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[作为预测性基因检测的新生儿筛查:原则与挑战]

[Newborn screening as a predictive genetic test: principles and challenges].

作者信息

Zschocke Johannes

机构信息

Division für Humangenetik, Medizinische Universität Innsbruck, Innsbruck, Austria.

出版信息

Wien Med Wochenschr. 2012 Apr;162(7-8):168-75. doi: 10.1007/s10354-012-0062-7. Epub 2012 Mar 28.

DOI:10.1007/s10354-012-0062-7
PMID:22451084
Abstract

Universal newborn screening for a range of mostly inherited metabolic and endocrine disorders, started in mid-1960ies, is a success story of preventive medicine. New technological advances particularly in the last 10-15 years have led to an expansion of newborn screening in many countries. This has allowed introduction of sometimes life-saving preventive measures in more children, but it has also become more obvious that screening may not be prudent for all conditions in which it is technically feasible. The present article provides criteria that have been used or discussed for the inclusion of "new" disorders in newborn screening programs, and highlights exemplary metabolic disorders that illustrate imminent challenges. In order to secure long-term acceptance of universal newborn screening within the society, its aims and contents should be determined through a transparent decision finding process. This may best be achieved through the establishment of a representative newborn screening advisory board.

摘要

始于20世纪60年代中期的针对一系列主要遗传性代谢和内分泌疾病的新生儿普遍筛查,是预防医学的一个成功案例。特别是在过去10至15年里的新技术进展,促使许多国家扩大了新生儿筛查。这使得更多儿童能够采取有时可挽救生命的预防措施,但同时也愈发明显的是,对于所有在技术上可行的疾病进行筛查可能并不审慎。本文提供了已被用于或讨论过的将“新”疾病纳入新生儿筛查项目的标准,并着重介绍了说明紧迫挑战的典型代谢性疾病。为确保社会长期接受新生儿普遍筛查,其目标和内容应通过透明的决策过程来确定。这最好通过设立一个具有代表性的新生儿筛查咨询委员会来实现。

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本文引用的文献

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The national Austrian newborn screening program - eight years experience with mass spectrometry. past, present, and future goals.奥地利全国新生儿筛查计划 - 八年的质谱法经验。过去、现在和未来的目标。
Wien Klin Wochenschr. 2010 Nov;122(21-22):607-13. doi: 10.1007/s00508-010-1457-3. Epub 2010 Oct 15.
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3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy.3-甲基戊二酸尿症 I 型的再定义:一种具有晚发性脑白质病的综合征。
Neurology. 2010 Sep 21;75(12):1079-83. doi: 10.1212/WNL.0b013e3181f39a8a.
3
New technologies extend the scope of newborn blood-spot screening, but old problems remain unresolved.
新技术扩展了新生儿足跟血筛查的范围,但旧问题仍未得到解决。
Acta Paediatr. 2010 Dec;99(12):1766-72. doi: 10.1111/j.1651-2227.2010.01950.x.
4
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.检测 143 例系统性肉碱缺乏症患者中 SLC22A5(OCTN2)基因突变的分子谱。
Hum Mutat. 2010 Aug;31(8):E1632-51. doi: 10.1002/humu.21311.
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Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.短链酰基辅酶 A 脱氢酶缺乏症的临床方面。
J Inherit Metab Dis. 2010 Oct;33(5):507-11. doi: 10.1007/s10545-010-9080-z. Epub 2010 Apr 29.
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The lure of treatment: expanded newborn screening and the curious case of histidinemia.治疗的诱惑:扩大新生儿筛查与组氨酸血症的奇特案例
Pediatrics. 2010 Mar;125(3):417-9. doi: 10.1542/peds.2009-2060. Epub 2010 Feb 15.
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Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.新生儿筛查发现的母体系统原发性肉碱缺乏症:临床、生化和分子方面。
Genet Med. 2010 Jan;12(1):19-24. doi: 10.1097/GIM.0b013e3181c5e6f7.
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Newborn screening for Krabbe disease: the New York State model.克拉贝病的新生儿筛查:纽约州模式。
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Thrombophilia testing in people with venous thromboembolism: systematic review and cost-effectiveness analysis.静脉血栓栓塞症患者的血栓形成倾向检测:系统评价与成本效益分析
Health Technol Assess. 2009 Jan;13(2):iii, ix-x, 1-91. doi: 10.3310/hta13020.
10
Decreasing uptake of predictive testing for Huntington's disease in a German centre: 12 years' experience (1993-2004).德国一家中心亨廷顿舞蹈病预测性检测接受率的下降:12年经验(1993 - 2004年)
Eur J Hum Genet. 2009 Mar;17(3):295-300. doi: 10.1038/ejhg.2008.164. Epub 2008 Sep 10.