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Dr Hilal Al Rifai
DOHA: The Newborn Screening Unit at the Hamad Medical Corporation (HMC) has screened a total of 133,331 babies since its inception in 2003 and detected metabolic and endocrine disorders in 182 newborns, HMC said yesterday.
Of these, 28 babies were confirmed as having homocystinuria- an inherited disease that occurs due to consanguineous marriages, which are common in this part of the world.
Ghassan Abdoh, Head of the Unit, citing figures until the end of August, said 72 babies had been detected with endocrine diseases and 110 with metabolic disorders, during the screening.
“The aim of newborn screening is to detect and diagnose a baby with a serious disease before it becomes symptomatic and starts to damage the baby. Early diagnosis and treatment is essential to help avoid serious lifelong disability,” said Abdoh addressing a HMC workshop for neonatologists and neonatal nurses.
“We now screen for 32 diseases, including sickle cell disease, a blood disease which can be fatal to babies. We added an innovative, state-of-the-art test for homocystinuria in 2005, and through this test were able to diagnose 28 babies with homocystinuria,” Dr Hilal Al Rifai, Medical Director of HMC’s Women’s Hospital said on the sidelines of the workshop.
The Supreme Council of Health has since required couples in Qatar, where there is one of the highest incidences of consanguineous marriages, to undergo premarital screening and counseling, he added. “Through newborn screening, we have also identified diseases that we did not think even existed. We were able to save about 15 babies with medium-chain acyl-CoA dehydrogenase or MCAD deficiency, a condition that prevents the body from converting certain fats in food to energy,” said Al Rifai.
“The early identification of disorders has allowed for early intervention and treatment. Consequently, we have seen a treatment success rate in sick babies of over 98 percent. Less than two percent did not have good outcomes due to other major birth defects,” he added.
Tests under the newborn screening programme were initially done at the University Children’s Hospital in Heidelberg, Germany, have now been performed in Doha since October 2009. Efforts are underway to transfer the rest of the technology from Heidelberg to Doha by 2013. A test for immunodeficiency will be added by early 2013, said the official.
“The programme has developed so much and we are almost self-sufficient now, with Heidelberg only there to provide a back-up to verify results for some metabolic disorders. Besides providing for the treatment, we have appointed counselors to work with parents following diagnosis of a disorder in their child,” said Al Rifai.
“We have also established the Qatar Genetics Center for research into the genes that influence inborn errors of metabolism. We are very active in this area of state-of-the-art research and have been published in international journals.”