Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories
Journal
International journal of neonatal screening
Journal Volume
8
Journal Issue
4
Date Issued
2022-11-28
Author(s)
Gelb, Michael H
Basheeruddin, Khaja
Burlina, Alberto
Chen, Hsiao-Jan
Dizikes, George
Dorley, Christine
Giugliani, Roberto
Hietala, Amy
Hong, Xinying
Kao, Shu-Min
Khaledi, Hamid
Klug, Tracy
Kubaski, Francyne
Liao, Hsuan-Chieh
Martin, Monica
Manning, Adrienne
Orsini, Joseph
Peng, Yin
Ranieri, Enzo
Rohrwasser, Andreas
Szabo-Fresnais, Nicolas
Turgeon, Coleman T
Vaz, Frédérick M
Wang, Li-Yun
Matern, Dietrich
Abstract
Tandem mass spectrometry (MS/MS) is the most universal platform currently available for the analysis of enzymatic activities and biomarkers in dried blood spots (DBS) for applications in newborn screening (NBS). Among the MS/MS applications in NBS, the most common is flow-injection analysis (FIA-) MS/MS, where the sample is introduced as a bolus injection into the mass spectrometer without the prior fractionation of analytes. Liquid chromatography combined with MS/MS (LC-MS/MS) has been employed for second-tier tests to reduce the false-positive rate associated with several nonspecific screening markers, beginning two decades ago. More recently, LC-MS/MS has been applied to primary screening for new conditions for which FIA-MS/MS or other methods, including genomic screening, are not yet adequate. In addition to providing a list of the currently used LC-MS/MS-based assays for NBS, the authors share their experience regarding the maintenance requirements of LC-MS/MS vs. FIA-MS/MS systems. The consensus is that the maintenance of LC-MS/MS and FIA-MS/MS instrumentation is similar, and LC-MS/MS has the advantage of allowing for a larger number of diseases to be screened for in a multiplex, cost-effective fashion with a high throughput and an adequate turnaround time.
Subjects
dried blood spots; inborn errors of metabolism; liquid chromatography; newborn screening; reflex testing; tandem mass spectrometry
SDGs
Type
review