Doha, 20 December 2023: Hundreds of thousands of babies have been screened for metabolic and endocrine disorders under the Qatar Newborn Screening Program, which is celebrating its 20 years of successful screening of all newborns for metabolic and endocrine diseases that could cause growth failure, delayed learning, and permanent intellectual disabilities.
428,881 babies have been screened since the inception of newborn screening program in 2003. Babies found with endocrine or congenital diseases have been successfully managed with most of the children leading a healthy life. The number of disorders being screened for have increased over the years and have reached 72.
“Newborn screening is the most successful preventive healthcare program in Qatar, and we are very proud of our achievement so far in this past 20 years. Under the newborn screening, babies are screened within 36 to 72 hours after birth for vision, hearing, metabolic and endocrine diseases. The heel prick test to collect blood samples from the newborn’s foot allows treatment before a disease or disorder progresses. So, early treatment of newborn diseases could prevent death, mental retardation, or physical disability,” explained Dr. Hilal Amin Al Rifai, CEO and Medical Director of HMC’s Women’s Wellness and Research Center and Director of Qatar Newborn Screening Program.
Dr. Al Rifai explained that the birth of a new baby is life changing so much so is the newborn screening as it identifies and detects serious treatable health disorders that do not show signs and symptoms at birth that can affect a child’s long-term health or survival. “Early detection, diagnosis and intervention can prevent death or disability and enable children to reach their full potential, he said adding that since its inception 20 years ago, over 428,000 babies were screened with great success and there were good outcomes in the management of those found with disorders,” he stated.
According to him, over the years under the program, several workshops, conferences, and scientific meetings attended by international delegates and from the Middle East have been organized and that the program is internationally known with its world class research publications.
Dr. Mamatha Ramaswamy, Senior Consultant from the Department of Laboratory Medicine and Pathology and Dr. Osama Al Dirbashi, Senior. Consultant and Clinical Scientist, Department of Laboratory Medicine and Pathology, under the current leadership of Dr. Einas Al Kuwari, said HMC Metabolic Laboratory is internationally recognized, and is equipped with state-of-the-art technology with highly skilled personnel.
“The laboratory works closely with Newborn Screening Unit and specialty clinicians. Expansion continued over the years to include core conditions such as homocystinuria and hemoglobinopathies. As diagnostic testing is crucial for the success of the Newborn Screening service, several highly complex assays were developed in-house for confirmation, diagnosis and monitoring of patients with inborn errors of metabolism. The Metabolic Laboratory continues to expand to include esoteric tests,” they noted.
Dr. Tawfeg Ben Omran, Senior Consultant, Department of Medical Genetics and the Lead of the Metabolic Treatment team including Dr. Noora Shahbeck and Dr. Rehab Ali Abdulrahman, said the team is providing a comprehensive state-of-the-art management to all newborns identified through the newborn screening program as well as offering regular follow up and genetic counseling to the families including future reproductive plans. In addition, it also provides continuous education to the families both at the time of the initial diagnosis and beyond, he said.
Dr. Ghassan Abdoh, Head of the Newborn Screening Unit (NSU) said the unit provides teaching materials and workflow charts, guidelines and protocols, training and retraining to all the staff involved in HMC and private hospitals.
According to him, the NSU monitors staff performance and compliance with screening and is also responsible for:
- Interpretation of screen positive reports and recalling newborns with screen positive lab reports for clinical evaluation, parents counseling, retesting and confirmatory testing, and management initiation.
- Applying quality improvement measures by setting and following indicators of performance (coverage rate, rejected samples rate, no show rate etc.)
- Organizing scientific meetings and training workshops locally, regionally and internationally
- Conducting relevant research projects
- Program promotion: This includes adding (or removing) new disorders to the screening panel to be in line with the international benchmarks and screening panels and introducing new modalities of screening like genetic screening through collaboration with other facilities involved in the screening program in Qatar including HMC screening laboratory, Qatar Biobank, Sidra Medicine, Qatar Metabolic Genetic Center and in Germany - Heidelberg University’s Children Hospital Metabolic Genetic Department and Newborn Screening Center.
“While most babies look healthy, there are some medical conditions that are not visible. It was for this reason that we established the newborn screening program for the country. Babies born with endocrine or congenital diseases look healthy and normal at birth but over time if not treated, they can develop growth failure, have delayed learning and permanent intellectual disabilities. Babies who receive treatment after the test and follow up their appointments grow up well and healthy,” added Dr. Hilal.
