Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories

Abstract

by Michael H. Gelb,Khaja Basheeruddin,Alberto Burlina,Hsiao-Jan Chen,Yin-Hsiu Chien,George Dizikes,Christine Dorley,Roberto Giugliani,Amy Hietala,Xinying Hong,Shu-Min Kao,Hamid Khaledi,Tracy Klug,Francyne Kubaski,Hsuan-Chieh Liao,Monica Martin,Adrienne Manning,Joseph Orsini,Yin Peng,Enzo Ranieri,add Show full author list
Int. J. Neonatal Screen. 2022, 8(4), 62; https://doi.org/10.3390/ijns8040062 - 13 May 2023
Cited by 15 | Viewed by 5591
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. Full article
(This article belongs to the Special Issue Tandem Mass Spectrometry in Newborn Screening)
13 pages, 1097 KiB
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