This review is intended to serve as a practical guide for geneticists to current applications of tandem mass spectrometry to newborn screening. By making dried-blood spot analysis more sensitive, specific, reliable, and inclusive, tandem mass spectrometry has improved the newborn detection of inborn errors of metabolism. Its innate ability to detect and quantify multiple analytes from one prepared blood specimen in a single analysis permits broad recognition of amino acid, fatty acid, and organic acid disorders. An increasing number of newborn screening programs are either utilizing or conducting pilot studies with tandem mass spectrometry. It is therefore imperative that the genetics community be familiar with tandem mass spectrometric newborn screening.

中文翻译：

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串联质谱在新生儿筛查遗传性中间代谢异常中的应用。

这篇综述旨在作为遗传学家实用的指南，介绍串联质谱在新生儿筛查中的当前应用。通过使干血斑分析更加灵敏，特异性，可靠和包容性，串联质谱法改善了新生儿对先天性代谢错误的检测。它具有先天的能力，可以通过一次分析从一个准备好的血液样本中检测和定量多种分析物，从而可以广泛识别氨基酸，脂肪酸和有机酸疾病。越来越多的新生儿筛查计划正在利用或通过串联质谱进行先导研究。因此，至关重要的是，遗传学界必须熟悉串联质谱新生儿筛查。