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Comprehensive newborn screening program: ARAMCO experience, the national need and recommendations
Y K Abu-Osba1, A Mallouh, M Salamah
1Departments of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, and Department of Pediatrics and Pathology, Dhahran Health Center, Dhahran, Saudi Arabia.
Insights
A newborn screening program for congenital diseases was established, successfully screening over 70,000 infants. This initiative provides valuable data and demonstrates the feasibility of a national newborn screening program in Saudi Arabia.
Area of Science:
- Medical Genetics
- Neonatal Health
- Public Health Policy
Background:
- Comprehensive national or regional newborn screening programs for congenital diseases are currently lacking.
- The ARAMCO Dhahran Health Center established a tailored newborn screening program to address this gap.
- The program was designed considering available resources and specific regional needs.
Purpose of the Study:
- To describe the organization and procedures of a comprehensive newborn screening program.
- To report on the implementation and outcomes of a newborn screening program established in 1980.
- To assess the feasibility and necessity of a national newborn screening program in Saudi Arabia.
Main Methods:
- Implementation of a multi-disease screening protocol for newborns.
- Screening included congenital hypothyroidism, phenylketonuria, abnormal hemoglobins, glucose-6-phosphate dehydrogenase deficiency, and blood group incompatibilities.
- Program modifications were made based on operational challenges encountered.
Main Results:
- Over 70,000 newborn infants have been screened since the program's inception in 1980.
- Valuable epidemiological data relevant to congenital diseases in the region were collected.
- Essential clinical information for direct patient care was obtained.
Conclusions:
- The ARAMCO newborn screening program has successfully operated for decades, collecting significant data.
- The experience highlights the achievability and urgent need for a national screening program in Saudi Arabia.
- Recommendations for establishing a national program are provided based on ARAMCO's operational experience.
Abstract:
Comprehensive screening programs for congenital diseases of newborn infants are lacking at a national or regional level. A comprehensive newborn screening program modified to the needs and resources available was established in ARAMCO Dhahran Health Center. This program includes screening for congenital hypothyroidism, phenylketonuria, abnormal hemoglobins, glucose-6-phosphate dehydrogenase deficienc, and blood group incompatibilities. Several problems were encountered during the operation which required several modifications of the program. The organization and procedures of the program are described. Since the program was started in 1980, more than 70,000 newborn infants have been screened. Valuable epidemiological data have been collected and necessary information for direct clinical use was obtained. A national program to screen all neonates in the Kingdom of Saudi Arabia is achievable and urgently needed. Recommendations based on ARAMCO experience are given.
