DOHA EXPERTS from Hamad Medical Corporation (HMC) highlighted the success and importance of Qatar’s newborn screening programme at a recent workshop for neonatologists and neonatal nurses.
Medical Director of HMC’s Women’s Hospital, Dr Hilal al Rifai, said, “We started the newborn screening programme in December 2003 and we are continuously building on this programme.” “The unique thing about the programme is that it is universal and offers screening for all babies born in the country regardless of nationality.
The service is also provided free of charge, which is a very generous gesture from Qatar,” he added.
“We are now screening for 32 diseases, including sickle cell anemia, a blood disease which can be fatal to babies. We added an innovative, stateof- the-art test for homocystinuria in 2005, which made it possible to diagnose 28 babies with homocystinuria – an inherited disease that occurs due to marriages among blood relations, common in this part of the world.”
The Supreme Council of Health has made it mandatory for couples, where consanguineous marriage is one of the highest incidences in the country, to undergo premarital screening and counselling.
“Through newborn screening, we have also identified diseases that we did not think even existed. We were able to save about 15 babies diagnosed with medium-chain acyl-CoA dehydrogenase or MCAD deficiency, a condition that prevents the body from converting certain fats in food to energy,” Dr al Rifai said.
“The early identification of disorders has allowed quick intervention and treatment. Consequently, we have seen a treatment success rate among sick babies of over 98 percent. Less than two percent did not have good outcomes due to other major birth defects.”
Tests under the newborn screening programme were initially done at the University Children’s Hospital in Heidelberg, Germany but have 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.
“The program has developed so much that we are now almost self-sufficient, with Heidelberg only there to provide a back-up to verify results for some metabolic disorders. Besides providing for the treatment, we have appointed counsellors to work with parents following diagnosis of a disorder in their child,” said Dr 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 research and have had our findings published in international journals.” Dr Ghassan Abdoh, Head of the Newborn Screening Unit at HMC said, “By the end of August 2012, we had screened 133,331 babies and detected metabolic and endocrine disorders in 182 of them. Seventytwo babies had endocrine diseases and 110 had metabolic disorders. Of those 110, 28 babies were confirmed as having homocystinuria.”
In his lecture, Dr Abdoh traced the history of newborn screening from the creation of the phenylketonuria newborn screening test by American microbiologist Dr Robert Guthrie, a chief advocate for the establishment of newborn screening programmes in the US and many other countries. “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.”
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