Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience
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Published:2022-08-09
Issue:3
Volume:8
Page:47
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ISSN:2409-515X
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Container-title:International Journal of Neonatal Screening
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language:en
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Short-container-title:IJNS
Author:
Ruoppolo MargheritaORCID, Malvagia Sabrina, Boenzi SaraORCID, Carducci CarlaORCID, Dionisi-Vici CarloORCID, Teofoli Francesca, Burlina AlbertoORCID, Angeloni Antonio, Aronica Tommaso, Bordugo AndreaORCID, Bucci Ines, Camilot MartaORCID, Carbone Maria Teresa, Cardinali Roberta, Carducci Claudia, Cassanello Michela, Castana Cinzia, Cazzorla Chiara, Ciatti Renzo, Ferrari Simona, Frisso GiuliaORCID, Funghini Silvia, Furlan Francesca, Gasperini SerenaORCID, Gragnaniello Vincenza, Guzzetti Chiara, La Marca Giancarlo, La Spina LuisaORCID, Lorè Tania, Meli Concetta, Messina MariaAnnaORCID, Morrone AmeliaORCID, Nardecchia FrancescaORCID, Ortolano Rita, Parenti Giancarlo, Pavanello Enza, Pieragostino DamianaORCID, Pillai Sara, Porta Francesco, Righetti Francesca, Rossi ClaudiaORCID, Rovelli ValentinaORCID, Salina AlessandroORCID, Santoro Laura, Sauro PinaORCID, Schiaffino Maria Cristina, Simonetti Simonetta, Vincenzi Monica, Tarsi Elisabetta, Uccheddu Anna Paola
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.
Subject
Obstetrics and Gynecology,Immunology and Microbiology (miscellaneous),Pediatrics, Perinatology and Child Health
Cited by
15 articles.
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