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Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories.
| Content Provider | Europe PMC |
|---|---|
| Author | Gelb, Michael H. Basheeruddin, Khaja Burlina, Alberto Chen, Hsiao-Jan Chien, Yin-Hsiu 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 |
| Editor | Webster, Dianne Schielen, Peter C. J. I. |
| Copyright Year | 2022 |
| 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. |
| Related Links | https://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC9781967&blobtype=pdf |
| Journal | International Journal of Neonatal Screening [Int J Neonatal Screen] |
| Volume Number | 8 |
| DOI | 10.3390/ijns8040062 |
| PubMed Central reference number | PMC9781967 |
| Issue Number | 4 |
| PubMed reference number | 36547379 |
| e-ISSN | 2409515X |
| Language | English |
| Publisher | MDPI |
| Publisher Date | 2022-11-28 |
| Access Restriction | Open |
| Rights License | Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). © 2022 by the authors. |
| Subject Keyword | newborn screening tandem mass spectrometry liquid chromatography dried blood spots inborn errors of metabolism reflex testing |
| Content Type | Text |
| Resource Type | Article |
| Subject | Immunology and Microbiology Pediatrics, Perinatology and Child Health Obstetrics and Gynecology |
