Neonatal Screening using Shimadzu LCMS-8040

Introduction

The development of electrospray tandem mass spectrometry (LCMS/MS) in recent years has facilitated the introduction of expanded newborn screening programmes in many countries. This technology has increased the capacity to test newborns for rare metabolic disorders during the neonatal period. LCMS/MS can identify and quantify several acylcarnitines, amino acids, adenosine, deoxyadenosine and succynilacetone^1,2 and is able to detect more than 40 inborn errors of metabolism in a single test, allowing a change from the concept “one spot, one test, one disease” to “one spot, one test, many diseases”.