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Newborn Screening Samples for Diabetes Research: An Underused Resource

School of Medicine, Macarthur Clinical School, Western Sydney University, Sydney, NSW 2560, Australia
NSW Newborn Screening Program, Sydney, NSW 2145, Australia
Faculty of Medicine and Health, The University of Sydney Children’s Hospital Westmead Clinical School, Sydney, NSW 2145, Australia
Author to whom correspondence should be addressed.
Cells 2020, 9(10), 2299;
Received: 22 August 2020 / Revised: 9 October 2020 / Accepted: 12 October 2020 / Published: 15 October 2020
(This article belongs to the Special Issue Molecular Mechanisms in Metabolic Disease)
Inborn 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. View Full-Text
Keywords: newborn screening; diabetes mellitus; dried blood spots; amino acids; metabolites; type 1 diabetes newborn screening; diabetes mellitus; dried blood spots; amino acids; metabolites; type 1 diabetes
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MDPI and ACS Style

Estrella, J.F.G.L.; Immanuel, J.; Wiley, V.; Simmons, D. Newborn Screening Samples for Diabetes Research: An Underused Resource. Cells 2020, 9, 2299.

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