Verification and application of genetic screening processor(GSP) for neonatal screening / 临床检验杂志

ABSTRACT

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 Prevention(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 17-0HP(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 170HP 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.