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Published on: August 25, 2014
A retrospective cross-sectional study on newborn screening and prevalence of disorders among UAE population
Khadija Shafique1, Afsheen Raza2,3, Ariba Naushad2
1Department of Genetics and Genomics, UAE University (UAEU), Al Ain, United Arab Emirates.
Insights
Newborn screening in the UAE found high rates of G6PD deficiency and other metabolic disorders. This highlights the need for ongoing monitoring and genetic counseling to improve infant health outcomes.
Area of Science:
- Medical Genetics
- Public Health
- Neonatology
Background:
- Newborn screening (NBS) is vital for early detection of congenital disorders in infants.
- Early diagnosis through NBS allows for timely interventions, significantly reducing infant morbidity and mortality.
Purpose of the Study:
- To determine the prevalence of common disorders identified through newborn screening in the United Arab Emirates (UAE) population.
- To analyze screening data from 2021 to 2023 to understand the burden of specific congenital diseases.
Main Methods:
- A retrospective cross-sectional study analyzed NBS data from the National Reference Laboratory (NRL) in the UAE.
- Screening included tests for hemoglobinopathies, metabolic disorders (aminoacidopathies, acylcarnitine disorders, G6PD deficiency, biotinidase deficiency, GALT deficiency), cystic fibrosis, congenital hypothyroidism (CH), and congenital adrenal hyperplasia (CAH).
- Prevalence was calculated per 100,000 newborns, excluding inconclusive and false-positive results.
Main Results:
- Out of 29,290 screened newborns, 7.4% tested positive for one or more disorders, and 2.3% were carriers of hemoglobinopathies.
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency showed the highest prevalence (5,278 per 100,000), followed by cystic fibrosis (566 per 100,000), acylcarnitine disorders (518 per 100,000), and aminoacidopathies (505 per 100,000).
- Common inherited blood disorders included alpha-thalassemia and sickle cell anemia. Endocrine disorders like CAH (160 per 100,000) and CH (116 per 100,000) were also identified.
Conclusions:
- The study reveals a substantial prevalence of G6PD deficiency and other metabolic disorders among newborns in the UAE.
- Findings emphasize the importance of continuous NBS monitoring and expanded screening panels.
- Genetic counseling for carrier detection is crucial for improving neonatal outcomes and informing public health strategies.
Background:
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.
Objective:
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.
Methods:
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.
Results:
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.
Conclusion:
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.
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