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Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *

BACKGROUND: National newborn screening programmes based on tandem-mass spectrometry (MS/MS) and other newborn screening (NBS) technologies show a substantial variation in number and types of disorders included in the screening panel. Once established, these methods offer the opportunity to extend ne...

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Autores principales: Lindner, Martin, Gramer, Gwendolyn, Haege, Gisela, Fang-Hoffmann, Junmin, Schwab, Karl O, Tacke, Uta, Trefz, Friedrich K, Mengel, Eugen, Wendel, Udo, Leichsenring, Michael, Burgard, Peter, Hoffmann, Georg F
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3141366/
https://www.ncbi.nlm.nih.gov/pubmed/21689452
http://dx.doi.org/10.1186/1750-1172-6-44
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author Lindner, Martin
Gramer, Gwendolyn
Haege, Gisela
Fang-Hoffmann, Junmin
Schwab, Karl O
Tacke, Uta
Trefz, Friedrich K
Mengel, Eugen
Wendel, Udo
Leichsenring, Michael
Burgard, Peter
Hoffmann, Georg F
author_facet Lindner, Martin
Gramer, Gwendolyn
Haege, Gisela
Fang-Hoffmann, Junmin
Schwab, Karl O
Tacke, Uta
Trefz, Friedrich K
Mengel, Eugen
Wendel, Udo
Leichsenring, Michael
Burgard, Peter
Hoffmann, Georg F
author_sort Lindner, Martin
collection PubMed
description BACKGROUND: National newborn screening programmes based on tandem-mass spectrometry (MS/MS) and other newborn screening (NBS) technologies show a substantial variation in number and types of disorders included in the screening panel. Once established, these methods offer the opportunity to extend newborn screening panels without significant investment and cost. However, systematic evaluations of newborn screening programmes are rare, most often only describing parts of the whole process from taking blood samples to long-term evaluation of outcome. METHODS: In a prospective single screening centre observational study 373 cases with confirmed diagnosis of a metabolic disorder from a total cohort of 1,084,195 neonates screened in one newborn screening laboratory between January 1, 1999, and June 30, 2009 and subsequently treated and monitored in five specialised centres for inborn errors of metabolism were examined. Process times for taking screening samples, obtaining results, initiating diagnostic confirmation and starting treatment as well as the outcome variables metabolic decompensations, clinical status, and intellectual development at a mean age of 3.3 years were evaluated. RESULTS: Optimal outcome is achieved especially for the large subgroup of patients with medium-chain acyl-CoA dehydrogenase deficiency. Kaplan-Meier-analysis revealed disorder related patterns of decompensation. Urea cycle disorders, organic acid disorders, and amino acid disorders show an early high and continuous risk, medium-chain acyl-CoA dehydrogenase deficiency a continuous but much lower risk for decompensation, other fatty acid oxidation disorders an intermediate risk increasing towards the end of the first year. Clinical symptoms seem inevitable in a small subgroup of patients with very early disease onset. Later decompensation can not be completely prevented despite pre-symptomatic start of treatment. Metabolic decompensation does not necessarily result in impairment of intellectual development, but there is a definite association between the two. CONCLUSIONS: Physical and cognitive outcome in patients with presymptomatic diagnosis of metabolic disorders included in the current German screening panel is equally good as in phenylketonuria, used as a gold standard for NBS. Extended NBS entails many different interrelated variables which need to be carefully evaluated and optimized. More reports from different parts of the world are needed to allow a comprehensive assessment of the likely benefits, harms and costs in different populations.
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spelling pubmed-31413662011-07-23 Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany * Lindner, Martin Gramer, Gwendolyn Haege, Gisela Fang-Hoffmann, Junmin Schwab, Karl O Tacke, Uta Trefz, Friedrich K Mengel, Eugen Wendel, Udo Leichsenring, Michael Burgard, Peter Hoffmann, Georg F Orphanet J Rare Dis Research BACKGROUND: National newborn screening programmes based on tandem-mass spectrometry (MS/MS) and other newborn screening (NBS) technologies show a substantial variation in number and types of disorders included in the screening panel. Once established, these methods offer the opportunity to extend newborn screening panels without significant investment and cost. However, systematic evaluations of newborn screening programmes are rare, most often only describing parts of the whole process from taking blood samples to long-term evaluation of outcome. METHODS: In a prospective single screening centre observational study 373 cases with confirmed diagnosis of a metabolic disorder from a total cohort of 1,084,195 neonates screened in one newborn screening laboratory between January 1, 1999, and June 30, 2009 and subsequently treated and monitored in five specialised centres for inborn errors of metabolism were examined. Process times for taking screening samples, obtaining results, initiating diagnostic confirmation and starting treatment as well as the outcome variables metabolic decompensations, clinical status, and intellectual development at a mean age of 3.3 years were evaluated. RESULTS: Optimal outcome is achieved especially for the large subgroup of patients with medium-chain acyl-CoA dehydrogenase deficiency. Kaplan-Meier-analysis revealed disorder related patterns of decompensation. Urea cycle disorders, organic acid disorders, and amino acid disorders show an early high and continuous risk, medium-chain acyl-CoA dehydrogenase deficiency a continuous but much lower risk for decompensation, other fatty acid oxidation disorders an intermediate risk increasing towards the end of the first year. Clinical symptoms seem inevitable in a small subgroup of patients with very early disease onset. Later decompensation can not be completely prevented despite pre-symptomatic start of treatment. Metabolic decompensation does not necessarily result in impairment of intellectual development, but there is a definite association between the two. CONCLUSIONS: Physical and cognitive outcome in patients with presymptomatic diagnosis of metabolic disorders included in the current German screening panel is equally good as in phenylketonuria, used as a gold standard for NBS. Extended NBS entails many different interrelated variables which need to be carefully evaluated and optimized. More reports from different parts of the world are needed to allow a comprehensive assessment of the likely benefits, harms and costs in different populations. BioMed Central 2011-06-20 /pmc/articles/PMC3141366/ /pubmed/21689452 http://dx.doi.org/10.1186/1750-1172-6-44 Text en Copyright ©2011 Lindner et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research
Lindner, Martin
Gramer, Gwendolyn
Haege, Gisela
Fang-Hoffmann, Junmin
Schwab, Karl O
Tacke, Uta
Trefz, Friedrich K
Mengel, Eugen
Wendel, Udo
Leichsenring, Michael
Burgard, Peter
Hoffmann, Georg F
Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *
title Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *
title_full Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *
title_fullStr Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *
title_full_unstemmed Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *
title_short Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *
title_sort efficacy and outcome of expanded newborn screening for metabolic diseases - report of 10 years from south-west germany *
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3141366/
https://www.ncbi.nlm.nih.gov/pubmed/21689452
http://dx.doi.org/10.1186/1750-1172-6-44
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