利用GSP分析仪筛查新生儿先天性肾上腺皮质增生症的性能验证及应用

目的 利用GSP分析仪检测新生儿先天性肾上腺皮质增生症(CAH)筛查的指标——血17羟孕酮(17-OHP),分析GSP性能,并比较GSP与AutoDELFIA 1235检测方法的一致性,评估GSP分析仪及检测方法应用于新生儿CAH筛查的可行性。方法 1)检测GSP 17-OHP测定试剂盒3305-0010自带质控品和美国疾病预防与控制中心(Centers for Disease Control and Prevention, CDC)发放的17-OHP室间质评标本,通过计算不精密度、正确度和线性评估GSP筛查CAH的性能;2)收集用AutoDELFIA 1235检测出的可疑阳性样本108例及未检测的新筛样本2 180例,分别用GSP和AutoDELFIA 1235进行检测,分析两种方法的一致性,并比对GSP与临床诊断的一致性;3)通过百分位法统计分析确定初始的切值(cut off值)。结果 1)GSP检测17-OHP的批内和批间精密度分别为3.35%~5.35% 和 3.07%~6.21%;正确度、线性符合要求;2)GSP和AutoDELFIA 1235筛查CAH的阳性、阴性和总的一致性分别为59.7%、99.8%和97.7%,GSP检测CAH的敏感性和特异性分别为100%、96.93%;(3)GSP筛查CAH时17-OHP的初始cut off值设为12.0 nmol/L。结论 1)GSP分析仪的性能满足实验室要求,可应用于新生儿CAH的筛查。2)GSP检测17-OHP与AutoDELFIA 1235相比,其检测方法的特异性更高,检测值更低,GSP应用于CAH筛查需要根据统计结果重新设定新的cut off值。

Evaluation of the performance of genetic screening processor in screening for congenital adrenal hyperplasia in newborns

Objectives To evaluate the feasibility of genetic screening processor (GSP) equipment applied in the screening for congenital adrenal hyperplasia (CAH) in newborns by detecting 17-OH-progesterone (17-OHP) in blood, and to analyze the consistency between GSP and AutoDELFIA 1235 method.Methods 1) The performance of GSP applied in CAH screening was evaluated through calculating the inaccuracy, precision and linearity of GSP in detecting 17-OHP of dried blood spots specimens from American centers for disease control and prevention(CDC)and the quality control in the reagent kit. 2) A total of 2288 samples (2180 unknown and 108 AutoDELFIA 1235 positive samples) were detected by GSP and AutoDELFIA 1235, and the consistency between GSP and AutoDELFIA 1235 as well as clinical diagnosis was analyzed.3) The initial cut off value was determined by percentile statistical analysis.Results 1) The average of within-run coefficient of variation (CV) and between-run CV were 3.35%~5.35% and 3.07%~6.21%, respectively. The precision and linearity of GSP detection were fine. 2) The positive, negative and total consistency of GSP and AutoDELFIA 1235 were 59.7%, 99.8% and 97.7% respectively.The sensitivity and specificity of GSP were 100% and 96.93%, respectively. 3) It is recommended to use 12 nmol/L as cutoff value.Conclusions 1) GSP equipment and kits are suitable for implementation and have acceptable performance for NBS of CAH. 2) GSP method has advantages compared with AutoDELFIA 1235, such as higher specificity. GSP methodology tends to underestimate 17-OHP concentration when compared with AutoDELFIA assay, so more clinical studies are warranted to reevaluate cutoff value.