基于一级酶联免疫吸附试验（enzymatic assay）后进行糖胺聚糖（glycosaminoglycans）二级分析的干血斑法对全部黏多糖贮积症（mucopolysaccharidoses）进行新生儿筛查。
Newborn screening for the full set of mucopolysaccharidoses in dried blood spots based on first-tier enzymatic assay followed by second-tier analysis of glycosaminoglycans.
机构信息
Dept. of Chemistry, University of Washington, Seattle, WA 98195, USA.
Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
出版信息
Mol Genet Metab. 2023 Nov;140(3):107698. doi: 10.1016/j.ymgme.2023.107698. Epub 2023 Sep 7.
Abstract
Newborn screening (NBS) for the full set of mucopolysaccharidoses (MPSs) is now possible by either measuring all of the relevant enzymatic activities in dried blood spots (DBS) using tandem mass spectrometry followed by measurement of accumulated glycosaminoglycans (GAGs) or the vice-versa approach. In this study we considered multiple factors in detail including reagent costs, time per analysis, false positive rates, instrumentation requirements, and multiplexing capability. Both NBS approaches are found to provide acceptable solutions for comprehensive MPS NBS, but the enzyme-first approach allows for better multiplexing to include numerous additional diseases that are appropriate for NBS expansion. By using a two-tier NBS approach, the false positive and false negatives rates are expected to acceptably low and close to zero.
摘要
新生儿筛查（NBS）现在可以通过串联质谱法测量干血斑（DBS）中的所有相关酶活性，随后测量累积的糖胺聚糖（GAGs），或者反之亦然，从而对所有黏多糖贮积症（MPSs）进行检测。在这项研究中，我们详细考虑了多种因素，包括试剂成本、每次分析的时间、假阳性率、仪器要求和多重检测能力。这两种 NBS 方法都被认为是全面 MPS NBS 的可行解决方案，但酶法优先的方法可以更好地进行多重检测，以纳入许多适合 NBS 扩展的其他疾病。通过使用两阶段 NBS 方法，假阳性和假阴性率预计可以接受，接近零。
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