新生儿扩大筛查：给普通儿科医生的最新资讯
Extended newborn screening: an update for the general paediatrician.
作者信息
Coman David, Bhattacharya Kaustuv
机构信息
Department of Metabolic Medicine, The Royal Children's Hospital, Brisbane, Queensland, Australia.
出版信息
J Paediatr Child Health. 2012 Feb;48(2):E68-72. doi: 10.1111/j.1440-1754.2011.02199.x. Epub 2011 Oct 21.
Extended newborn screening (ENBS) with the use of tandem mass spectrometry technology is well established in all Australian states and in New Zealand. ENBS has afforded a marked reduction in morbidity and mortality in select conditions such as medium-chain acyl-CoA dehydrogenase deficiency. While this technology has been of great benefit to newborn screening, it comes with many inherent and unforeseen challenges. In this review, we discuss the successes and challenges associated with ENBS.
在澳大利亚所有州和新西兰，使用串联质谱技术进行的新生儿扩展筛查（ENBS）已得到广泛应用。ENBS在诸如中链酰基辅酶A脱氢酶缺乏症等特定疾病中显著降低了发病率和死亡率。虽然这项技术给新生儿筛查带来了巨大益处，但也伴随着许多内在的和意想不到的挑战。在本综述中，我们讨论了与ENBS相关的成功之处和挑战。
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