Majid Alfadhel1,2,3, Ali Al Othaim2,3,4, Saif Al Saif1,2,3, Fuad Al Mutairi1,2,3, Moeenaldeen Alsayed5, Zuhair Rahbeeni5, Hamad Alzaidan5, Mohammed Alowain5, Zuhair Al-Hassnan5,6, Mohamad Saeedi7, Saeed Aljohery7, Ali Alasmari8, Eissa Faqeih8, Mansour Alwakeel9, Maher AlMashary9, Sulaiman Almohameed9, Mohammed Alzahrani10, Abeer Migdad10, Osama Y Al-Dirbashi11,12, Mohamed Rashed13, Mohamed Alamoudi14, Minnie Jacob14, Lujane Alahaidib14, Fahd El-Badaoui14, Amal Saadallah14, Ayman Alsulaiman14, Wafaa Eyaid1,2,3, Ali Al-Odaib14,15. 1. Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia. 2. King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia. 3. Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia. 4. Department of Pathology, King Abdulaziz Medical City, Riyadh, Saudi Arabia. 5. Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. 6. The National Newborn Screening Program, Ministry of Health, Riyadh, Saudi Arabia. 7. Noncommunicable Disease, Ministry of Health, Riyadh, Saudi Arabia. 8. Medical Genetic Section, King Fahad Medical City, Children's Hospital, Riyadh, Saudi Arabia. 9. Armed Forces Medical Services Directorate, Riyadh, Saudi Arabia. 10. Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia. 11. Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, UAE. 12. Children Hospital of Eastern Ontario Research Institute, Ottawa, Canada. 13. Pharmagene Lab, Cairo, Egypt. 14. Research Center, Ministry of Health, Riyadh, Saudi Arabia. 15. King Salman Center for Disability Research, Riyadh, Saudi Arabia.
Abstract
AIM: To address the implementation of the National Newborn Screening Program (NBS) in Saudi Arabia and stratify the incidence of the screened disorders. METHODS: A retrospective study conducted between 1 August 2005 and 31 December 2012, total of 775 000 newborns were screened from 139 hospitals distributed among all regions of Saudi Arabia. The NBS Program screens for 16 disorders from a selective list of inborn errors of metabolism (IEM) and endocrine disorders. Heel prick dry blood spot samples were obtained from all newborns for biochemical and immunoassay testing. Recall screening testing was performed for Initial positive results and confirmed by specific biochemical assays. RESULTS: A total of 743 cases were identified giving an overall incidence of 1:1043. Frequently detected disorders nationwide were congenital hypothyroidism and congenital adrenal hyperplasia with an incidence of 1:7175 and 1:7908 correspondingly. The highest incidence among the IEM was propionic acidaemia with an incidence rate of 1:14 000. CONCLUSION: The article highlights the experience of the NBS Program in Saudi Arabia and providing data on specific regional incidences of all the screened disorders included in the programme; and showed that the incidence of these disorders is one of the highest reported so far world-wide.
AIM: To address the implementation of the National Newborn Screening Program (NBS) in Saudi Arabia and stratify the incidence of the screened disorders. METHODS: A retrospective study conducted between 1 August 2005 and 31 December 2012, total of 775 000 newborns were screened from 139 hospitals distributed among all regions of Saudi Arabia. The NBS Program screens for 16 disorders from a selective list of inborn errors of metabolism (IEM) and endocrine disorders. Heel prick dry blood spot samples were obtained from all newborns for biochemical and immunoassay testing. Recall screening testing was performed for Initial positive results and confirmed by specific biochemical assays. RESULTS: A total of 743 cases were identified giving an overall incidence of 1:1043. Frequently detected disorders nationwide were congenital hypothyroidism and congenital adrenal hyperplasia with an incidence of 1:7175 and 1:7908 correspondingly. The highest incidence among the IEM was propionic acidaemia with an incidence rate of 1:14 000. CONCLUSION: The article highlights the experience of the NBS Program in Saudi Arabia and providing data on specific regional incidences of all the screened disorders included in the programme; and showed that the incidence of these disorders is one of the highest reported so far world-wide.
Authors: Nasser A Elhawary; Imad A AlJahdali; Iman S Abumansour; Ezzeldin N Elhawary; Nagwa Gaboon; Mohammed Dandini; Abdulelah Madkhali; Wafaa Alosaimi; Abdulmajeed Alzahrani; Fawzia Aljohani; Ehab M Melibary; Osama A Kensara Journal: Hum Genomics Date: 2022-07-19 Impact factor: 6.481