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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Biomedical Informatics
2022
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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. |
format | Online Article Text |
id | pubmed-10492907 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Biomedical Informatics |
record_format | MEDLINE/PubMed |
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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