间接法探索早产儿和足月儿先天性肾上腺皮质增生症的筛查临界值  

Screening threshold for congenital adrenal hyperplasia in preterm and full-term infants by an indirect method

作　　者：郭静 田国力 朱之星 周卓 纪伟 张潇分 王燕敏 Guo Jing;Tian Guoli;Zhu Zhixing;Zhou Zhuo;Ji Wei;Zhang Xiaofen;Wang Yanmin(Neonatal Screening Center,Shanghai Children′s Hospital,School of Medicine,Shanghai Jiao Tong University,Shanghai 200040,China;Center of Biomedical Informatics,Shanghai Children′s Hospital,School of Medicine,Shanghai Jiao Tong University,Shanghai 200040,China)

机构地区：[1]上海市儿童医院,上海交通大学医学院附属儿童医院新生儿筛查中心,上海200040 [2]上海市儿童医院,上海交通大学医学院附属儿童医院生物医学信息研究中心,上海200040

出　　处：《中华实用儿科临床杂志》2024年第3期182-186,共5页Chinese Journal of Applied Clinical Pediatrics

基　　金：国家自然科学基金培育专项(2021YGZQ09);上海市科委医学创新研究专项(22Y11906900);上海市科学技术委员会科研项目(18441905100);上海交通大学"交大之星"计划医工交叉研究项目(YG2022QN097)。

摘　　要：目的分析间接法建立的先天性肾上腺皮质增生症(CAH)筛查指标血17-羟基孕酮(17-OHP)在早产儿与足月儿临界值的差异及可靠性。方法横断面研究。回顾性分析2019年1月至2022年12月在上海市儿童医院新生儿筛查中心接受CAH筛查的210285例新生儿的资料,其中早产儿14312例,足月儿195973例。采用全自动荧光分析仪测定滤纸干血片上的17-OHP水平。分析早产儿和足月儿血17-OHP水平的分布情况及统计学指标。采用Kolmogorov-Smirnov检验进行正态性分布检验。通过Box-Cox将偏态分布数据转换为近似正态分布。用四分位间距(Turkey)法剔除离群值。采用R语言编程绘制累计频率分布图,并以单边第99.5百分位数值作为筛查临界值。将筛查临界值分别与厂商说明书给定的临界值和实验室临界值进行相对偏差比较。并与参考变化值(RCV)进行比较。结果据实验室现有临界值得出早产儿初筛阳性率为26.76‰,确诊4例,患病率为1∶3578;足月儿初筛阳性率为0.79‰,确诊11例,患病率为1∶17816。采用间接法建立CAH筛查临界值:早产儿为20.35 nmol/L,足月儿为10.78 nmol/L。该临界值与厂商说明书给定的临界值和实验室临界值的相对偏差均高于RCV。依据该筛查临界值,美国疾病预防控制中心室间质量评价计划的13批65份样本的阴性、阳性符合率均达100%;回顾性分析210285例新生儿,确诊CAH阳性患儿17-OHP水平均高于此筛查临界值。应用此筛查临界值早产儿假阳性率降低59.79%。结论采用间接法分别建立早产儿、足月儿CAH筛查临界值,具有可行性,可提高筛查的工作效率,为临床提供更好的诊断依据。Objective To analyze the difference and reliability of blood 17-hydroxyprogesterone(17-OHP),an indirect screening index for congenital adrenal hyperplasia(CAH),between preterm and full-term infants.Methods In this retrospective cross-sectional study,a total of 210285 newborns who underwent CAH screening at the Neonatal Screening Center of Shanghai Children′s Hospital from January 2019 to December 2022 were collected,including 14312 premature infants and 195973 full-term infants.The concentration of 17-OHP in dried blood spots on filter paper was determined by an automatic fluorescence analyzer.The distribution of 17-OHP levels in preterm and full-term infants and its statistical index were analyzed.The Kolmogorov-Smirnov test was used for normal distribution.The skewed distribution data was converted into approximately normal distribution using Box-Cox.Outliers were eliminated by the interquartile range method.The cumulative frequency distribution map was drawn by R language programming.The 99.5th percentile value was used as the screening threshold and compared with the reference value given by the manufacturer or laboratory and with the reference change value(RCV).Results According to the threshold provided by the laboratory,26.76‰of premature infants were tested positive in preliminary screening,and 4 were confirmed with an incidence of 1∶3578,while 0.79‰of full-term infants were tested positive in preliminary screening,and 11 were confirmed with an incidence of 1∶17816.The thresholds for CAH screening established indirectly were 20.35 nmol/L in preterm infants and 10.78 nmol/L in full-term infants.The relative deviations between the indirect CAH screening thresholds and the manufacturer′s or laboratory′s CAH screening thresholds were higher than the RCV,respectively.According to the indirect CAH screening thresholds,the negative and positive coincidence rates of 65 samples in 13 batches from the Centers for Disease Control and Prevention interlaboratory quality assessment program in the United S

关 键 词：肾上腺皮质增生症 先天性 间接法 临界值 新生儿疾病筛查 早产儿 

分 类 号：R722.1[医药卫生—儿科]