Findings supporting neonatal screening for sickle cell disease: an observational study in Senegal
IntroductionSickle cell disease (SCD) is a major contributor to morbidity and mortality in sub-Saharan Africa, and early detection through neonatal screening can improve outcomes. In Senegal, systematic screening is not yet implemented. This study describes two cohorts of children diagnosed with SCD...
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Frontiers Media S.A.
2025-05-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1578570/full |
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| author | Lucie Petigas Ndiogou Seck Ndiogou Seck Dominique Doupa Dominique Doupa Ibrahima Diagne Ibrahima Diagne Matthias Roth-Kleiner Matthias Roth-Kleiner |
| author_facet | Lucie Petigas Ndiogou Seck Ndiogou Seck Dominique Doupa Dominique Doupa Ibrahima Diagne Ibrahima Diagne Matthias Roth-Kleiner Matthias Roth-Kleiner |
| author_sort | Lucie Petigas |
| collection | DOAJ |
| description | IntroductionSickle cell disease (SCD) is a major contributor to morbidity and mortality in sub-Saharan Africa, and early detection through neonatal screening can improve outcomes. In Senegal, systematic screening is not yet implemented. This study describes two cohorts of children diagnosed with SCD: those identified through neonatal screening and those diagnosed clinically after presenting symptoms.MethodsThis retrospective study involved two cohorts of children diagnosed with SCD in St. Louis, Senegal, between 2010 and 2020—one through neonatal screening (A) and the other clinically (B). Epidemiological, clinical, and management data were analyzed.ResultsCohort A included 17,083 screened infants (74% screening rate), with 40 diagnosed at a mean age of 70.48 days, showing low complication rates and requiring less intensive treatment. Cohort B, with 39 clinically diagnosed children, had a mean diagnosis age of 21.9 months, with higher rates of hospitalizations, transfusions, and acute anemia. Vaccination and antibiotic prophylaxis were high in both cohorts.DiscussionNeonatal screening enables early diagnosis, reducing complications and enabling timely interventions, while children diagnosed after symptoms face more severe disease. Early genetic counseling and addressing consanguinity are key for better outcomes. Challenges such as limited funding, equipment, and trained personnel must be addressed for broader implementation.ConclusionNeonatal screening aligns with public health goals by reducing morbidity and mortality, and the long-term economic burden on families and healthcare systems. It is particularly relevant in the context of increasing global migration patterns, underscoring the need for such programs worldwide. |
| format | Article |
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| institution | DOAJ |
| issn | 2296-2360 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj-art-6d057f15a2864ffcbd75d1fe2b83d9692025-08-20T03:22:18ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-05-011310.3389/fped.2025.15785701578570Findings supporting neonatal screening for sickle cell disease: an observational study in SenegalLucie Petigas0Ndiogou Seck1Ndiogou Seck2Dominique Doupa3Dominique Doupa4Ibrahima Diagne5Ibrahima Diagne6Matthias Roth-Kleiner7Matthias Roth-Kleiner8Faculty of Biologyand Medicine, University of Lausanne, Lausanne, SwitzerlandCenter for Research and Ambulatory Management of Sickle Cell Disease (CERPAD), St. Louis, SenegalDepartment of Pediatrics, Faculty of Health Sciences, Gaston Berger University, Saint-Louis, SenegalCenter for Research and Ambulatory Management of Sickle Cell Disease (CERPAD), St. Louis, SenegalDirectory of the CERPAD Laboratory, St. Louis, SenegalDepartment of Pediatrics, Faculty of Health Sciences, Gaston Berger University, Saint-Louis, SenegalCenter for Research and Ambulatory Management of Sickle Cell Disease (CERPAD), St. Louis, SenegalFaculty of Biologyand Medicine, University of Lausanne, Lausanne, SwitzerlandMedical Directory, University Hospital of Lausanne (CHUV), Lausanne, SwitzerlandIntroductionSickle cell disease (SCD) is a major contributor to morbidity and mortality in sub-Saharan Africa, and early detection through neonatal screening can improve outcomes. In Senegal, systematic screening is not yet implemented. This study describes two cohorts of children diagnosed with SCD: those identified through neonatal screening and those diagnosed clinically after presenting symptoms.MethodsThis retrospective study involved two cohorts of children diagnosed with SCD in St. Louis, Senegal, between 2010 and 2020—one through neonatal screening (A) and the other clinically (B). Epidemiological, clinical, and management data were analyzed.ResultsCohort A included 17,083 screened infants (74% screening rate), with 40 diagnosed at a mean age of 70.48 days, showing low complication rates and requiring less intensive treatment. Cohort B, with 39 clinically diagnosed children, had a mean diagnosis age of 21.9 months, with higher rates of hospitalizations, transfusions, and acute anemia. Vaccination and antibiotic prophylaxis were high in both cohorts.DiscussionNeonatal screening enables early diagnosis, reducing complications and enabling timely interventions, while children diagnosed after symptoms face more severe disease. Early genetic counseling and addressing consanguinity are key for better outcomes. Challenges such as limited funding, equipment, and trained personnel must be addressed for broader implementation.ConclusionNeonatal screening aligns with public health goals by reducing morbidity and mortality, and the long-term economic burden on families and healthcare systems. It is particularly relevant in the context of increasing global migration patterns, underscoring the need for such programs worldwide.https://www.frontiersin.org/articles/10.3389/fped.2025.1578570/fullneonatal screeningsickle cell diseasehemolytic anemiaSenegalhealth disparities |
| spellingShingle | Lucie Petigas Ndiogou Seck Ndiogou Seck Dominique Doupa Dominique Doupa Ibrahima Diagne Ibrahima Diagne Matthias Roth-Kleiner Matthias Roth-Kleiner Findings supporting neonatal screening for sickle cell disease: an observational study in Senegal Frontiers in Pediatrics neonatal screening sickle cell disease hemolytic anemia Senegal health disparities |
| title | Findings supporting neonatal screening for sickle cell disease: an observational study in Senegal |
| title_full | Findings supporting neonatal screening for sickle cell disease: an observational study in Senegal |
| title_fullStr | Findings supporting neonatal screening for sickle cell disease: an observational study in Senegal |
| title_full_unstemmed | Findings supporting neonatal screening for sickle cell disease: an observational study in Senegal |
| title_short | Findings supporting neonatal screening for sickle cell disease: an observational study in Senegal |
| title_sort | findings supporting neonatal screening for sickle cell disease an observational study in senegal |
| topic | neonatal screening sickle cell disease hemolytic anemia Senegal health disparities |
| url | https://www.frontiersin.org/articles/10.3389/fped.2025.1578570/full |
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