Preventing Congenital Hypothyroidism by Newborn Screening


There are many children in Pakistan who happen to suffer from a thyroid gland disorder called Congenital Hypothyroidism. She may be six years old in age and ideally, like her peers she should be about start school. However a girl with Congenital Hypothyroidism will be shorter than her peers and have the mentality of a one year old. She will be attending a special needs school and need round the clock care.

What is deeply saddening is this young girls life could have been different if only she had been treated at birth. Congenital Hypothyroidism (CH) is one of the many metabolic disorders that can be detected at birth and which if progresses may lead to failure of growth and mental retardation. One out of 4000 babies are being born with it in the developed world. Due to the treatment being simplified and inexpensive and because its mandatory for all babies to be screened at birth and if positive she will be treated within a month, to prevent them from being mentally retarded.

However in Pakistan, the rate of incidence of CH is 1 out of 1000 newborn babies which accounts for four times the rate of the West. Sadly, there’s no way to diagnose the condition at birth, and those who are born with such condition have to live with it for the rest of their lives.

The ZB Foundation aims to conduct newborn screening (NBS) procedures for free in Pakistan so that all babies receive a screening test at birth to avoid late diagnosis of congenital disorders that leads to unnecessary economic, social and health burdens for the country – not to mention the emotional trauma that the family goes through after the discovery. Screening systems that are acquired via importation are expensive which the local hospitals with limited budgets do not prioritize while planning big scale diagnostic projects. The ZB Foundation have established a laboratory in Islamabad, where blood spot samples are being screened from different hospitals around Pakistan.

The ZB Foundation are aiming to raise awareness amongst local communities regarding such metabolic and congenital disorders so that screening and diagnosis can make the treatment of many affected lives. Our communities need to be fully aware of how simply it is to attain treatment when such conditions fall on them. Treatment given to the positive CH babies consists of a daily dose of thyroxine, available as a small tablet which taken will prevent growing up with defects and mental retardation.

The generic name is levothyroxine, and several brands are available. The tablet is crushed and given to the baby with a small amount of water or milk. The dose increases as the child grows. Most children born with congenital hypothyroidism who are rightly treated with thyroxine grow and develop normally.

The affiliation of Medlabs, Jordan, Nutricia, UK and Perkin Elmer, Finland with The ZBF has made it possible for us to conduct the NBS procedures in Pakistan. In the near future, ZBF looks forward to a nationwide screening program, saving all newborn babies from future handicapped mental state. Also and importantly, we are going to conduct more screening tests as the inherited metabolic disorders account for 31 core disorders and 26 secondary disorders that every newborn should be screened for, as in accordance with the U.S. Department of Health and Human Services.


For more information on Mental Retardation please visit:


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