
DOHA: About 205,832 babies have benefited from Qatar’s Newborn Screening Program since it was launched in December 2003, according to experts at Hamad Medical Corporation’s (HMC) Women’s Hospital.
The programme has enabled early diagnosis of 642 babies with disorders. Over 98 percent of the babies have been successfully treated for potentially fatal or disabling conditions that often do not show visible symptoms during the first few days of a baby’s life.
Among the babies confirmed to have disorders, some 351 had nutritional vitamin B12 deficiency, which can cause many health problems including anemia and nerve damage. Screening has also enabled the diagnosis of 89 babies with congenital hypothyroidism, where there is a deficiency in the production of thyroxine, a hormone that is needed for the normal growth of the brain and the body. Since 2005 when testing for an inherited disorder — homocystinuria — was added to the programme, 39 babies among the Qatari population have been found to have this disorder, which keeps the body from processing certain amino acids, building blocks of proteins essential to the body’s survival and functioning. Qatar has one of the highest incidences of homocystinuria due to the prevalence of consanguineous (close blood) marriages in the region. The condition is slowly degenerative and is not usually apparent during the first few days of a baby’s life.
Dr Hilal Al Rifai, Director of the Qatar Newborn Screening Program and Medical Director of Women’s Hospital, highlighted the life-changing impact of the programme, saying it has helped many children to avoid serious disability and death and allowed them to have healthy, fulfilling lives. “The concept behind newborn screening is to identify a disorder in a newborn baby before it manifests as a disease. This allows us to start treatment before the disorder can progress and cause irreversible damage to the baby. Because of this early intervention, over 98 percent of the babies diagnosed are treated successfully.”
The programme has three pillars: the Newborn Screening Unit based at Women’s Hospital, which works with the family’s main healthcare team to arrange for screening and follows up on the results; the dedicated laboratories, including the main laboratory at HMC’s Rumailah Hospital and the one at University Children’s Hospital in Heidelberg, Germany, that provides a back-up to verify results for some disorders; and the paediatric management team that works with families following the confirmation of diagnosis of a disorder in their child, which often requires long-term treatment.
Screening and treatment for the disorders can be very expensive, but are provided free of charge by the State of Qatar to all babies born in the country. The screening is usually done during the first 36 hours after a baby is born, and is available at all HMC hospitals with birth facilities.
The Peninsula