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A retrospective study on newborn screening for metabolic disorders

The process of testing newborn infants for hormonal, genetic, metabolic, and other disorders is known as newborn screening (NSB). Newborn screening is essential for detecting, diagnosing, and treating disorders that could save serious consequences for a newborn's health. Congenital Hypothyroidi...

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Autores principales: Singh, Karam Chandrajit, Dhillon, Prabhkiran, Thulaseedharan, Thushara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Biomedical Informatics 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10492907/
https://www.ncbi.nlm.nih.gov/pubmed/37701517
http://dx.doi.org/10.6026/973206300181122
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author Singh, Karam Chandrajit
Dhillon, Prabhkiran
Thulaseedharan, Thushara
author_facet Singh, Karam Chandrajit
Dhillon, Prabhkiran
Thulaseedharan, Thushara
author_sort Singh, Karam Chandrajit
collection PubMed
description The process of testing newborn infants for hormonal, genetic, metabolic, and other disorders is known as newborn screening (NSB). Newborn screening is essential for detecting, diagnosing, and treating disorders that could save serious consequences for a newborn's health. Congenital Hypothyroidism (CH), Cystic Fibrosis (CF), Glucose-6-phosphate dehydrogenase (G6PD) deficiency, and Profound Biotinidase deficiency (BD) are common disorders in India. A retrospective analysis of the results of NBS by Cord blood spots was performed at the department of Obstetrics and Gynecology, 7 Airforce Hospital, Kanpur, Uttar Pradesh, from June 2022 to September 2022. During this period, 26 newborns were screened for four disorders, including CH, CF, G6PD deficiency, and BD. In this investigation, no cases of CH, CF, G6PD deficiency, or BD were found to be positive. The results of the current data provide a distinct opportunity to investigate the birth prevalence of inborn metabolic disorders in the area close to the city of Kanpur.
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spelling pubmed-104929072023-09-11 A retrospective study on newborn screening for metabolic disorders Singh, Karam Chandrajit Dhillon, Prabhkiran Thulaseedharan, Thushara Bioinformation Research Article The process of testing newborn infants for hormonal, genetic, metabolic, and other disorders is known as newborn screening (NSB). Newborn screening is essential for detecting, diagnosing, and treating disorders that could save serious consequences for a newborn's health. Congenital Hypothyroidism (CH), Cystic Fibrosis (CF), Glucose-6-phosphate dehydrogenase (G6PD) deficiency, and Profound Biotinidase deficiency (BD) are common disorders in India. A retrospective analysis of the results of NBS by Cord blood spots was performed at the department of Obstetrics and Gynecology, 7 Airforce Hospital, Kanpur, Uttar Pradesh, from June 2022 to September 2022. During this period, 26 newborns were screened for four disorders, including CH, CF, G6PD deficiency, and BD. In this investigation, no cases of CH, CF, G6PD deficiency, or BD were found to be positive. The results of the current data provide a distinct opportunity to investigate the birth prevalence of inborn metabolic disorders in the area close to the city of Kanpur. Biomedical Informatics 2022-12-31 /pmc/articles/PMC10492907/ /pubmed/37701517 http://dx.doi.org/10.6026/973206300181122 Text en © 2022 Biomedical Informatics https://creativecommons.org/licenses/by/3.0/This is an Open Access article which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. This is distributed under the terms of the Creative Commons Attribution License.
spellingShingle Research Article
Singh, Karam Chandrajit
Dhillon, Prabhkiran
Thulaseedharan, Thushara
A retrospective study on newborn screening for metabolic disorders
title A retrospective study on newborn screening for metabolic disorders
title_full A retrospective study on newborn screening for metabolic disorders
title_fullStr A retrospective study on newborn screening for metabolic disorders
title_full_unstemmed A retrospective study on newborn screening for metabolic disorders
title_short A retrospective study on newborn screening for metabolic disorders
title_sort retrospective study on newborn screening for metabolic disorders
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10492907/
https://www.ncbi.nlm.nih.gov/pubmed/37701517
http://dx.doi.org/10.6026/973206300181122
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