Can Fam Physician. 1990 Feb;36:291-4.
Neonatal screening is a widely accepted, cost-effective method for early detection of various inborn errors of metabolism. This series of three articles examines different aspects of neonatal screening. In the first article, the author discussed general principles of screening and its function in the spectrum of diagnostic techniques for genetic disease. In this, the second article, the author reviews the history and current practices of neonatal screening in Canada. The individual diseases for which screening is used and particular points of interest for each of these diseases are briefly described. The author also outlines the benefits of screening and treatment. In the final article of this series, the author will examine controversial topics that represent the possible future of screening.
新生儿筛查是一种广泛接受的、具有成本效益的方法，可用于早期发现各种先天性代谢缺陷。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，作者讨论了筛查的一般原则及其在遗传疾病诊断技术中的作用。在这第二篇文章中，作者回顾了加拿大新生儿筛查的历史和现状。简要描述了用于筛查的各种疾病以及每种疾病的特定关注点。作者还概述了筛查和治疗的益处。在本系列的最后一篇文章中，作者将探讨代表筛查未来的有争议的话题。
