Tandem Mass Spectrometry in Newborn Screening A Primer for Neonatal and Perinatal

Since 1961, newborn screening for errors of metabolism (EM) has improved the diagnosis, treat-ment and outcome of newborns with an EM. Recently, advances in laboratory technology with tandem mass spectrometry (MS/MS) has increased the identification of newborns with an EM. With a single dried filter paper blood spot (Guthrie R, Susi A. A simple phenylalanine method for detecting PKU in large populations of newborn infants. Pediatrics. 1963;32:338–343), MS/MS can identify more than 30 disorders of metabolism. This review will explore MS/MS to provide a better understanding of the development and application of this technology to newborn screening for perinatal and neonatal nurses. Key words: errors of metabolism, metabolic diseases, newborn screening, tandem mass spectrometry CONTINUING EDUCATION IN 1961, Dr Robert Guthrie developed a sen-sitive, but simple and inexpensive, screen-ing test for phenylketonuria (PKU).1 This screening test used a bacterial inhibition as-say of dried blood collected on filter paper to measure phenylalanine. With early identi-fication of newborns with PKU, earlier initia