关键词: 先天性肾上腺皮质增生症, 17α-羟孕酮, 新生儿

Abstract: 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.

Key words: congenital adrenal hyperplasia, 17α-OHP, newborn