Newborn screening samples for diabetes research: An underused resource

dc.contributor.authorEstrella, Jane Frances Grace Lustre
dc.contributor.authorImmanuel, Jincy
dc.contributor.authorWiley, Veronica
dc.contributor.authorSimmons, David
dc.descriptionArticle originally published in Cells, 9(10), 2299. English. Published online 2020.
dc.description.abstractInborn errors of metabolism and diabetes share common derangements in analytes of metabolic networks that are tested for in newborn screening, usually performed 48–72 h after birth. There is limited research examining the metabolic imprint of diabetes on newborn screening results. This paper aims to demonstrate the links between diabetes, biochemical genetics and newborn screening in investigating disease pathophysiology in diabetes, provide possible reasons for the lack of research in diabetes in newborn screening and offer recommendations on potential research areas. We performed a systematic search of the available literature from 1 April 1998 to 31 December 2018 involving newborn screening and diabetes using OVID, MEDLINE, Cochrane and the PROSPERO register, utilizing a modified extraction tool adapted from Cochrane. Eight studies were included after screening 1312 records. Five studies reanalyzed dried blood spots (DBS) on filter paper cards, and three studies utilized pre-existing results. The results of these studies and how they relate to cord blood studies, the use of cord blood versus newborn screening dried blood spots as a sample and considerations on newborn screening and diabetes research is further discussed. The timing of sampling of newborn screening allows insight into neonatal physiology in a catabolic state with minimal maternal and placental influence. This, combined with the wide coverage of newborn screening worldwide, may aid in our understanding of the origins of diabetes.en_US
dc.identifier.citationThis is the published version of an article that is available at: Recommended citation: Estrella, J. F., Immanuel, J., Wiley, V., & Simmons, D. (2020). Newborn screening samples for diabetes research: An underused resource. Cells, 9(10), 2299. This item has been deposited in accordance with publisher copyright and licensing terms and with the author’s permission.en_US
dc.rights.holder© 2020 by the authors.
dc.rights.licenseCC BY 4.0
dc.subjectNewborn screeningen_US
dc.subjectDiabetes mellitusen_US
dc.subjectDried blood spotsen_US
dc.subjectAmino acidsen_US
dc.subjectType 1 diabetesen_US
dc.titleNewborn screening samples for diabetes research: An underused resourceen_US


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