Developing a newborn screening system to detect congenital hypothyroidism

Partner Institutes
Queen Mary, University of London	National Health Research Complex, Lahore

Project brief:

Wardah is six, yet starting school is not an option for her. Abnormally short for her age and with distinct facial features, she has the mental age of a one-year old. Instead her mother takes her to a centre for special children thrice a week, where she plays with other children who do not make her feel like an outsider. Wardah is one of the many children in Pakistan who suffer from a thyroid deficiency called congenital hypothyroidism.

The real tragedy is that her condition could have easily been prevented. Congenital hypothyroidism is among several metabolic disorders present at birth that can lead to growth failure and mental retardation. In the developed world, one in every 4000 babies are born with congenital hypothyroidism. But because treatment is so simple and inexpensive, all babies are screened at birth and are treated within one month, to prevent them for being mentally retarded.

In Pakistan, however, the incidence of congenital hypothyroidism is one case per 1000 newborns, which is about 4 times that of the west. More worryingly, there is no means to diagnose the condition at birth, meaning that those born with it have to live with it for the rest of their lives.

The collaboration between Queen Mary, University of London and the National Health Research Complex, Lahore under the INSPIRE banner aims to start and strengthen newborn screening programmes to avoid late diagnosis of congenital disorders that result in unnecessary health and economic burdens for the country and emotional trauma for the family.

Imported systems of screening are very expensive and local hospitals, with their already stretched budgets, do not place great importance on acquiring them. This project plans to develop testing kits locally to make the process of newborn screening inexpensive and accessible to all hospitals across Pakistan. A centralised screening lab has already been established, where blood spot samples are being screened from different hospitals.

National and international in-job technologists, researchers and post-graduate students are also using the facility of this lab, which has been equipped by the donation of the UK link coordinator, the late Dr. Raymond Edwards. 

A very important aspect of the collaboration is to create awareness amongst local communities about congenital disorders so that early screening and diagnosis can be made possible. The project team has carried out awareness campaigns that highlight how simple it is to treat the condition if it is revealed in time. A daily dose of the hormone thyroxin is all that is required to prevent more Wardahs from feeling like they don’t belong.

Lessons learnt: 

The collaboration of Pakistani researchers with labs in the UK has given them the opportunity to broaden their vision, and to learn modern techniques for transfer of technology. They have also learnt to develop reagents at affordable costs for diagnostic use.

Challenges faced:

• Convincing local hospital authorities to implement the screening programme.
• Difficulty in procuring one of the reagents (the detecting antibody).

The impacts/benefits of the project

• Locally developed reagents would be available for establishing a nationwide screening programme. 
• A screening programme for congenital hypothyroidism would be available at an affordable cost and save Pakistan valuable foreign exchange.      
• Newborns could be saved from being mentally handicapped.
• More screening tests could be developed using the same technology.             Further research could be carried out at an affordable cost.

Key contacts:

Prof David Perrett, Queen Mary, University of London 

d.perrett647@btinternet.com, www.qmul.ac.uk/

Farkhanda Ghafoor, National Health Research Complex

fghafoor99@hotmail.com, www.pmrc.org.pk/nhrc.htm