Neonatal Screening (NS) is a mandatory secondary prevention program established in the 1960s to detect rare genetic disorders in newborns. Early diagnosis through NS enables timely interventions, helping to prevent severe health complications. Despite its long-standing implementation, there remains a scarcity of publicly available datasets to support medical research and academic analysis. In this work, we present a comprehensive dataset containing blood samples and associated information from nearly a decade of Neonatal Screening in Lombardy. This dataset offers valuable insights for medical studies on genetic disorders, early diagnostics, and treatment efficacy. Additionally, it can support academic research in data-driven healthcare analysis and policy development. By making this dataset publicly available, we aim to enhance research opportunities in neonatal health and contribute to the improvement of early intervention strategies.

Extended Lombardy’s Neonatal Screening Dataset / G. Lopiano, L. Alberti, C. Cereda, F. Cabitza. - In: SCIENTIFIC DATA. - ISSN 2052-4463. - (2025). [Epub ahead of print] [10.1038/s41597-025-06389-4]

Extended Lombardy’s Neonatal Screening Dataset

C. Cereda
Penultimo
;
2025

Abstract

Neonatal Screening (NS) is a mandatory secondary prevention program established in the 1960s to detect rare genetic disorders in newborns. Early diagnosis through NS enables timely interventions, helping to prevent severe health complications. Despite its long-standing implementation, there remains a scarcity of publicly available datasets to support medical research and academic analysis. In this work, we present a comprehensive dataset containing blood samples and associated information from nearly a decade of Neonatal Screening in Lombardy. This dataset offers valuable insights for medical studies on genetic disorders, early diagnostics, and treatment efficacy. Additionally, it can support academic research in data-driven healthcare analysis and policy development. By making this dataset publicly available, we aim to enhance research opportunities in neonatal health and contribute to the improvement of early intervention strategies.
Settore MEDS-01/A - Genetica medica
2025
10-dic-2025
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/1204984
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