Department of Pediatrics, Duke University Medical Center, Durham, NC 27713, USA.
Semin Perinatol. 2010 Apr;34(2):163-9. doi: 10.1053/j.semperi.2009.12.008.
Expansion of newborn screening for inherited metabolic disorders using tandem mass spectrometry has generated interest in screening for other treatable conditions, including lysosomal storage diseases. Limitations to expansion include labor and equipment costs. We describe a cost-effective new platform that reduces the time to result reporting and can perform multiplexing assays requiring different platforms. Immunoassays and enzyme activity assays currently used in newborn screening have been translated to a disposable microchip programmed to dispense, transport, mix, wash, and incubate individual microdroplets from specimens, including dried blood spot extracts, and reagents all under software control. The specimen and reagents consumed are approximately 1% of those required by equivalent bench assays. In addition to immunologic and enzymatic assays, DNA amplification, amplicon detection, and sequencing have been demonstrated using the same microchips and control equipment. Recently, the multiplexing of 4 different enzyme activities has also been demonstrated with negligible cross-contamination. We review assays relevant to newborn screening.
利用串联质谱法扩展新生儿遗传代谢疾病筛查引起了人们对其他可治疗疾病（包括溶酶体贮积症）筛查的兴趣。扩展的限制包括劳动力和设备成本。我们描述了一种具有成本效益的新平台，可缩短报告结果的时间，并且可以执行需要不同平台的多重分析。目前用于新生儿筛查的免疫分析和酶活性分析已被转化为一次性微芯片，该微芯片编程为分配、运输、混合、洗涤和孵育来自标本的单个微滴，包括干血斑提取物和试剂，所有这些都在软件控制下进行。与等效的台式分析相比，所需的标本和试剂约为 1%。除了免疫和酶分析之外，还使用相同的微芯片和控制设备证明了 DNA 扩增、扩增子检测和测序。最近，还证明了 4 种不同酶活性的多重分析，几乎没有交叉污染。我们综述了与新生儿筛查相关的分析。
