国际医药卫生导报2012，Vol.18Issue(4)：448-452,5.DOI:10.3760/cma.j.issn.1007-1245.2012.04.002
新生儿先天性肾上腺皮质增生症筛查中17羟孕酮切值的建立
Study on establishment of 17-OHP cut-off point in screening of congenital adrenal hyperplasia
摘要
Abstract
Objective To make a retrospective analysis on the hospital congenital adrenal hyperplasia (CAH) screening data from January 2010 to September 2010,a preliminary study of different gender,gestational age and birth weight of newborns 17-hydroxyprogesterone (17-OHP) distribution,and clinical diagnosis of cases,and set a reasonable screening cut value.Methods We used DELFIA method to detect neonatal peripheral blood 17-OHP concentrations,and used the percentile method to determine the cut value.Results Newborn screening of (17-OHP levels were detected skewed distribution.There were significant differences between different gender,weight and gestational age.According to robust regression statistics gestational age has the best correlation with 17-OHP.So just set cut values grouped premature neonates and normal gestational age newborn.Premature neonates ( ＜ 37W) 17-OHP 99％ percentile value 66.1 nmol/L.Normal gestational age (≥ 37W) newborn 17-OHP 99％ percentile values was 26.6 nmol/L.Followed by tracking statistics from January 2010 to August 2011,17 cases of CAH diagnosed among the 88,061 cases of live births screened newborn,classic type 2 cases,the incidence rate of 1/44030; simple of man in 1 case,the incidence rate of 1/88061; atypical in 14 cases,the incidence rate of 1/6290.Conclusion Zhongshan areas of CAH incidence was significantly lower than the national level.Using a uniform 17-OHP cut value 30 nmol/L for newborn CAH has a certain influence to screening results,it is recommended screening cut-off point of premature neonates should be 60 nmol/L,in order to reduce the false positive rate and recall rate.关键词
先天性肾上腺皮质增生症/新生儿筛查/17羟孕酮/出生孕周/体重/切值Key words
Congenital adrenal hyperplasia(CAH)/Neonatal screening 17-hydroxyprogesterone (17-OHP)/Gestational weeks/Weight/Cut-off point引用本文复制引用
万志丹,黄湘,张翠梅,林翠兰,姚英姿,梁睿,李冬秀,吴学威..新生儿先天性肾上腺皮质增生症筛查中17羟孕酮切值的建立[J].国际医药卫生导报,2012,18(4):448-452,5.基金项目
中山市医学科研基金资助项目(2010079) （2010079）
