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Including Classical Galactosaemia in the Expanded Newborn Screening Panel Using Tandem Mass Spectrometry for Galactose-1-Phosphate

Galactosaemia has been included in various newborn screening programs since 1963. Several methods are used for screening; however, the predominant methods used today are based on the determination of either galactose-1-phosphate uridyltransferase (GALT) activity or the concentration of total galacto...

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Autores principales: Cohen, Arieh S., Baurek, Marta, Lund, Allan M., Dunø, Morten, Hougaard, David M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7510209/
https://www.ncbi.nlm.nih.gov/pubmed/33072978
http://dx.doi.org/10.3390/ijns5020019
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author Cohen, Arieh S.
Baurek, Marta
Lund, Allan M.
Dunø, Morten
Hougaard, David M.
author_facet Cohen, Arieh S.
Baurek, Marta
Lund, Allan M.
Dunø, Morten
Hougaard, David M.
author_sort Cohen, Arieh S.
collection PubMed
description Galactosaemia has been included in various newborn screening programs since 1963. Several methods are used for screening; however, the predominant methods used today are based on the determination of either galactose-1-phosphate uridyltransferase (GALT) activity or the concentration of total galactose. These methods cannot be multiplexed and therefore require one full punch per sample. Since the introduction of mass spectrometry in newborn screening, many diseases have been included in newborn screening programs. Here, we present a method for including classical galactosaemia in an expanded newborn screening panel based on the specific determination of galactose-1-phosphate by tandem mass spectrometry. The existing workflow only needs minor adjustments, and it can be run on the tandem mass spectrometers in routine use. Furthermore, compared to the currently used methods, this novel method has a superior screening performance, producing significantly fewer false positive results. We present data from 5500 routine newborn screening samples from the Danish Neonatal Screening Biobank. The cohort was enriched by including 14 confirmed galactosaemia positive samples and 10 samples positive for other metabolic disorders diagnosed through the Danish newborn screening program. All galactosaemia positive samples were identified by the method with no false positives. Furthermore, the screening performance for other metabolic disorders was unaffected.
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spelling pubmed-75102092020-10-15 Including Classical Galactosaemia in the Expanded Newborn Screening Panel Using Tandem Mass Spectrometry for Galactose-1-Phosphate Cohen, Arieh S. Baurek, Marta Lund, Allan M. Dunø, Morten Hougaard, David M. Int J Neonatal Screen Article Galactosaemia has been included in various newborn screening programs since 1963. Several methods are used for screening; however, the predominant methods used today are based on the determination of either galactose-1-phosphate uridyltransferase (GALT) activity or the concentration of total galactose. These methods cannot be multiplexed and therefore require one full punch per sample. Since the introduction of mass spectrometry in newborn screening, many diseases have been included in newborn screening programs. Here, we present a method for including classical galactosaemia in an expanded newborn screening panel based on the specific determination of galactose-1-phosphate by tandem mass spectrometry. The existing workflow only needs minor adjustments, and it can be run on the tandem mass spectrometers in routine use. Furthermore, compared to the currently used methods, this novel method has a superior screening performance, producing significantly fewer false positive results. We present data from 5500 routine newborn screening samples from the Danish Neonatal Screening Biobank. The cohort was enriched by including 14 confirmed galactosaemia positive samples and 10 samples positive for other metabolic disorders diagnosed through the Danish newborn screening program. All galactosaemia positive samples were identified by the method with no false positives. Furthermore, the screening performance for other metabolic disorders was unaffected. MDPI 2019-05-04 /pmc/articles/PMC7510209/ /pubmed/33072978 http://dx.doi.org/10.3390/ijns5020019 Text en © 2019 by the authors. 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 (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Cohen, Arieh S.
Baurek, Marta
Lund, Allan M.
Dunø, Morten
Hougaard, David M.
Including Classical Galactosaemia in the Expanded Newborn Screening Panel Using Tandem Mass Spectrometry for Galactose-1-Phosphate
title Including Classical Galactosaemia in the Expanded Newborn Screening Panel Using Tandem Mass Spectrometry for Galactose-1-Phosphate
title_full Including Classical Galactosaemia in the Expanded Newborn Screening Panel Using Tandem Mass Spectrometry for Galactose-1-Phosphate
title_fullStr Including Classical Galactosaemia in the Expanded Newborn Screening Panel Using Tandem Mass Spectrometry for Galactose-1-Phosphate
title_full_unstemmed Including Classical Galactosaemia in the Expanded Newborn Screening Panel Using Tandem Mass Spectrometry for Galactose-1-Phosphate
title_short Including Classical Galactosaemia in the Expanded Newborn Screening Panel Using Tandem Mass Spectrometry for Galactose-1-Phosphate
title_sort including classical galactosaemia in the expanded newborn screening panel using tandem mass spectrometry for galactose-1-phosphate
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7510209/
https://www.ncbi.nlm.nih.gov/pubmed/33072978
http://dx.doi.org/10.3390/ijns5020019
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