Guiñón Leonor, Soler Anna, Molina Angel, Marín José Luis, López Rosa María, García-Villoria Judit, Sahuquillo Ángeles, Alvarez Luisa
Quality Department. Biomedical Diagnostic Center. Hospital Clínic of Barcelona; Quality Department. Laboratories. Hospital de la Santa Creu i Sant Pau of Barcelona; Biochemistry Department. Hospital de la Santa Creu i Sant Pau of Barcelona.
Quality Department. Biomedical Diagnostic Center. Hospital Clínic of Barcelona.
Clin Chim Acta. 2020 Nov;510:117-120. doi: 10.1016/j.cca.2020.07.006. Epub 2020 Jul 9.
For the measurands of the newborn screening (NBS), there are no analytical performance specifications (APS) available based on the Milan consensus Models. The objective is to provide total error (TE) APS based on the state-of-the-art (SOTA) for the NBS.
23,662 results were collected from the Spanish NBS EQA scheme between May 2015 and September 2018. Measurands included: thyroid-stimulating hormone (TSH), immunoreactive trypsinogen (IRT), phenylalanine (Phe), tyrosine (Tyr), free carnitine (C0), acetylcarnitine (C2), propionylcarnitine (C3), butyrylcarnitine (C4), isovalerylcarnitine (C5), glutarylcarnitine (C5DC), hexanoylcarnitine (C6), octanoylcarnitine (C8), decanoylcarnitine (C10), myristoylcarnitine (C14), palmitoylcarnitine (C16), stearoylcarnitine (C18). TE APS were calculated as the 90th percentile of the measurement errors, considering 75% of the best results from each laboratory only. It was also studied whether the analytical performance was concentration-dependent.
When TE APS were calculated including all methods, TSH, IRT, C16 and C18 showed the best analytical performance and Phe, C5DC and C10 showed the worst. Generally, TE APS decreased when considering only majority methods and higher TE APS were obtained for lower concentrations.
Due to the lack of APS based on superior models, the proposed TE APS based on the SOTA can help NBS laboratories to set quality specifications.
对于新生儿筛查（NBS）的被测量物，尚无基于米兰共识模型的分析性能规范（APS）。目的是基于最新技术（SOTA）为NBS提供总误差（TE）APS。
2015年5月至2018年9月期间从西班牙NBS外部质量评估计划中收集了23662个结果。被测量物包括：促甲状腺激素（TSH）、免疫反应性胰蛋白酶原（IRT）、苯丙氨酸（Phe）、酪氨酸（Tyr）、游离肉碱（C0）、乙酰肉碱（C2）、丙酰肉碱（C3）、丁酰肉碱（C4）、异戊酰肉碱（C5）、戊二酰肉碱（C5DC）、己酰肉碱（C6）、辛酰肉碱（C8）、癸酰肉碱（C10）、肉豆蔻酰肉碱（C14）、棕榈酰肉碱（C16）、硬脂酰肉碱（C18）。TE APS计算为测量误差的第90百分位数，仅考虑每个实验室75%的最佳结果。还研究了分析性能是否与浓度有关。
当计算包括所有方法的TE APS时，TSH、IRT、C16和C18显示出最佳分析性能，而Phe、C5DC和C10显示出最差性能。一般来说，仅考虑多数方法时TE APS会降低，且较低浓度下获得的TE APS更高。
由于缺乏基于高级模型的APS，所提出的基于SOTA的TE APS可帮助NBS实验室设定质量规范。
