ArticleInternational journal of neonatal screening2025
Expanded Newborn Screening in Italy: The First Report of Lombardy Region.
Article in International journal of neonatal screening, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 3 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed.
- Extended Lombardy's Neonatal Screening Dataset.Scientific data · 2025Article
- Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Three New Cases Detected by Newborn Screening Confirming the Significance of C4OH Elevation.International journal of neonatal screening · 2025Article
- Correction: Berardo et al. Expanded Newborn Screening in Italy: The First Report of Lombardy Region.International journal of neonatal screening · 2025Article
Corrections and comments
- Erratum issued
Authors and funding
25 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNewborn screening (NBS) is a preventive healthcare program aiming at identifying the inborn errors of metabolism (IEMs) in asymptomatic infants to reduce the risk of severe complications. The aim of this study was to report the first years (2016-2020) of the expanded NBS program in the Lombardy region, Italy.
methodsDried blood spots were collected from newborns' heels at 48-72 h after birth. FIA-MS/MS was performed to evaluate specific biochemical markers. Genetic confirmation was achieved via Sanger or NGS on newborns and reported to a clinical reference center (CRC).
resultsA total of 343,507 newborns were tested; 1414/343,507 resulted as positive to NBS and were reported to the CRC. A total of 209 newborns were diagnosed with IEMs: 206 infants received a diagnosis of IEM through NBS, confirmed by genetic analysis; three neonates were not positive to NBS but were subsequentially diagnosed with IEMs. A total of 1208/343,507 were false positive cases. Twenty-seven types of IEMs were diagnosed in 209 patients: 111 newborns were affected by aminoacidemias, 11 by urea cycle disorders, 27 by organic acidemias, 34 by fatty acid oxidation disorders, and 26 by secondary conditions.
conclusionsWe report here for the first time the IEM incidence and distribution in the Lombardy region in the first five years of NBS.
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