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Newborn Screening for inherited metabolic disorders; news and views

Newborn screening is important for the early detection of many congenital genetic and metabolic disorders, aimed at the earliest possible recognition and management of affected newborns, to prevent the morbidity, mortality, and disabilities associated with an inherited metabolic disorder. This compr...

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Detalles Bibliográficos
Autores principales: Pourfarzam, Morteza, Zadhoush, Fouzieh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3872591/
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author Pourfarzam, Morteza
Zadhoush, Fouzieh
author_facet Pourfarzam, Morteza
Zadhoush, Fouzieh
author_sort Pourfarzam, Morteza
collection PubMed
description Newborn screening is important for the early detection of many congenital genetic and metabolic disorders, aimed at the earliest possible recognition and management of affected newborns, to prevent the morbidity, mortality, and disabilities associated with an inherited metabolic disorder. This comprehensive system includes; testing, education, follow up, diagnosis, treatment, management, and evaluation. There are major differences among many of the disorders being considered for inclusion in newborn screening programs. In recent times, advances in laboratory technology such as tandem mass spectrometry (MS/MS), which is more specific, sensitive, reliable, and comprehensive than traditional assays, has increased the number of genetic conditions that can be diagnosed through neonatal screening programs at birth. With a single dried filter paper blood spot, MS/MS can identify more than 30 inherited metabolic disorders in around two to three minutes. Advances in the diagnosis and treatment and an increased understanding of the natural history of inborn errors of metabolism have produced pressure to implement expanded newborn screening programs in many countries. Even as many countries throughout the world have made newborn screening mandatory, in Iran, nationwide newborn screening for inherited metabolic disorders other than hypothyroidism has not been initiated, hence, there is little information about these diseases. This article aims to review the recent advances in newborn metabolic screening and its situation in Iran and other countries.
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spelling pubmed-38725912013-12-31 Newborn Screening for inherited metabolic disorders; news and views Pourfarzam, Morteza Zadhoush, Fouzieh J Res Med Sci Review Article Newborn screening is important for the early detection of many congenital genetic and metabolic disorders, aimed at the earliest possible recognition and management of affected newborns, to prevent the morbidity, mortality, and disabilities associated with an inherited metabolic disorder. This comprehensive system includes; testing, education, follow up, diagnosis, treatment, management, and evaluation. There are major differences among many of the disorders being considered for inclusion in newborn screening programs. In recent times, advances in laboratory technology such as tandem mass spectrometry (MS/MS), which is more specific, sensitive, reliable, and comprehensive than traditional assays, has increased the number of genetic conditions that can be diagnosed through neonatal screening programs at birth. With a single dried filter paper blood spot, MS/MS can identify more than 30 inherited metabolic disorders in around two to three minutes. Advances in the diagnosis and treatment and an increased understanding of the natural history of inborn errors of metabolism have produced pressure to implement expanded newborn screening programs in many countries. Even as many countries throughout the world have made newborn screening mandatory, in Iran, nationwide newborn screening for inherited metabolic disorders other than hypothyroidism has not been initiated, hence, there is little information about these diseases. This article aims to review the recent advances in newborn metabolic screening and its situation in Iran and other countries. Medknow Publications & Media Pvt Ltd 2013-09 /pmc/articles/PMC3872591/ Text en Copyright: © Journal of Research in Medical Sciences http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Review Article
Pourfarzam, Morteza
Zadhoush, Fouzieh
Newborn Screening for inherited metabolic disorders; news and views
title Newborn Screening for inherited metabolic disorders; news and views
title_full Newborn Screening for inherited metabolic disorders; news and views
title_fullStr Newborn Screening for inherited metabolic disorders; news and views
title_full_unstemmed Newborn Screening for inherited metabolic disorders; news and views
title_short Newborn Screening for inherited metabolic disorders; news and views
title_sort newborn screening for inherited metabolic disorders; news and views
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3872591/
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