https://scholars.lib.ntu.edu.tw/handle/123456789/627120
Title: | Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories | Authors: | Gelb, Michael H Basheeruddin, Khaja Burlina, Alberto Chen, Hsiao-Jan YIN-HSIU CHIEN 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 |
Keywords: | dried blood spots; inborn errors of metabolism; liquid chromatography; newborn screening; reflex testing; tandem mass spectrometry | Issue Date: | 28-Nov-2022 | Journal Volume: | 8 | Journal Issue: | 4 | Source: | International journal of neonatal screening | 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. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/627120 | ISSN: | 2409-515X | DOI: | 10.3390/ijns8040062 |
Appears in Collections: | 醫學系 |
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