Newborn Screening Enables Early Diagnoses of Infant Disorders
Since the start of its implementation in 2003, the Qatar Newborn Screening Programme (QNSP) has enabled the early diagnoses of over 850 babies born with various diseases and disorders. To date, the newborn heel prick test, which is generally administered within 72 hours of a baby’s birth, has been administered to over 265,000 newborns across the country.
Dr Hilal Al Rifai, Director of QNSP and Medical Director of the Women’s Wellness and Research Centre, said the newborn screening programme plays an often lifesaving role in detecting and treating serious illnesses that would otherwise go undiagnosed or have delayed diagnoses. He said that the number of diseases and disorders diagnosed to date, demonstrates the importance of parents consenting to newborn screening.
The Newborn Screening Programme allows us to start treatment before a disease or disorder progresses. The programme, which offers free disease screening for all children born in Qatar, currently screens for more than 30 disorders, most of which are autosomal recessive, meaning both baby’s parents are carriers of the gene that causes the disorder. It allows us to detect disorders, including those among babies that may seem healthy at first, before they progress to serious illness. This is significant as many newborn babies may initially appear healthy.’
According to Dr Ghassan Abdoh, Senior Consultant of Paediatric Neonatology and Head of the Newborn Screening Unit at Hamad Medical Corporation (HMC), a disease diagnosis can be overwhelming at any age, but the diagnosis is particularly difficult when the patient is a newborn. He says his team is committed to educating parents about the importance of the screening and what a positive result would mean for their family.
It can be an overwhelming experience for many parents because the need for treatment is almost always immediate; there is often no time to address the emotional side of the diagnosis as we often need to move directly to treating the condition. The screening, which quickly identifies specific conditions and disorders that are not apparent at birth, has resulted in over 98% of babies being successfully treated for potentially fatal and disabling conditions.’
The Newborn Screening Programme is divided into three components: the Newborn Screening Unit, which works with maternity units and primary healthcare teams to coordinate testing and follow up of results; the specialised laboratory that conducts the testing; and the teams that provide treatment to affected babies, both short- and long-term.
Dr Al Rifai said that the newborn screening programme is going beyond diagnoses and treatment and is actively conducting research and introducing the latest evidence-based treatment protocols. The programme has introduced genomic technology through its partnership with the University of Heidelberg Hospital in Germany, noting that through more advanced technology, it may be possible to identify even more infants for whom early interventions can prevent serious illnesses or disability.
For more information and updates on offer at any of Qatar’s public healthcare facility, visit the HMC website at hamad.qa.