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.
Key words
genetic screening processor (GSP) /
newborn screening /
full automatic detection /
17-OH-progesterone
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