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新生儿筛查第 3 部分:争议问题。

Neonatal screening part 3: controversial issues.

出版信息

Can Fam Physician. 1990 Mar;36:473-6.

Abstract

This series of three articles examines different aspects of neonatal screening. In the first article, the author discussed general principles, including criteria for test selection, sensitivity and specificity of tests, cost-benefit analyses, laboratory factors in screening, and the role of neonatal screening in the spectrum of diagnostic techniques for genetic disease. The second article described the status of screening in Canada, the diseases for which screening is now applied, and the benefits of screening and treatment. In this, the final article of this series, the author describes the controversial topics that represent the possible future of screening. He examines four diseases (cystic fibrosis, hypercholesterolemia, sickle cell disease, and muscular dystrophy) for which we can screen, but currently do not screen in Canada.

摘要

这一系列三篇文章探讨了新生儿筛查的不同方面。在第一篇文章中,作者讨论了一般原则,包括测试选择的标准、测试的灵敏度和特异性、成本效益分析、筛查中的实验室因素,以及新生儿筛查在遗传疾病诊断技术中的作用。第二篇文章描述了加拿大的筛查状况、目前应用于筛查的疾病,以及筛查和治疗的益处。在这一系列的最后一篇文章中,作者描述了代表筛查未来的有争议的话题。他检查了四种疾病(囊性纤维化、高胆固醇血症、镰状细胞病和肌肉营养不良症),我们可以进行筛查,但目前在加拿大没有进行筛查。

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