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新生儿筛查实验室打来的电话:午后的烦心事。

The call from the newborn screening laboratory: frustration in the afternoon.

作者信息

Rhead William J, Irons Mira

机构信息

Departments of Pediatrics and Pathology, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA.

出版信息

Pediatr Clin North Am. 2004 Jun;51(3):803-18, xii. doi: 10.1016/j.pcl.2004.01.009.

Abstract

Newborn screening programs in the United States are evolving in concert with technologic advances in analytic chemistry and medicine. Many more disorders are being identified on dried filter paper blood spots without fundamentally altering the basic principles first put forward in the 1960s. Some disorders have been added without researchers knowing if there is a true benefit to early diagnosis and treatment; some disorders currently being detected will merit little or no follow-up in the future. The general principles underlying newborn screening are discussed, as are the individual disorders screened in most programs. The expanding and evolving impact of tandem mass spectrometry on newborn screening is also explored.

摘要

美国的新生儿筛查项目正随着分析化学和医学领域的技术进步而不断发展。通过干滤纸血斑能够检测出更多疾病,而并未从根本上改变20世纪60年代首次提出的基本原则。有些疾病被纳入筛查项目时,研究人员并不清楚早期诊断和治疗是否真的有益;目前检测出的一些疾病在未来几乎不需要或根本不需要后续跟进。本文讨论了新生儿筛查的一般原则,以及大多数项目中筛查的个别疾病。还探讨了串联质谱对新生儿筛查日益扩大和不断演变的影响。

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