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

Authors

  • Hafsa Majid Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan
  • Lena Jafri Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan
  • Sibtain Ahmed Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan
  • Khadija Humayun Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
  • Salman Kirmani Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan
  • Natasha Ali Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan
  • Bushra Moiz Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan
  • Aysha Habib Khan Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan
  • Bushra Afroze Department of Pediatrics, Child Health, Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan

DOI:

https://doi.org/10.47391/JPMA.01181

Abstract

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.

Published

2022-02-03

How to Cite

Majid, H., Jafri, L., Ahmed, S., Humayun, K., Kirmani, S., Ali, N., Moiz, B., Khan, A. H. ., & Afroze, B. (2022). Perspective on newborn screening (NBS): evidence sharing on conditions to be included in NBS in Pakistan. Journal of the Pakistan Medical Association, 72(3). https://doi.org/10.47391/JPMA.01181

Issue

Section

Special Communication

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