How newborn screening identifies rare diseases and addresses them in UAE
National Reference Laboratory pathologist explains why parents must opt for the process
Abu Dhabi: Welcoming a new baby beings much joy to parents. At the same time, it can also be an anxious time as the baby’s well-being is of utmost concern. Newborn screening (NBS) under the circumstances can bring much relief to a family to help ensure a healthy start for the baby.
Deemed a vital preventative measure, NBS, which offers early detection and intervention for potential health issues, has emerged as a best practice today.
Dr. Shereen Atef - Clinical Pathologist Consultant at National Reference Laboratory (NRL), part of the M42 group, said cutting-edge technologies tare employed to unveil future trends that promise to redefine newborn screening.
For parents, NBS is more than just a medical procedure – it brings peace of mind. Finding and treating certain health problems right after birth can prevent serious issues later. While not every problem can be treated, early detection through screening gives babies and parents a better chance to prepare for any situation with the right care.
As Dr. Atef says, “NBS can change a family’s life. Early diagnosis and the beginning of treatment for any developing conditions offer a chance to rectify the prevalence of serious conditions. The early discovery of congenital metabolic disorders soon after birth can help prevent serious problems, such as brain or organ damage, intellectual disability and even death.”
NRL offers a comprehensive testing solution by providing the whole testing spectrum through advanced technology in the field of laboratory medicine. It plays a pivotal role in the early identification of rare diseases such as cystic fibrosis and amino acids disorders, which might not manifest until later in life. This proactive approach not only brings comfort to parents but also secures a healthier future for their children.
Since its inception in 1961, NBS has undergone significant advancements.
Dr Atef says NRL has been a leader in integrating state-of-the-art technologies such as tandem mass spectrometry (MS/MS) – a powerful tool used by scientists to identify the specific types of molecules in a sample and high-performance liquid chromatography (HPLC), which is a method used by scientists to separate and analyse different components in a liquid mixture. These innovations improve early detection capabilities for a spectrum of diseases and providing a comprehensive testing solution that utilises cutting-edge laboratory medicine technologies.
Dr. Atef, who plays a vital role in local efforts by the UAE government in the field of NBS, collaborates closely with the Ministry of Health and Prevention, Dubai Health Authority and the Department of Health – Abu Dhabi to set standards for NBS in the UAE.
“Research is crucial for the development and implementation of newborn screening. We are working closely with research organisations in the country to help with data collection, analysis and follow-up of positive cases,” she says.
“NRL’s contribution extends beyond UAE borders, we’re part of setting rules for screening in the Middle East and Gulf Region. By teaming up with governments and health organisations, we’re making sure children everywhere have a brighter, healthier future. Before NRL started newborn screening in their labs, parents had to wait from seven to 10 days for results. Now, it only takes 48 hours, to give parents quick and reliable information about their baby’s health,” says Dr. Atef.
Challenges in newborn screening, such as a shortage of specialists and time-sensitive specimen collection, have not deterred NRL, she says. NRL addresses these issues proactively with a dedicated team of experts and an efficient transportation network.
The future of NBS looks promising with advancements in multiplex formats using tandem mass spectrometry and evolving therapies such as gene therapy. Overcoming knowledge gaps and addressing challenges in emerging therapies will be crucial for the success of NBS programmes, Dr Atef adds.