Newborn screening in Pakistan - lessons from a hospital-based congenital hypothyroidism screening programme.

Document Type



Paediatrics and Child Health


We are living in a time of unprecedented increase in knowledge and rapidly changing technology. Such biotechnology especially when it involves human subjects raises complex ethical, legal, social and religious issues. The establishment of newborn screening programmes in developing countries poses major challenges as it competes with other health priorities like control of infectious diseases, malnutrition and immunization programmes. Despite this, it is imperative that the importance of newborn screening programmes is recognised by developing countries as it has been proven through decades of experience that it saves thousands of babies from mental retardation, death and other serious complications. Pakistan has an estimated population of 167 million inhabitants, 38.3% of whom are under 15 years of age. Pakistan lacks a national programme for newborn screening. However, as individual practice at the local level, Aga Khan University Hospital (AKUH) and a few other hospitals are doing newborn screening for congenital hypothyroidism. The main hurdle in the implementation of newborn screening in Pakistan is the lack of good infrastructure for health. Eighty percent of deliveries take place at home. Moreover, little resources are available for children identified with a genetic condition due to the non-existence of genetic and metabolic services in Pakistan. In a 20-year audit of congenital hypothyroid screening at AKUH we found 10 babies with congenital hypothyroidism. However due to missing data links spanning several years, we were unable to calculate its true incidence during this period. In order to estimate the incidence of congenital hypothyroidism (CH) we reviewed in detail data over 10 months in 2008, a period where there was better compliance for repeat thyroid stimulating hormone (TSH) testing, and found 2 babies with CH. This gave an estimated incidence of 1 in 1600 live births.

Publication (Name of Journal)

Annals of the Academy of Medicine, Singapore