新生儿先天性肾上腺皮质增生症筛查的初步报告

The primary report on neonatal screening for congenital adrenal hyperplasia

目的开展新生儿先天性肾上腺皮质增生症(CAH)筛查,降低残疾儿童的发生率,提高人口素质。方法采用时间分辨荧光免疫分析法检测新生儿滤纸干血片上的17-羟孕酮(17-OHP)浓度。结果筛查93 971例新生儿,确诊5例,CAH发生率为1/18 795;98.7%的新生儿17-OHP<40 nmol/L。结论开展新生儿CAH筛查可以早期诊断和治疗CAH,值得在我国推广。17-OHP的阳性临界值取40 nmol/L是可行的。

Objective To develop the neonatal screening for congenital adrenal hyperplasia （CAH）in order to prevent children from congenital disability and improve the aristogenesis in our country. Methods 17- hydroxyprogesterone （17-OHP） of blood samples was measured by time-resolved fluorescence immunoassay in neonates. Results 93 971 neonates were screened. Five were confirmed as having CAH and the incidence was 1：18 795. 98.7% of 17-OHP level was lower than 40 nmol/L. Conclusions CAH can be diagnosed and prevented by CAH neonatal screening in neonates which is worth to be extended. It is feasible for the 17-OHP positive cut-off to be 40 nmol/L.