全自动新生儿疾病筛查系统的性能评价  

Performance evaluation of automatic genetic screening processor for neonatal screening

作　　者：田国力[1] 王燕敏[1] 周卓[1] 郭静[1] 许洪平[1] 姚静[1] TIAN Guoli;WANG Yanmin;ZHOU Zhuo;GUO Jing;XU Hongping;YAO Jing(Neonatal Screening Center,Children's Hospital of Shanghai,Shanghai 200040,China)

机构地区：[1]上海市儿童医院新生儿筛查中心,上海200040

出　　处：《检验医学》2017年第7期633-636,共4页Laboratory Medicine

基　　金：上海市第四轮公共卫生三年行动计划重点学科建设项目(15GWZK0401);上海交通大学多学科交叉项目(YG2015QN27)

摘　　要：目的对全自动新生儿疾病筛查系统(GSP)进行性能评价。方法按照美国临床实验室标准化协会(CLSI)EP15-A2文件的要求,对新生儿先天性甲状腺功能低下症(CH)、先天性肾上腺皮质增生症(CAH)、苯丙酮尿症(PKU)和葡萄糖6磷酸脱氢酶(G6PD)缺乏症4种疾病筛查的对应检测指标——促甲状腺素(TSH)、17-羟基孕酮(17-OHP)、苯丙氨酸(Phe)和G6PD进行检测,评价GSP的精密度、正确度、线性范围等,并与目前临床常规使用的荧光酶免疫分析法(TSH、17-OHP)和荧光法(Phe、G6PD)进行比对。结果 GSP检测TSH、17-OHP、Phe、G6PD批内不精密度和总不精密度均在厂商要求的范围内;与美国疾病预防控制中心(CDC)新生儿筛查室间质评样本靶值的偏移为-8.37%~12.96%,均<1/2允许总误差(TEa)。线性回归方程的截距b为0.83~1.69,r^2>0.95,达到厂商声明的线性要求(r^2≥0.90)。GSP与荧光酶免疫分析法和荧光法的一致性非常好(Kappa值分别为0.83、0.73、0.93和0.97,P<0.001),检测结果高度相关(r值分别为0.97、0.94、0.99、0.91,P<0.001)。结论 GSP的精密度、正确度、线性范围均达到了厂家声明的检测性能,可用于临床检测。Objective To evaluate the performance of automatic genetic screening processor(GSP)for neonatal screening.Methods According to the Clinical and Laboratory Standards Institute(CLSI)EP15-A2document,thyroid stimulating hormone(TSH),17-OH-progesterone(17-OHP),phenylalanine(Phe)and glucose-6-phosphate dehydrogenase(G6PD)were determined in neonatal screening for congenital hypothyroidism(CH),congenital adrenal hyperplasia(CAH),phenylketonuria(PKU)and G6PD deficiency.The precisions,accuracies and linear ranges of4indices were verified.The results were compared with common methods(fluorescence enzyme immunoassay for TSH and17-OHP and fluorescence assay for Phe and G6PD).Results The within-run imprecision and total imprecision were acceptable,and were similar to those published by manufacturers.The biases were<1/2allowable total error(TEa)from-8.37%to12.96%,comparing with the neonatal screening quality assurance program of the U.S.Centers for Disease Control and Prevention(CDC).The b of linear regression equation was0.83-1.69,and r2was>0.95,which was above the manufacturers declared(r2≥0.90).The results between GSP and the common methods had good consistency(Kappa values were0.83,0.73,0.93and0.97,P<0.001)and high correlation(r=0.97,0.94,0.99and0.91,P<0.001).Conclusions The precision,accuracy and linear range of GSP have been achieved the performance of manufacturers'declaration and could be used for neonatal screening.

关 键 词：全自动新生儿疾病筛查系统 促甲状腺素 苯丙氨酸 17-羟基孕酮 葡萄糖6磷酸脱氢酶 

分 类 号：R446.1[医药卫生—诊断学]