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Expanded Newborn Screening in Italy: The First Report of Lombardy Region

Clarissa Berardo1,2, Alessandra Vasco2, Alessia Mauri1,2

  • 1Pediatric Research Center "Romeo ed Enrica Invernizzi", Department of Biomedical and Clinical Sciences, University of Milan, 20157 Milan, Italy.

International Journal of Neonatal Screening
|May 23, 2025
PubMed

Insights

This study reports the incidence and distribution of inborn errors of metabolism (IEMs) identified through expanded newborn screening (NBS) in Italy's Lombardy region. The findings provide crucial data on IEM prevalence in this population.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Newborn screening (NBS) is vital for early detection of inborn errors of metabolism (IEMs) in asymptomatic infants.
  • Early identification of IEMs reduces the risk of severe, long-term health complications.
  • This study focuses on the initial years of an expanded NBS program in Lombardy, Italy.

Purpose of the Study:

  • To report the incidence and distribution of IEMs in the Lombardy region.
  • To evaluate the effectiveness of the expanded NBS program from 2016-2020.
  • To establish baseline data for IEM prevalence in a large newborn population.

Main Methods:

  • Dried blood spots collected from 343,507 newborns (48-72 hours post-birth).
  • FIA-MS/MS analysis for biochemical markers.
  • Genetic confirmation (Sanger or NGS) and reporting to a clinical reference center.

Main Results:

  • 209 newborns diagnosed with IEMs out of 343,507 screened.
  • 1208 false positive cases identified.
  • Twenty-seven types of IEMs detected, including aminoacidemias, urea cycle disorders, organic acidemias, and fatty acid oxidation disorders.

Conclusions:

  • This is the first report on IEM incidence and distribution in Lombardy using expanded NBS.
  • The findings highlight the importance of continued NBS for early IEM diagnosis.
  • Data provides a foundation for regional public health strategies concerning IEMs.
Abstract

Keywords:
aminoacidemias (AAs)fatty acid oxidation disorders (FAODs)inborn errors of metabolism (IEMs)mass spectrometry (MS)newborn screening (NBS)organic acidemias (OAs)rare diseasesurea cycle defects (UCDs)

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