ArticleInternational journal of neonatal screening2022
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.
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Article in International journal of neonatal screening, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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47 citing papers in PubMed.
- Clinical spectrum and genetic landscape of MTHFR deficiency: a cohort study including novel variants.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- A Comprehensive Meta-Analytical Investigation into the Incidence of Neonatal Amino Acid Metabolic Disorders Across China.International journal of neonatal screening · 2026Review
- Five-year experience of a combined newborn screening for spinal muscular atrophy and severe combined immunodeficiency in Liguria, Italy.European journal of human genetics : EJHG · 2026Article
- Pre-emptive treatment in later-onset urea cycle disorders: a clinical perspective on glycerol phenylbutyrate.Orphanet journal of rare diseases · 2026Review
- Molecular Genetic and Biochemical Characterization of Hyperphenylalaninemia Based on Expanded Neonatal Screening Data from 2023 to 2024 in the Russian Federation.International journal of molecular sciences · 2026Article
- Emerging Quantitative Targeted Metabolomics Approaches for Future Inborn Errors of Metabolism Screening.Diagnostics (Basel, Switzerland) · 2026Review
- Chronic Low-Dose Unsymmetrical Dimethylhydrazine Exposure in Rats: Multiorgan Mechanisms and Biomarker Identification.Journal of applied toxicology : JAT · 2026Article
- Advancements and insights into newborn screening with tandem mass spectrometry in China: a comprehensive descriptive analysis (2017-2021).BMJ paediatrics open · 2026Article
- Incorporating Next-Generation Sequencing in Newborn Screening for Organic Acidemias.International journal of neonatal screening · 2026Article
- Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation.International journal of neonatal screening · 2026Article
- Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives.Pediatric reports · 2026Review
- Psychological Impact of Newborn Screening for 3-Methylcrotonyl-CoA Carboxylase Deficiency: The Parental Experience.International journal of neonatal screening · 2025Article
- Benefits and pitfalls in newborn screening for carnitine uptake deficiency: a 4-year single-center experience.Orphanet journal of rare diseases · 2025Article
- A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA).JIMD reports · 2025Article
- Celebrating 50 Years of Nationwide Newborn Screening in Hungary-Review, Current Situation, and Future Directions.International journal of neonatal screening · 2025Review
- A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.JAMA network open · 2025Article
- Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) Newborn Screening in Italy: Five Years' Experience from a Nationwide Program.International journal of neonatal screening · 2025Article
- Milder Form of Cobalamin C Disease May Be Missed by Newborn Screening: The Importance of Methylmalonic Acid Assessment.International journal of neonatal screening · 2025Article
- Arginase 1 deficiency: a treatable form of spastic paraplegia.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Review
- Variants inGenes · 2025Review
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Authors and funding
50 authors.
Margherita RuoppoloDepartment of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.ORCID 0000-0002-7364-0602
Sabrina MalvagiaNewborn Screening, Clinical Chemistry and Pharmacology Lab, Meyer Children's University Hospital, 50139 Florence, Italy.
Sara BoenziDivision of Metabolic Disease, Bambino Gesù Childrens Hospital IRCCS, 00165 Rome, Italy.ORCID 0000-0002-9153-4950
Carla CarducciDepartment of Experimental Medicine, Sapienza University of Rome, 00161 Rome, Italy.ORCID 0000-0003-2384-1550
Carlo Dionisi-ViciDivision of Metabolic Disease, Bambino Gesù Childrens Hospital IRCCS, 00165 Rome, Italy.ORCID 0000-0002-0007-3379
Francesca TeofoliDepartment of Mother and Child, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, 37126 Verona, Italy.
Alberto BurlinaDivision of Inherited Metabolic Diseases, University Hospital of Padova, 35128 Padova, Italy.ORCID 0000-0001-7724-137X
Antonio AngeloniDipartimento di Medicina Sperimentale, Sapienza University of Rome, 00161 Rome, Italy.
Tommaso AronicaOspedale Civico ARNAS PA, 90127 Palermo, Italy.
Andrea BordugoInherited Metabolic Disease Unit, Pediatric Department, AOUI, 37126 Verona, Italy.ORCID 0000-0003-1927-8187
Ines BucciCenter for Advanced Studies and Technology (CAST) and Department of Medicine and Aging Science, "G. d'Annunzio" University of Chieti-Pescara, 66100 Chieti, Italy.
Marta CamilotDepartment of Mother and Child, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, 37126 Verona, Italy.ORCID 0000-0002-7550-8461
Maria Teresa CarboneUOS Malattie Metaboliche e Rare, AORN Santobono, 80131 Naples, Italy.
Roberta CardinaliU.O.S.D. Screening Neonatale e Patologia Clinica AOU Policlinico Consorziale Ospedale Pediatrico Giovanni XXII Bari, 70121 Bari, Italy.
Claudia CarducciDipartimento di Medicina Sperimentale, Sapienza University of Rome, 00161 Rome, Italy.
Michela CassanelloLABSIEM (Laboratory for the Study of Inborn Errors of Metabolism), Pediatric Clinic, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Cinzia CastanaOspedale Civico ARNAS PA, 90127 Palermo, Italy.
Chiara CazzorlaDivision of Inherited Metabolic Diseases, University Hospital of Padova, 35128 Padova, Italy.
Renzo CiattiCentro Screening Neonatale Regione Marche, U.O.C. Neuropsichiatria Infantile-A.O. Ospedali Riuniti Marche Nord, 61032 Fano, Italy.
Simona FerrariUO Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
Giulia FrissoDepartment of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.ORCID 0000-0003-3487-7743
Silvia FunghiniNewborn Screening, Clinical Chemistry and Pharmacology Lab, Meyer Children's University Hospital, 50139 Florence, Italy.
Francesca FurlanFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Pediatria Alta Intensità di Cura, 20122 Milan, Italy.
Serena GasperiniPediatric Department, San Gerardo Hospital, 20900 Monza, Italy.ORCID 0000-0001-8743-4407
Vincenza GragnanielloDivision of Inherited Metabolic Diseases, University Hospital of Padova, 35128 Padova, Italy.
Chiara GuzzettiSSD Endocrinologia Pediatrica e Centro Screening Neonatale, Ospedale Pediatrico Microcitemico "A. Cao", 09121 Cagliari, Italy.
Giancarlo La MarcaNewborn Screening, Clinical Chemistry and Pharmacology Lab, Meyer Children's University Hospital, 50139 Florence, Italy.
Luisa La SpinaLaboratorio Screening Neonatale-Clinica Pediatrica AOU Policlinico "G. Rodolico-San Marco", 95123 Catania, Italy.ORCID 0000-0003-1218-6407
Tania LorèU.O.S.D. Screening Neonatale e Patologia Clinica AOU Policlinico Consorziale Ospedale Pediatrico Giovanni XXII Bari, 70121 Bari, Italy.
Concetta MeliLaboratorio Screening Neonatale-Clinica Pediatrica AOU Policlinico "G. Rodolico-San Marco", 95123 Catania, Italy.
MariaAnna MessinaLaboratorio Screening Neonatale-Clinica Pediatrica AOU Policlinico "G. Rodolico-San Marco", 95123 Catania, Italy.ORCID 0000-0002-8652-4248
Amelia MorroneLaboratory of Molecular Biology of Neurometabolic Diseases, Neuroscience Department, Meyer Children's University Hospital, 50139 Florence, Italy.ORCID 0000-0003-2890-8179
Francesca NardecchiaDipartimento di Neuroscienze Umane-Unità di Neuropsichiatria Infantile Università Roma Sapienza, 00161 Rome, Italy.ORCID 0000-0002-0808-2827
Rita OrtolanoUO Pediatria, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
Giancarlo ParentiDipartimento di Scienze Mediche Traslazionali Università degli Studi di Napoli Federico II, 80131 Naples, Italy.
Enza PavanelloSS Screening Prenatale e Neonatale, SC Biochimica Clinica, AOU Città della Salute e della Scienza di Torino, 10126 Torino, Italy.
Damiana PieragostinoCenter for Advanced Studies and Technology (CAST) and Department of Innovative Technologies in Medicine and Dentistry, "G. d'Annunzio" University of Chieti-Pescara, 66100 Chieti, Italy.ORCID 0000-0003-1015-3484
Sara PillaiSSD Endocrinologia Pediatrica e Centro Screening Neonatale, Ospedale Pediatrico Microcitemico "A. Cao", 09121 Cagliari, Italy.
Francesco PortaSC Pediatria-Malattie Metaboliche, Ospedale Infantile Regina Margherita AOU Città della Salute e della Scienza di Torino, 10126 Torino, Italy.
Francesca RighettiCentro Laboratoristico Regionale di Riferimento Screening Neonatale e Malattie Endocrino-Metaboliche UO Pediatria IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
Claudia RossiCenter for Advanced Studies and Technology (CAST) and Department of Psychological, Health and Territory Sciences, "G. d'Annunzio" University of Chieti-Pescara, 66100 Chieti, Italy.ORCID 0000-0003-0949-0280
Valentina RovelliClinical Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo e Carlo, University of Milan, 20142 Milano, Italy.ORCID 0000-0002-7703-8635
Alessandro SalinaLABSIEM (Laboratory for the Study of Inborn Errors of Metabolism), Pediatric Clinic, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.ORCID 0000-0003-0133-6705
Laura SantoroOspedale Civico ARNAS PA, 90127 Palermo, Italy.
Pina SauroSS Screening Prenatale e Neonatale, SC Biochimica Clinica, AOU Città della Salute e della Scienza di Torino, 10126 Torino, Italy.ORCID 0000-0002-7783-827X
Maria Cristina SchiaffinoPediatric Clinic, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Simonetta SimonettiU.O.S.D. Screening Neonatale e Patologia Clinica AOU Policlinico Consorziale Ospedale Pediatrico Giovanni XXII Bari, 70121 Bari, Italy.
Monica VincenziDepartment of Mother and Child, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, 37126 Verona, Italy.
Elisabetta TarsiCentro Screening Neonatale Regione Marche, U.O.C. Neuropsichiatria Infantile-A.O. Ospedali Riuniti Marche Nord, 61032 Fano, Italy.
Anna Paola UcchedduSSD Endocrinologia Pediatrica e Centro Screening Neonatale, Ospedale Pediatrico Microcitemico "A. Cao", 09121 Cagliari, Italy.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Newborn screening (NBS) for inborn errors of metabolism is one of the most advanced tools for secondary prevention in medicine, as it allows early diagnosis and prompt treatment initiation. The expanded newborn screening was introduced in Italy between 2016 and 2017 (Law 167/2016; DM 13 October 2016; DPCM 12-1-2017). A total of 1,586,578 infants born in Italy were screened between January 2017 and December 2020. For this survey, we collected data from 15 Italian screening laboratories, focusing on the metabolic disorders identified by tandem mass spectrometry (MS/MS) based analysis between January 2019 and December 2020. Aminoacidemias were the most common inborn errors in Italy, and an equal percentage was observed in detecting organic acidemias and mitochondrial fatty acids beta-oxidation defects. Second-tier tests are widely used in most laboratories to reduce false positives. For example, second-tier tests for methylmalonic acid and homocysteine considerably improved the screening of CblC without increasing unnecessary recalls. Finally, the newborn screening allowed us to identify conditions that are mainly secondary to a maternal deficiency. We describe the goals reached since the introduction of the screening in Italy by exchanging knowledge and experiences among the laboratories.
Indexed as
aminoacidemiasfatty acid oxidation disordersinborn errors of metabolismnewborn screeningorganic acidemiastandem mass spectrometryurea cycle defects
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