Cheillan D, Cognat S, Vianey-Saban C, Maire I, Dorche C
Service de biochimie pédiatrique, Hôpital Debrousse, Lyon.
Ann Biol Clin (Paris). 2004 May-Jun;62(3):269-77.
The recent evolution of tandem mass spectrometry allows to diagnose more than twenty inherited metabolic diseases within a single blood spot. Nowadays, it is technically possible to screen newborns for most of fatty acid oxidation, organic acid and amino acid disorders. An important number of prospective pilot studies, using tandem mass spectrometry, have been done worldwide. However, several technical, economical, medical and ethical problems are raised by these applications. This review is intended to focus on this technology and to resume results from the main international studies.
串联质谱技术的最新进展使得在一张血斑中就能诊断出二十多种遗传性代谢疾病。如今，从技术上来说，对大多数脂肪酸氧化、有机酸和氨基酸紊乱疾病进行新生儿筛查是可行的。全球范围内已经开展了大量使用串联质谱技术的前瞻性试点研究。然而，这些应用引发了一些技术、经济、医学和伦理问题。本综述旨在聚焦于这项技术，并总结主要国际研究的成果。
