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

Hafsa Majid, Lena Jafri, Sibtain Ahmed, Khadija Humayun, Salman Kirmani, Natasha Ali, Bushra Moiz, Aysha Habib Khan, Bushra Afroze

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)


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 languageEnglish
Pages (from-to)526-531
Number of pages6
JournalJournal of the Pakistan Medical Association
Issue number3
Publication statusPublished - Mar 2022


  • Biotinidase deficiency
  • Congenital adrenal hyperplasia
  • Congenital hypothyroidism
  • Galactosemia
  • Hemoglobinopathies
  • Newborn screening
  • Pakistan
  • Sickle cell disease


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