A retrospective cross-sectional study on newborn screening and prevalence of disorders among UAE population.

Newborn screening (NBS) is a crucial public health initiative designed to detect genetic, metabolic, and endocrine disorders in infants before clinical symptoms appear. Early detection enables timely intervention, reducing morbidity and mortality associated with congenital diseases. This study aimed to determine the prevalence of common disorders detected through newborn screening among the United Arab Emirates (UAE) population from year 2021 to 2023. A retrospective cross-sectional study was conducted using newborn screening data collected from the National Reference Laboratory (NRL), representing samples from 20 hospitals and laboratories across Abu Dhabi, Dubai, Sharjah, and Fujairah. Screening tests included hemoglobinopathies, aminoacidopathies, acylcarnitine disorders, cystic fibrosis, glucose-6-phosphate dehydrogenase (G6PD) deficiency, congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), biotinidase deficiency, and galactose-1-phosphate uridylyltransferase (GALT) deficiency. Prevalence was calculated per 100,000 screened newborns using SPSS, excluding inconclusive and false-positive cases. Of 29,290 newborns screened, 2,191 (7.4%) were positive for one or more disorders, and 698 (2.3%) were identified as hemoglobinopathy carriers. The highest prevalence was observed for G6PD deficiency (5,278 per 100,000 screened newborns), followed by cystic fibrosis (566 per 100,000 screened newborns), acylcarnitine disorders (518 per 100,000 screened newborns), and aminoacidopathies (505 per 100,000 screened newborns). Endocrine disorders, including CAH (160 per 100,000 screened newborns) and CH (116 per 100,000 screened newborns), were also detected. Hemoglobinopathies, particularly alpha-thalassemia and sickle cell anemia, represented the most common inherited blood disorders. The findings highlight a significant burden of G6PD deficiency and other metabolic disorders among newborns in the UAE. The study underscores the importance of continuous monitoring, expanded screening panels, and genetic counseling for carrier detection to improve neonatal outcomes and guide public health strategies.