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Newborn Screening for Six Primary Conditions in a Clinical Setting in Morocco
Sara El Janahi1, Mounir Filali2, Zakia Boudar1
1Laboratory of Genomic, Epigenetics, Precision and Predictive Medicine, School of Medicine, Mohammed VI University of Sciences and Health, Casablanca 82403, Morocco.
Insights
Newborn screening in Morocco successfully identified 72 newborns with serious conditions like hemoglobinopathies and G6PD deficiency. Integrating this public health measure into routine diagnostics is vital for improving infant health outcomes.
Area of Science:
- Medical Science
- Public Health
- Genetics
Background:
- Newborn screening (NBS) is crucial for early detection of congenital disorders.
- Morocco faces challenges in NBS implementation due to infrastructure limitations and high consanguinity rates.
- Early detection prevents disability and mortality from metabolic, endocrine, hematologic, immune, and cardiac conditions.
Purpose of the Study:
- To assess the feasibility of integrating NBS into routine diagnostic laboratory analysis in Morocco.
- To identify the prevalence of six severe congenital conditions in Moroccan newborns.
- To highlight the need for a national NBS program.
Main Methods:
- A retrospective study of 5511 newborn blood samples from Casablanca, Morocco.
- Samples collected via heel-prick within 3-6 days of birth.
- Analysis using quantitative immunofluorescence and isoelectric focusing for congenital hypothyroidism, cystic fibrosis, phenylketonuria, G6PD deficiency, congenital adrenal hyperplasia, and hemoglobinopathies.
Main Results:
- 72 out of 5511 newborns (1.3%) had one of the screened conditions.
- Hemoglobinopathies were most prevalent (47 cases, 0.9%), including HbC, HbS, and Hb Bart's carriers.
- Glucose-6-phosphate dehydrogenase deficiency affected 16 newborns (0.32%).
Conclusions:
- NBS programs are effective in preventing morbidity and mortality, improving neonates' quality of life.
- The study demonstrates the feasibility of integrating NBS into Moroccan diagnostic labs.
- Urgent integration of NBS into routine practice is needed to improve newborn health in Morocco.
Abstract:
Newborn screening (NBS) represents an important public health measure for the early detection of specified disorders; such screening can prevent disability and death, not only from metabolic disorders but also from endocrine, hematologic, immune, and cardiac disorders. Screening for critical congenital conditions affecting newborns' health is a great challenge, especially in developing countries such as Morocco, where NBS program infrastructure is lacking. In addition, the consanguinity rate is high in Morocco. This study aimed to demonstrate the feasibility of integrating NBS into a diagnostic laboratory for routine analysis. Six primary severe conditions were included: congenital hypothyroidism (CH), cystic fibrosis (CF), phenylketonuria (PKU), glucose-6-phosphate dehydrogenase deficiency (G6PD), congenital adrenal hyperplasia (CAH), and hemoglobinopathies.
Methods:
A retrospective investigation was carried out to examine the outcomes of NBS in Casablanca, Morocco. A total of 5511 newborn blood samples were collected via heel-prick sampling and tested for the above disorders. Most of the samples were collected within the third and sixth days of birth. The dried blood spots were analyzed via a quantitative immunofluorescence technique and isoelectric focusing.
Results:
A total of 72 newborns had one of the six pathological conditions. The most prevalent disorders were hemoglobinopathies, which were identified in 47 newborns (0.9%), with 29 having HbC carrier status (0.5%), 15 having Hb S carrier status (0.3%), and 3 having an Hb Bart's carrier profile (0.05%). This was followed by G6PD deficiency, which was found to affect 16 newborns (0.32% of cases). CF was found in one case (0.02%), whereas five newborns (0.09%) tested positive for CAH. Additionally, two newborns (0.04%) tested positive for CH, and one newborn tested positive for PKU (0.02%).
Conclusion:
Our findings underscore the importance and success of NBS programs in preventing morbidity and mortality and improving the quality of life of affected neonates. The significant gap in data and research on these disorders within the Moroccan population highlights the urgent need to integrate NBS into routine practice in diagnostic laboratories across Morocco. This integration is crucial for enhancing the health and well-being of Moroccan newborns.
