Neonatal screening part 1. General principles.

Neonatal screening is a widely accepted, cost-effective method for early detection of a variety of inborn errors of metabolism. This early detection improves the outcome in affected children. This series of three articles will examine different aspects of neonatal screening. In this first article, the author discusses general principles, including criteria for test selection, sensitivity and specificity of tests, cost-benefit analyses, laboratory factors in screening, and the role neonatal screening plays in the spectrum of diagnostic techniques for genetic disease. The second article will describe the current status of screening in Canada, the diseases for which screening is currently applied, and the benefits of screening and treatment. In the final article, the author will assess the controversial topics that may form the future of screening.