Qatar’s Newborn Screening Programme (QNSP) has benefited some 205,832 babies since it was established in December 2003, according to experts at Hamad Medical Corporation (HMC)’s Women’s Hospital.
The programme has enabled early diagnosis of 642 babies with disorders, resulting in over 98% of the babies being 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.
Dr Hilal al-Rifai, director of QNSP and medical director of Women’s Hospital, highlighted the life-changing impact of the programme, saying it has helped many children 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% of the babies diagnosed are treated successfully,” said Dr al-Rifai.
He explained that many of the disorders can progress to serious illness very quickly even though the newborn may seem healthy at first. The programme currently screens for 32 disorders (two endocrine and 30 metabolic disorders) present at birth.
The majority of the disorders are autosomal recessive, which means both of the affected child’s parents are carriers of the gene that causes the disorder, and this is common in consanguineous marriages.
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, which 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.
Among the babies confirmed to have disorders, most or some 351 had nutritional vitamin B12 deficiency, which can cause many health problems, including anaemia 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.
Qatar has one of the highest incidences of homocystinuria due to the prevalence of consanguineous marriages in the region. The condition is slowly degenerative and is not usually apparent during the first few days of a baby’s life.