A review of newborn screening in the era of tandem mass spectrometry: what's new for the pediatric neurologist?

摘要

Newborn screening has evolved from a single test for a single metabolite to a test that detects more than 90 metabolites on a single blood spot. In the past decade, the panel of newborn-screening disorders has rapidly expanded and will continue to grow as more is discovered about the human genome. It continues to be a very sensitive population screening tool that is susceptible to the status of the infant and the timing of the specimen collection. This review discusses the disorders that should be detected on neonatal bloodspot screening and what pediatric neurologists may see in those that were detected on newborn screening and treated and those that have been untreated.