Results were informed and recalled for blood specimen recollection and 17α-OHP redetection. Those whose detection Results of two sampling specimens were both positive would be examined in Department of Children Healthcare of Qingdao Women & Children Hospital for further confirmation. Results The screening rate of 17α-OHP for newborns born from January 2013 to December 2017 in Qingdao was 99.23％. And 2 536(0.448％) cases were diagnosed as suspected positive by TRFIA,among whom 91.09％ were recalled for redetection. Finally 32(0.056‰) cases with CAH were confirmed. There were no significant difference on the incidence rate of CAH among Ningxia,Zibo,Shanxi,Ningbo,Nanchang and Qingdao(P＞0.05). Conclusions The initial screening of CAH has covered almost all newborns in Qingdao. The morbidity of CAH of Qingdao is slightly lower than that of China,with no drastic difference compared with the other areas in China. The reference range of 17α-OHP should be set according to the gestational age and the weight of newborns to decrease false positive rate and to increase accuracy of screening.