International Journal of Neonatal Screening (Aug 2022)
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience
- Margherita Ruoppolo,
- Sabrina Malvagia,
- Sara Boenzi,
- Carla Carducci,
- Carlo Dionisi-Vici,
- Francesca Teofoli,
- Alberto Burlina,
- Antonio Angeloni,
- Tommaso Aronica,
- Andrea Bordugo,
- Ines Bucci,
- Marta Camilot,
- Maria Teresa Carbone,
- Roberta Cardinali,
- Claudia Carducci,
- Michela Cassanello,
- Cinzia Castana,
- Chiara Cazzorla,
- Renzo Ciatti,
- Simona Ferrari,
- Giulia Frisso,
- Silvia Funghini,
- Francesca Furlan,
- Serena Gasperini,
- Vincenza Gragnaniello,
- Chiara Guzzetti,
- Giancarlo La Marca,
- Luisa La Spina,
- Tania Lorè,
- Concetta Meli,
- MariaAnna Messina,
- Amelia Morrone,
- Francesca Nardecchia,
- Rita Ortolano,
- Giancarlo Parenti,
- Enza Pavanello,
- Damiana Pieragostino,
- Sara Pillai,
- Francesco Porta,
- Francesca Righetti,
- Claudia Rossi,
- Valentina Rovelli,
- Alessandro Salina,
- Laura Santoro,
- Pina Sauro,
- Maria Cristina Schiaffino,
- Simonetta Simonetti,
- Monica Vincenzi,
- Elisabetta Tarsi,
- Anna Paola Uccheddu
Affiliations
- Margherita Ruoppolo
- Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy
- Sabrina Malvagia
- Newborn Screening, Clinical Chemistry and Pharmacology Lab, Meyer Children’s University Hospital, 50139 Florence, Italy
- Sara Boenzi
- Division of Metabolic Disease, Bambino Gesù Childrens Hospital IRCCS, 00165 Rome, Italy
- Carla Carducci
- Department of Experimental Medicine, Sapienza University of Rome, 00161 Rome, Italy
- Carlo Dionisi-Vici
- Division of Metabolic Disease, Bambino Gesù Childrens Hospital IRCCS, 00165 Rome, Italy
- Francesca Teofoli
- Department 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 Burlina
- Division of Inherited Metabolic Diseases, University Hospital of Padova, 35128 Padova, Italy
- Antonio Angeloni
- Dipartimento di Medicina Sperimentale, Sapienza University of Rome, 00161 Rome, Italy
- Tommaso Aronica
- Ospedale Civico ARNAS PA, 90127 Palermo, Italy
- Andrea Bordugo
- Inherited Metabolic Disease Unit, Pediatric Department, AOUI, 37126 Verona, Italy
- Ines Bucci
- Center for Advanced Studies and Technology (CAST) and Department of Medicine and Aging Science, “G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, Italy
- Marta Camilot
- Department of Mother and Child, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, 37126 Verona, Italy
- Maria Teresa Carbone
- UOS Malattie Metaboliche e Rare, AORN Santobono, 80131 Naples, Italy
- Roberta Cardinali
- U.O.S.D. Screening Neonatale e Patologia Clinica AOU Policlinico Consorziale Ospedale Pediatrico Giovanni XXII Bari, 70121 Bari, Italy
- Claudia Carducci
- Dipartimento di Medicina Sperimentale, Sapienza University of Rome, 00161 Rome, Italy
- Michela Cassanello
- LABSIEM (Laboratory for the Study of Inborn Errors of Metabolism), Pediatric Clinic, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy
- Cinzia Castana
- Ospedale Civico ARNAS PA, 90127 Palermo, Italy
- Chiara Cazzorla
- Division of Inherited Metabolic Diseases, University Hospital of Padova, 35128 Padova, Italy
- Renzo Ciatti
- Centro Screening Neonatale Regione Marche, U.O.C. Neuropsichiatria Infantile—A.O. Ospedali Riuniti Marche Nord, 61032 Fano, Italy
- Simona Ferrari
- UO Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy
- Giulia Frisso
- Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy
- Silvia Funghini
- Newborn Screening, Clinical Chemistry and Pharmacology Lab, Meyer Children’s University Hospital, 50139 Florence, Italy
- Francesca Furlan
- Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Pediatria Alta Intensità di Cura, 20122 Milan, Italy
- Serena Gasperini
- Pediatric Department, San Gerardo Hospital, 20900 Monza, Italy
- Vincenza Gragnaniello
- Division of Inherited Metabolic Diseases, University Hospital of Padova, 35128 Padova, Italy
- Chiara Guzzetti
- SSD Endocrinologia Pediatrica e Centro Screening Neonatale, Ospedale Pediatrico Microcitemico “A. Cao”, 09121 Cagliari, Italy
- Giancarlo La Marca
- Newborn Screening, Clinical Chemistry and Pharmacology Lab, Meyer Children’s University Hospital, 50139 Florence, Italy
- Luisa La Spina
- Laboratorio Screening Neonatale—Clinica Pediatrica AOU Policlinico “G. Rodolico-San Marco”, 95123 Catania, Italy
- Tania Lorè
- U.O.S.D. Screening Neonatale e Patologia Clinica AOU Policlinico Consorziale Ospedale Pediatrico Giovanni XXII Bari, 70121 Bari, Italy
- Concetta Meli
- Laboratorio Screening Neonatale—Clinica Pediatrica AOU Policlinico “G. Rodolico-San Marco”, 95123 Catania, Italy
- MariaAnna Messina
- Laboratorio Screening Neonatale—Clinica Pediatrica AOU Policlinico “G. Rodolico-San Marco”, 95123 Catania, Italy
- Amelia Morrone
- Laboratory of Molecular Biology of Neurometabolic Diseases, Neuroscience Department, Meyer Children’s University Hospital, 50139 Florence, Italy
- Francesca Nardecchia
- Dipartimento di Neuroscienze Umane—Unità di Neuropsichiatria Infantile Università Roma Sapienza, 00161 Rome, Italy
- Rita Ortolano
- UO Pediatria, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy
- Giancarlo Parenti
- Dipartimento di Scienze Mediche Traslazionali Università degli Studi di Napoli Federico II, 80131 Naples, Italy
- Enza Pavanello
- SS Screening Prenatale e Neonatale, SC Biochimica Clinica, AOU Città della Salute e della Scienza di Torino, 10126 Torino, Italy
- Damiana Pieragostino
- Center 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
- Sara Pillai
- SSD Endocrinologia Pediatrica e Centro Screening Neonatale, Ospedale Pediatrico Microcitemico “A. Cao”, 09121 Cagliari, Italy
- Francesco Porta
- SC Pediatria-Malattie Metaboliche, Ospedale Infantile Regina Margherita AOU Città della Salute e della Scienza di Torino, 10126 Torino, Italy
- Francesca Righetti
- Centro Laboratoristico Regionale di Riferimento Screening Neonatale e Malattie Endocrino-Metaboliche UO Pediatria IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy
- Claudia Rossi
- Center for Advanced Studies and Technology (CAST) and Department of Psychological, Health and Territory Sciences, “G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, Italy
- Valentina Rovelli
- Clinical Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo e Carlo, University of Milan, 20142 Milano, Italy
- Alessandro Salina
- LABSIEM (Laboratory for the Study of Inborn Errors of Metabolism), Pediatric Clinic, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy
- Laura Santoro
- Ospedale Civico ARNAS PA, 90127 Palermo, Italy
- Pina Sauro
- SS Screening Prenatale e Neonatale, SC Biochimica Clinica, AOU Città della Salute e della Scienza di Torino, 10126 Torino, Italy
- Maria Cristina Schiaffino
- Pediatric Clinic, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy
- Simonetta Simonetti
- U.O.S.D. Screening Neonatale e Patologia Clinica AOU Policlinico Consorziale Ospedale Pediatrico Giovanni XXII Bari, 70121 Bari, Italy
- Monica Vincenzi
- Department 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 Tarsi
- Centro Screening Neonatale Regione Marche, U.O.C. Neuropsichiatria Infantile—A.O. Ospedali Riuniti Marche Nord, 61032 Fano, Italy
- Anna Paola Uccheddu
- SSD Endocrinologia Pediatrica e Centro Screening Neonatale, Ospedale Pediatrico Microcitemico “A. Cao”, 09121 Cagliari, Italy
- DOI
- https://doi.org/10.3390/ijns8030047
- Journal volume & issue
-
Vol. 8,
no. 3
p. 47
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.
Keywords
- aminoacidemias
- fatty acid oxidation disorders
- inborn errors of metabolism
- newborn screening
- organic acidemias
- urea cycle defects
