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 review was planned to provide a perspective with evidence in favour of starting newborn screening 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.
Original language | English |
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Pages (from-to) | 526-531 |
Number of pages | 6 |
Journal | Journal of the Pakistan Medical Association |
Volume | 72 |
Issue number | 3 |
DOIs | |
Publication status | Published - Mar 2022 |
Keywords
- Biotinidase deficiency
- Congenital adrenal hyperplasia
- Congenital hypothyroidism
- Galactosemia
- Hemoglobinopathies
- Newborn screening
- Pakistan
- Sickle cell disease