GSP分析仪筛查新生儿疾病的性能验证和应用  

Verification and application of genetic screening processor (GSP) for neonatal screening

作　　者：王燕敏[1] 田国力[1] 周卓[1] 郭静[1] 许洪平[1] 姚静[1] 

机构地区：[1]上海市儿童医院新生儿筛查中心,上海200040

出　　处：《临床检验杂志》2017年第2期152-154,共3页Chinese Journal of Clinical Laboratory Science

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：目的用全自动荧光免疫分析仪(Genetic Screening Processor,GSP)检测新生儿先天性甲状腺功能减低症(congenital hypothyroidism,CH)和先天性肾上腺皮质增生症(congenital adrenal hyperplasia,CAH)筛查的指标——促甲状腺激素(thyroidstimulating hormone,TSH)和17羟基孕酮(17-OH-progesterone,17-OHP),评估GSP应用于临床的可行性。方法检测美国疾病预防与控制中心(Centers for Disease Control and Prevention,CDC)的滤纸干血片标本和GSP配套试剂盒内质控品,计算GSP的正确度、精密度和线性;检测临床明确诊断的标本,TSH 1 012例(阳性60例,阴性952例)和17-OHP 991例(阳性34例,阴性957例),ROC曲线统计确定初始cut-off值,比对与临床诊断的一致性。结果 TSH和17OHP的批内不精密度分别为6.69%~12.6%和7.52%~9.29%,批间不精密度分别为6.91%~10.96%和6.86%~12.36%;偏移分别为-14.28%^-0.74%和-0.45%~12.54%;检测结果线性良好;初始cut-off值为23.43 U/m L(TSH)和21.42 ng/m L(17-OHP),敏感性为100%,特异性依次为98.11%和99.58%,与临床诊断结果一致性好。结论 GSP作为新生儿疾病筛查领域的首台全自动荧光免疫分析仪,满足实验室要求,可作为常规技术应用于CH和CAH的筛查。Objective To evaluate the feasibility of PerkinElmer Genetic Screening Processor （GSP） in the application of newborn screening for congenital hypothyroidism （CH） and congenital adrenal hyperplasia （CAH） by detecting thyroid-stimulating hormone （TSH） and 17-OH-progesterone（17-OHP）. Methods The dried-blood spots specimens from Centers for Disease Control and Preven- tion （CDC） and the quality control in the reagent kit were detected and the accuracy, precision and linearity were calculated. A total of 1 012 samples of TSH（60 of positive and 952 negative samples） and 991 samples of 17-OHP（34 positive and 957 negative samples） were detected. The initial cut-off value was determined by ROC curve determined. The consistency between the results from GSP and clinical diagnosis was analyzed. Results The average of within-run coefficient of variation（CV） of TSH and 17-OHP were 6.69% to 12.6% and 7.52% to 9.29%, and the average of between-run CV were 6.91% to 10.96% and 6.86% to 12.36%, respectively. The average of bias of TSH and 17OHP were - 14.28% to -0.74% and -0.45% to 12.54%. The linearity of GSP detection was fine. The initial cut-off values were 23.43 U/mL（TSH） and 21.42 ng/mL（17-OHP）. The sensitivity of GSP detection was 100% and the specificity of TSH and 17-OHP were 98.11% and 99.58% respectively. The results of GSP detection showed good consistency with clinical diagnosis. Conclusion As the first real automatic fluorescence immunoassay analyzer, GSP could be used in routine clinical diagnosis for CH and CAH.

关 键 词：GSP 新生儿疾病筛查 滤纸干血片 全自动检测 

分 类 号：R446[医药卫生—诊断学] R722.11[医药卫生—临床医学]