Next Article in Journal
An Explorative Qualitative Study of the Role of a Genetic Counsellor to Parents Receiving a Diagnosis After a Positive Newborn Bloodspot Screening
Previous Article in Journal
Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program
 
 
Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
Journals
IJNS
Volume 11
Issue 2
10.3390/ijns11020031
IJNS-logo
Submit to this Journal Review for this Journal Propose a Special Issue
► Article Menu

Article Menu

share Share announcement Help format_quote Cite question_answer Discuss in SciProfiles
Correction published on 22 July 2025, see Int. J. Neonatal Screen. 2025, 11(3), 57.
first_page
settings
Order Article Reprints
Font Type:
Arial Georgia Verdana
Font Size:
Aa Aa Aa
Line Spacing:
Column Width:
Background:
Article

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

by
Clarissa Berardo
1,2,†,
Alessandra Vasco
2,†,
Alessia Mauri
1,2,†,
Simona Lucchi
2,
Laura Cappelletti
2,
Laura Saielli
2,
Manuela Rizzetto
2,
Davide Biganzoli
2,
Cristina Montrasio
2,
Diana Postorivo
2,
Michela Perrone Donnorso
2,‡,
Elisa Pratiffi
2,
Andrea Meta
2,
Stephana Carelli
1,2,
Alessandro Amorosi
3,
Sabrina Paci
4,
Graziella Cefalo
4,
Francesca Furlan
5,
Francesca Menni
5,
Serena Gasperini
6,
Viola Crescitelli
6,
Giuseppe Banderali
4,
Gianvincenzo Zuccotti
1,7,
Luisella Alberti
2 and
Cristina Cereda
2,*add Show full author list remove Hide full author list
1
Pediatric Research Center “Romeo ed Enrica Invernizzi”, Department of Biomedical and Clinical Sciences, University of Milan, 20157 Milan, Italy
2
Center of Functional Genomics and Rare Diseases, Department of Pediatrics, Buzzi Children’s Hospital, 20154 Milan, Italy
3
Welfare General Directorate, Regione Lombardia, Palazzo Lombardia, Piazza Città di Lombardia, 1, 20124 Milan, Italy
4
Clinical Department of Pediatrics, ASST Santi Paolo e Carlo Hospital, University of Milan, 20142 Milan, Italy
5
Pediatric Intensive Care Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy
6
Pediatric Rare Diseases Unit, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy
7
Department of Pediatrics, Buzzi Children’s Hospital, 20154 Milan, Italy
*
Author to whom correspondence should be addressed.
†
These authors contributed equally to this work.
‡
Current Address: Pediatric Clinic, Endocrinology, Laboratory for the Study of Inborn Errors of Metabolism, Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, 16100 Genova, Italy.
Int. J. Neonatal Screen. 2025, 11(2), 31; https://doi.org/10.3390/ijns11020031
Submission received: 4 February 2025 / Revised: 28 March 2025 / Accepted: 23 April 2025 / Published: 25 April 2025 / Corrected: 22 July 2025
Browse Figures
Versions Notes

Abstract

Background: Newborn 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. Methods: Dried 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). Results: A 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. Conclusions: We report here for the first time the IEM incidence and distribution in the Lombardy region in the first five years of NBS.
Keywords: newborn screening (NBS); inborn errors of metabolism (IEMs); rare diseases; aminoacidemias (AAs); fatty acid oxidation disorders (FAODs); organic acidemias (OAs); urea cycle defects (UCDs); mass spectrometry (MS) newborn screening (NBS); inborn errors of metabolism (IEMs); rare diseases; aminoacidemias (AAs); fatty acid oxidation disorders (FAODs); organic acidemias (OAs); urea cycle defects (UCDs); mass spectrometry (MS)
Graphical Abstract

Share and Cite

MDPI and ACS Style

Berardo, C.; Vasco, A.; Mauri, A.; Lucchi, S.; Cappelletti, L.; Saielli, L.; Rizzetto, M.; Biganzoli, D.; Montrasio, C.; Postorivo, D.; et al. Expanded Newborn Screening in Italy: The First Report of Lombardy Region. Int. J. Neonatal Screen. 2025, 11, 31. https://doi.org/10.3390/ijns11020031

AMA Style

Berardo C, Vasco A, Mauri A, Lucchi S, Cappelletti L, Saielli L, Rizzetto M, Biganzoli D, Montrasio C, Postorivo D, et al. Expanded Newborn Screening in Italy: The First Report of Lombardy Region. International Journal of Neonatal Screening. 2025; 11(2):31. https://doi.org/10.3390/ijns11020031

Chicago/Turabian Style

Berardo, Clarissa, Alessandra Vasco, Alessia Mauri, Simona Lucchi, Laura Cappelletti, Laura Saielli, Manuela Rizzetto, Davide Biganzoli, Cristina Montrasio, Diana Postorivo, and et al. 2025. "Expanded Newborn Screening in Italy: The First Report of Lombardy Region" International Journal of Neonatal Screening 11, no. 2: 31. https://doi.org/10.3390/ijns11020031

APA Style

Berardo, C., Vasco, A., Mauri, A., Lucchi, S., Cappelletti, L., Saielli, L., Rizzetto, M., Biganzoli, D., Montrasio, C., Postorivo, D., Donnorso, M. P., Pratiffi, E., Meta, A., Carelli, S., Amorosi, A., Paci, S., Cefalo, G., Furlan, F., Menni, F., ... Cereda, C. (2025). Expanded Newborn Screening in Italy: The First Report of Lombardy Region. International Journal of Neonatal Screening, 11(2), 31. https://doi.org/10.3390/ijns11020031

Note that from the first issue of 2016, this journal uses article numbers instead of page numbers. See further details here.

Article Metrics

Back to TopTop