ISLAMABAD: The Pakistan Institute of Medical Sciences (Pims) has initiated a programme to test newborn babies’ blood for genetic disorders with the help of an international non-governmental organisation, Zermerlow Bjorkman Foundation.

Doctors at Pims have hailed the programme as a big achievement and suggest every child born at the hospital should have their blood screened to ensure genetic disorders are treated in time.

Consultant Child Physician at the Children’s Hospital in Pims Prof Haider Shirazi said around 2 to 3cc of blood is collected for each test. He said blood for the test is collected from the heel of a child and that advanced screening is done through Tandem Mass Spectrometer (TMS) which is the most efficient method for newborn screening.

He said: “After pricking the heel of a newborn, just a few drops of blood are taken on four paper stripes. As many as 70 tests can be carried out with these samples. These stripes can also be saved for up to two years for tests in the future.”

Prof Shirazi said the most common problem in Pakistan was thyroid disorder. In other countries, on average one in 2,500 newborns is diagnosed with the disorder while in Pakistan, the numbers are much higher with the deficiency found in every 1 in 1,200 children

He said Pakistan did not have the facilities to carry out TMS tests and samples were usually sent to either Saudi Arabia or to India which cost around Rs25,000 per test.

He added, “The majority of patients in Pims are poor and it will be a great help for them to have TMS tests done here.”

Pediatrician Dr Hashim Raza said TMS testing helped detect disorders well before the brain and other major organs were affected.

He said: “Development of the brain stops because of thyroid deficiencies. Symptoms of thyroid disorders appear at nine months in a newborn by which time the brain’s growth is almost complete by 90pc.”

The pediatrician said it costs around Rs9 million to treat a child after nine months of age but if they are diagnosed in the first week after birth the disorder can be treated at the cost of just Rs100 per month.

He said: “Babies with thyroid disorders often cannot digest some proteins and they have to be prescribed special milk or protein digesting enzymes are given to them. TMS helps us identify cases where this is necessary. Also parents can be guided in planning for their next child according to the genetic disorder.”

Dr Raza said the biggest cause of genetic disorders was cousin marriages.

Director of the Children’s Hospital at Pims Dr Amjad Mehmood said the tests were a good initiative and the management will try to start them in the rest of Pakistan as well.

He said the hospital has also started a bone marrow transplant centre with support from an Italian NGO.

Director Children Hospital Dr Amjad Mehmood said it was a good initiative and the management would try to make arrangements to start tests in Pakistan.

Published in Dawn, September 24th , 2015

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