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© 2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.

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.

Details

Title
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience
Author
Ruoppolo, Margherita 1   VIAFID ORCID Logo  ; Malvagia, Sabrina 2 ; Boenzi, Sara 3   VIAFID ORCID Logo  ; Carducci, Carla 4   VIAFID ORCID Logo  ; Dionisi-Vici, Carlo 3   VIAFID ORCID Logo  ; Teofoli, Francesca 5 ; Burlina, Alberto 6   VIAFID ORCID Logo  ; Angeloni, Antonio 7 ; Aronica, Tommaso 8 ; Bordugo, Andrea 9   VIAFID ORCID Logo  ; Bucci, Ines 10 ; Camilot, Marta 5   VIAFID ORCID Logo  ; Carbone, Maria Teresa 11 ; Cardinali, Roberta 12 ; Carducci, Claudia 7 ; Cassanello, Michela 13 ; Castana, Cinzia 8 ; Cazzorla, Chiara 6 ; Ciatti, Renzo 14 ; Ferrari, Simona 15 ; Frisso, Giulia 1   VIAFID ORCID Logo  ; Funghini, Silvia 2 ; Furlan, Francesca 16 ; Gasperini, Serena 17   VIAFID ORCID Logo  ; Gragnaniello, Vincenza 6 ; Guzzetti, Chiara 18 ; Giancarlo La Marca 2 ; La Spina, Luisa 19   VIAFID ORCID Logo  ; Lorè, Tania 12 ; Meli, Concetta 19 ; Messina, MariaAnna 19   VIAFID ORCID Logo  ; Morrone, Amelia 20   VIAFID ORCID Logo  ; Nardecchia, Francesca 21   VIAFID ORCID Logo  ; Ortolano, Rita 22 ; Parenti, Giancarlo 23 ; Pavanello, Enza 24 ; Pieragostino, Damiana 25   VIAFID ORCID Logo  ; Pillai, Sara 18 ; Porta, Francesco 26 ; Righetti, Francesca 27 ; Rossi, Claudia 28   VIAFID ORCID Logo  ; Rovelli, Valentina 29   VIAFID ORCID Logo  ; Salina, Alessandro 13 ; Santoro, Laura 8 ; Sauro, Pina 24   VIAFID ORCID Logo  ; Schiaffino, Maria Cristina 30 ; Simonetti, Simonetta 12 ; Vincenzi, Monica 5 ; Tarsi, Elisabetta 14 ; Uccheddu, Anna Paola 18 

 Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy; CEINGE Biotecnologie Avanzate Scarl, 80131 Naples, Italy 
 Newborn Screening, Clinical Chemistry and Pharmacology Lab, Meyer Children’s University Hospital, 50139 Florence, Italy 
 Division of Metabolic Disease, Bambino Gesù Childrens Hospital IRCCS, 00165 Rome, Italy 
 Department of Experimental Medicine, Sapienza University of Rome, 00161 Rome, Italy 
 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 
 Division of Inherited Metabolic Diseases, University Hospital of Padova, 35128 Padova, Italy 
 Dipartimento di Medicina Sperimentale, Sapienza University of Rome, 00161 Rome, Italy 
 Ospedale Civico ARNAS PA, 90127 Palermo, Italy 
 Inherited Metabolic Disease Unit, Pediatric Department, AOUI, 37126 Verona, Italy 
10  Center for Advanced Studies and Technology (CAST) and Department of Medicine and Aging Science, “G. d’Annunzio” University of Chieti-Pescara, 66100 Chieti, Italy 
11  UOS Malattie Metaboliche e Rare, AORN Santobono, 80131 Naples, Italy 
12  U.O.S.D. Screening Neonatale e Patologia Clinica AOU Policlinico Consorziale Ospedale Pediatrico Giovanni XXII Bari, 70121 Bari, Italy 
13  LABSIEM (Laboratory for the Study of Inborn Errors of Metabolism), Pediatric Clinic, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy 
14  Centro Screening Neonatale Regione Marche, U.O.C. Neuropsichiatria Infantile—A.O. Ospedali Riuniti Marche Nord, 61032 Fano, Italy 
15  UO Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy 
16  Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Pediatria Alta Intensità di Cura, 20122 Milan, Italy 
17  Pediatric Department, San Gerardo Hospital, 20900 Monza, Italy 
18  SSD Endocrinologia Pediatrica e Centro Screening Neonatale, Ospedale Pediatrico Microcitemico “A. Cao”, 09121 Cagliari, Italy 
19  Laboratorio Screening Neonatale—Clinica Pediatrica AOU Policlinico “G. Rodolico-San Marco”, 95123 Catania, Italy 
20  Laboratory of Molecular Biology of Neurometabolic Diseases, Neuroscience Department, Meyer Children’s University Hospital, 50139 Florence, Italy 
21  Dipartimento di Neuroscienze Umane—Unità di Neuropsichiatria Infantile Università Roma Sapienza, 00161 Rome, Italy 
22  UO Pediatria, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy 
23  Dipartimento di Scienze Mediche Traslazionali Università degli Studi di Napoli Federico II, 80131 Naples, Italy 
24  SS Screening Prenatale e Neonatale, SC Biochimica Clinica, AOU Città della Salute e della Scienza di Torino, 10126 Torino, Italy 
25  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 
26  SC Pediatria-Malattie Metaboliche, Ospedale Infantile Regina Margherita AOU Città della Salute e della Scienza di Torino, 10126 Torino, Italy 
27  Centro Laboratoristico Regionale di Riferimento Screening Neonatale e Malattie Endocrino-Metaboliche UO Pediatria IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy 
28  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 
29  Clinical Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo e Carlo, University of Milan, 20142 Milano, Italy 
30  Pediatric Clinic, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy 
First page
47
Publication year
2022
Publication date
2022
Publisher
MDPI AG
e-ISSN
2409515X
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2716550861
Copyright
© 2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.