Perspective on newborn screening (NBS): evidence sharing on conditions to be included in NBS in Pakistan

Abstract Newborn screening aims at detecting treatable disorders early so that the treatment can be initiated to prevent mortality and morbidity. Such programmes are well established in most developed countries, and all newborns are screened for selected metabolic, endocrine and other disorders b...

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Main Authors: Hafsa Majid, Lena Jafri, Sibtain Ahmed, Khadija Humayun, Salman Kirmani, Natasha Ali, Bushra Moiz, Aysha Habib Khan, Bushra Afroze
Format: Article
Language:English
Published: Pakistan Medical Association 2022-02-01
Series:Journal of the Pakistan Medical Association
Online Access:https://www.ojs.jpma.org.pk/index.php/public_html/article/view/1181
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author Hafsa Majid
Lena Jafri
Sibtain Ahmed
Khadija Humayun
Salman Kirmani
Natasha Ali
Bushra Moiz
Aysha Habib Khan
Bushra Afroze
author_facet Hafsa Majid
Lena Jafri
Sibtain Ahmed
Khadija Humayun
Salman Kirmani
Natasha Ali
Bushra Moiz
Aysha Habib Khan
Bushra Afroze
author_sort Hafsa Majid
collection DOAJ
description Abstract Newborn screening aims at detecting treatable disorders early so that the treatment can be initiated to prevent mortality and morbidity. Such programmes are well established in most developed countries, and all newborns are screened for selected metabolic, endocrine and other disorders based on disease epidemiology, testing and treatment availability, efficiency and cost-effectiveness. Even in developing countries, such screening programmes are initiated using heel prick capillary blood collected on filter paper. The current narrative was planned to provide a perspective with evidence in favour of starting newborn screened for different disorders. The programme project should be initiated nationwide, taking one disorder, congenital hypothyroidism, as the prototype and a newborn screening panel can then be extended to include other disorders. A task force should be set up to recommend disorders to be included in the panel, develop the national plan policies, and define procedures to strengthen the testing.
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spelling doaj.art-d597cac5b25143adbfb9e879086750332023-05-25T04:23:07ZengPakistan Medical AssociationJournal of the Pakistan Medical Association0030-99822022-02-0172310.47391/JPMA.01181Perspective on newborn screening (NBS): evidence sharing on conditions to be included in NBS in PakistanHafsa Majid0Lena Jafri1Sibtain Ahmed2Khadija Humayun3Salman Kirmani4Natasha Ali5Bushra Moiz6Aysha Habib Khan7Bushra Afroze8Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, PakistanDepartment of Pathology and Laboratory Medicine, Aga Khan University, Karachi, PakistanDepartment of Pathology and Laboratory Medicine, Aga Khan University, Karachi, PakistanDepartment of Pediatrics and Child Health, Aga Khan University, Karachi, PakistanDepartment of Pediatrics and Child Health, Aga Khan University, Karachi, PakistanDepartment of Pathology and Laboratory Medicine, Aga Khan University, Karachi, PakistanDepartment of Pathology and Laboratory Medicine, Aga Khan University, Karachi, PakistanDepartment of Pathology and Laboratory Medicine, Aga Khan University, Karachi, PakistanDepartment of Pediatrics, Child Health, Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan Abstract Newborn screening aims at detecting treatable disorders early so that the treatment can be initiated to prevent mortality and morbidity. Such programmes are well established in most developed countries, and all newborns are screened for selected metabolic, endocrine and other disorders based on disease epidemiology, testing and treatment availability, efficiency and cost-effectiveness. Even in developing countries, such screening programmes are initiated using heel prick capillary blood collected on filter paper. The current narrative was planned to provide a perspective with evidence in favour of starting newborn screened for different disorders. The programme project should be initiated nationwide, taking one disorder, congenital hypothyroidism, as the prototype and a newborn screening panel can then be extended to include other disorders. A task force should be set up to recommend disorders to be included in the panel, develop the national plan policies, and define procedures to strengthen the testing. https://www.ojs.jpma.org.pk/index.php/public_html/article/view/1181
spellingShingle Hafsa Majid
Lena Jafri
Sibtain Ahmed
Khadija Humayun
Salman Kirmani
Natasha Ali
Bushra Moiz
Aysha Habib Khan
Bushra Afroze
Perspective on newborn screening (NBS): evidence sharing on conditions to be included in NBS in Pakistan
Journal of the Pakistan Medical Association
title Perspective on newborn screening (NBS): evidence sharing on conditions to be included in NBS in Pakistan
title_full Perspective on newborn screening (NBS): evidence sharing on conditions to be included in NBS in Pakistan
title_fullStr Perspective on newborn screening (NBS): evidence sharing on conditions to be included in NBS in Pakistan
title_full_unstemmed Perspective on newborn screening (NBS): evidence sharing on conditions to be included in NBS in Pakistan
title_short Perspective on newborn screening (NBS): evidence sharing on conditions to be included in NBS in Pakistan
title_sort perspective on newborn screening nbs evidence sharing on conditions to be included in nbs in pakistan
url https://www.ojs.jpma.org.pk/index.php/public_html/article/view/1181
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