Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience
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...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-08-01
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| Series: | International Journal of Neonatal Screening |
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| Online Access: | https://www.mdpi.com/2409-515X/8/3/47 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Margherita Ruoppolo |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-09T23:40:54Z |
| format | Article |
| id | doaj.art-693ce51ab3634e2681369cd0d228d859 |
| institution | Directory Open Access Journal |
| issn | 2409-515X |
| language | English |
| last_indexed | 2024-03-09T23:40:54Z |
| publishDate | 2022-08-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Neonatal Screening |
| spelling | doaj.art-693ce51ab3634e2681369cd0d228d8592023-11-23T16:51:52ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2022-08-01834710.3390/ijns8030047Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National ExperienceMargherita Ruoppolo0Sabrina Malvagia1Sara Boenzi2Carla Carducci3Carlo Dionisi-Vici4Francesca Teofoli5Alberto Burlina6Antonio Angeloni7Tommaso Aronica8Andrea Bordugo9Ines Bucci10Marta Camilot11Maria Teresa Carbone12Roberta Cardinali13Claudia Carducci14Michela Cassanello15Cinzia Castana16Chiara Cazzorla17Renzo Ciatti18Simona Ferrari19Giulia Frisso20Silvia Funghini21Francesca Furlan22Serena Gasperini23Vincenza Gragnaniello24Chiara Guzzetti25Giancarlo La Marca26Luisa La Spina27Tania Lorè28Concetta Meli29MariaAnna Messina30Amelia Morrone31Francesca Nardecchia32Rita Ortolano33Giancarlo Parenti34Enza Pavanello35Damiana Pieragostino36Sara Pillai37Francesco Porta38Francesca Righetti39Claudia Rossi40Valentina Rovelli41Alessandro Salina42Laura Santoro43Pina Sauro44Maria Cristina Schiaffino45Simonetta Simonetti46Monica Vincenzi47Elisabetta Tarsi48Anna Paola Uccheddu49Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, ItalyNewborn Screening, Clinical Chemistry and Pharmacology Lab, Meyer Children’s University Hospital, 50139 Florence, ItalyDivision of Metabolic Disease, Bambino Gesù Childrens Hospital IRCCS, 00165 Rome, ItalyDepartment of Experimental Medicine, Sapienza University of Rome, 00161 Rome, ItalyDivision of Metabolic Disease, Bambino Gesù Childrens Hospital IRCCS, 00165 Rome, ItalyDepartment of Mother and Child, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, 37126 Verona, ItalyDivision of Inherited Metabolic Diseases, University Hospital of Padova, 35128 Padova, ItalyDipartimento di Medicina Sperimentale, Sapienza University of Rome, 00161 Rome, ItalyOspedale Civico ARNAS PA, 90127 Palermo, ItalyInherited Metabolic Disease Unit, Pediatric Department, AOUI, 37126 Verona, ItalyCenter for Advanced Studies and Technology (CAST) and Department of Medicine and Aging Science, “G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, ItalyDepartment of Mother and Child, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, 37126 Verona, ItalyUOS Malattie Metaboliche e Rare, AORN Santobono, 80131 Naples, ItalyU.O.S.D. Screening Neonatale e Patologia Clinica AOU Policlinico Consorziale Ospedale Pediatrico Giovanni XXII Bari, 70121 Bari, ItalyDipartimento di Medicina Sperimentale, Sapienza University of Rome, 00161 Rome, ItalyLABSIEM (Laboratory for the Study of Inborn Errors of Metabolism), Pediatric Clinic, IRCCS Istituto Giannina Gaslini, 16147 Genoa, ItalyOspedale Civico ARNAS PA, 90127 Palermo, ItalyDivision of Inherited Metabolic Diseases, University Hospital of Padova, 35128 Padova, ItalyCentro Screening Neonatale Regione Marche, U.O.C. Neuropsichiatria Infantile—A.O. Ospedali Riuniti Marche Nord, 61032 Fano, ItalyUO Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, ItalyDepartment of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, ItalyNewborn Screening, Clinical Chemistry and Pharmacology Lab, Meyer Children’s University Hospital, 50139 Florence, ItalyFondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Pediatria Alta Intensità di Cura, 20122 Milan, ItalyPediatric Department, San Gerardo Hospital, 20900 Monza, ItalyDivision of Inherited Metabolic Diseases, University Hospital of Padova, 35128 Padova, ItalySSD Endocrinologia Pediatrica e Centro Screening Neonatale, Ospedale Pediatrico Microcitemico “A. Cao”, 09121 Cagliari, ItalyNewborn Screening, Clinical Chemistry and Pharmacology Lab, Meyer Children’s University Hospital, 50139 Florence, ItalyLaboratorio Screening Neonatale—Clinica Pediatrica AOU Policlinico “G. Rodolico-San Marco”, 95123 Catania, ItalyU.O.S.D. Screening Neonatale e Patologia Clinica AOU Policlinico Consorziale Ospedale Pediatrico Giovanni XXII Bari, 70121 Bari, ItalyLaboratorio Screening Neonatale—Clinica Pediatrica AOU Policlinico “G. Rodolico-San Marco”, 95123 Catania, ItalyLaboratorio Screening Neonatale—Clinica Pediatrica AOU Policlinico “G. Rodolico-San Marco”, 95123 Catania, ItalyLaboratory of Molecular Biology of Neurometabolic Diseases, Neuroscience Department, Meyer Children’s University Hospital, 50139 Florence, ItalyDipartimento di Neuroscienze Umane—Unità di Neuropsichiatria Infantile Università Roma Sapienza, 00161 Rome, ItalyUO Pediatria, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, ItalyDipartimento di Scienze Mediche Traslazionali Università degli Studi di Napoli Federico II, 80131 Naples, ItalySS Screening Prenatale e Neonatale, SC Biochimica Clinica, AOU Città della Salute e della Scienza di Torino, 10126 Torino, ItalyCenter for Advanced Studies and Technology (CAST) and Department of Innovative Technologies in Medicine and Dentistry, “G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, ItalySSD Endocrinologia Pediatrica e Centro Screening Neonatale, Ospedale Pediatrico Microcitemico “A. Cao”, 09121 Cagliari, ItalySC Pediatria-Malattie Metaboliche, Ospedale Infantile Regina Margherita AOU Città della Salute e della Scienza di Torino, 10126 Torino, ItalyCentro Laboratoristico Regionale di Riferimento Screening Neonatale e Malattie Endocrino-Metaboliche UO Pediatria IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, ItalyCenter for Advanced Studies and Technology (CAST) and Department of Psychological, Health and Territory Sciences, “G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, ItalyClinical Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo e Carlo, University of Milan, 20142 Milano, ItalyLABSIEM (Laboratory for the Study of Inborn Errors of Metabolism), Pediatric Clinic, IRCCS Istituto Giannina Gaslini, 16147 Genoa, ItalyOspedale Civico ARNAS PA, 90127 Palermo, ItalySS Screening Prenatale e Neonatale, SC Biochimica Clinica, AOU Città della Salute e della Scienza di Torino, 10126 Torino, ItalyPediatric Clinic, IRCCS Istituto Giannina Gaslini, 16147 Genoa, ItalyU.O.S.D. Screening Neonatale e Patologia Clinica AOU Policlinico Consorziale Ospedale Pediatrico Giovanni XXII Bari, 70121 Bari, ItalyDepartment of Mother and Child, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, 37126 Verona, ItalyCentro Screening Neonatale Regione Marche, U.O.C. Neuropsichiatria Infantile—A.O. Ospedali Riuniti Marche Nord, 61032 Fano, ItalySSD Endocrinologia Pediatrica e Centro Screening Neonatale, Ospedale Pediatrico Microcitemico “A. Cao”, 09121 Cagliari, ItalyNewborn 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.https://www.mdpi.com/2409-515X/8/3/47aminoacidemiasfatty acid oxidation disordersinborn errors of metabolismnewborn screeningorganic acidemiasurea cycle defects |
| spellingShingle | 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 Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience International Journal of Neonatal Screening aminoacidemias fatty acid oxidation disorders inborn errors of metabolism newborn screening organic acidemias urea cycle defects |
| title | Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience |
| title_full | Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience |
| title_fullStr | Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience |
| title_full_unstemmed | Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience |
| title_short | Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience |
| title_sort | expanded newborn screening in italy using tandem mass spectrometry two years of national experience |
| topic | aminoacidemias fatty acid oxidation disorders inborn errors of metabolism newborn screening organic acidemias urea cycle defects |
| url | https://www.mdpi.com/2409-515X/8/3/47 |
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