Evaluation of the Genetic Screening Processor for the Performance of Newborn Screening Tests

Abstract

The collection of dried blood spots (DBSs) on filter paper has been a powerful tool in newborn screening (NBS) programs and in other fields. However, filter paper has been associated with some level of imprecision due to the filter paper matrix effect. In order to minimize measurement variations, these interferences should be evaluated by NBS assays. The aim of this study is to evaluate the performance of genetic screening processor (GSP) equipment in comparison with a widely used AutoDELFIA and to discuss the limitations and advantages of this new technology in NBS. We evaluated the performance of 3 NBS assays in DBS using GSP in comparison with AutoDELFIA. To determine the inaccuracy and the intra-assay precision, a comparative study and a replication experiment were performed. In the comparative study, human thyroid-stimulating hormone (hTSH) assay showed the highest correlation coefficient, followed by 17α-OH-progesterone and immunoreactive trypsinogen (IRT) assays. The results of the present study suggest that the GSP equipment and kits are suitable for implementation and have acceptable performance for NBS routine. Genetic screening processor assay tends to underestimate hTSH and IRT concentrations in the clinically relevant range when compared to AutoDELFIA assays. More studies are necessary to reevaluate cutoff values. Furthermore, the equipment has advantages when compared with AutoDELFIA, such as methodology with more specificity, reduction in the processing time, and randomized routine. This helps promoting faster dynamic technical processes and faster report generation.

Adult and neonate TSH blood spot reference intervals

“…Firstly, the AutoDelfia and GSP instruments are not directly comparable when measuring DBS TSH, as previous studies have shown that the GSP assay has a negative bias of around 10%-20%, when compared to the AutoDelfia assay. 22,23 Secondly, serum/ plasma TSH assays are not always comparable across different platforms and the level of comparability also changes over time with the release of new reagent and calibrator lots. Thirdly, the haematocrit of the blood (as discussed above), the volume of blood used and the punch location, all influence the final DBS TSH result.…”

Application of genetic screening processor in screening neonatal glucose-6-phosphate dehydrogenase deficiency

“…De Castro 等 [9] 应用 GSP 分析仪检测促甲状腺 激素、17-羟孕酮和免疫反应性胰蛋白酶相应试剂 盒的低、高质控品，显示批内和批间精密度分别为 6.0%~14.2%和 4.4%~13.9%；Fingerhut 等 [8] 应用 GSP 分析仪检测促甲状腺激素、17-羟孕酮、免疫反 应性胰蛋白酶、总 T4 和半乳糖-1-磷酸尿苷转移酶 活性相应试剂盒的低、高质控品，显示批内和批间 精密度分别为 2.5%~8.9%和 5.7%~11.0%，平均 回收率为 97.8%~107.1%；国内对苯丙氨酸的检 测发现，美国疾病预防控制中心质控品检测值与 靶值的相对偏倚为-6.7%~19.2%，低、高质控品总 变异系数分别为 7.5%和 7.4% [10] 。上述研究结果 表明，GSP 分析仪精密度和准确度较高，检测值稳 定。GSP 分析仪与 1420 分析仪同步检测临床 G6PD 确诊样本，检测值一致性较高 [11] 。本研究 好的预防作用 [17][18] 。Ainoon 等 [19] 采用半定量荧 光斑点法和定量法同步检测 G6PD，两种方法的疾…”