Fukushi M, Arai O, Mizushima Y, Takasugi N, Fujieda K, Matsuura N
Nihon Naibunpi Gakkai Zasshi. 1986 Jun 20;62(6):683-96. doi: 10.1507/endocrine1927.62.6_683.
An enzyme immunoassay for measuring 17 alpha-hydroxyprogesterone (17-OHP) in dried blood collected on filter paper has been developed. The method is easy and rapid and has specificity, accuracy and precision. 17-OHP values of neonates with congenital adrenal hyperplasia (CAH, 40 ng/ml) were extremely high compared with normal neonates (1.1 +/- 0.7 ng/ml). There was a negative correlation between the 17-OHP value and birth weight. The method has been applied to neonatal screening for CAH due to 21-hydroxylase deficiency. During 38 months, 67,392 neonates were screened. The recall rate and the medical evaluation rate were 1.16% and 0.09%, respectively. A third of recalled neonates were low birth weight infants. 5 neonates were proven to have CAH, and its incidence was 1:13,478. The present study demonstrates the feasibility of a neonatal screening for CAH and indicates that the frequency of CAH may be greater than previously reported by case assessment method in Japan.
已开发出一种用于测量滤纸上采集的干血中17α-羟孕酮（17-OHP）的酶免疫测定法。该方法简便、快速，具有特异性、准确性和精密度。与正常新生儿（1.1±0.7 ng/ml）相比，先天性肾上腺皮质增生症（CAH，40 ng/ml）新生儿的17-OHP值极高。17-OHP值与出生体重呈负相关。该方法已应用于因21-羟化酶缺乏导致的CAH新生儿筛查。在38个月期间，对67392名新生儿进行了筛查。召回率和医学评估率分别为1.16%和0.09%。三分之一被召回的新生儿为低体重儿。5名新生儿被证实患有CAH，其发病率为1:13478。本研究证明了CAH新生儿筛查的可行性，并表明CAH的发病率可能高于日本此前通过病例评估方法报告的发病率。
