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Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience
| Content Provider | MDPI |
|---|---|
| Author | Tania, Lorè Ruoppolo, Margherita Malvagia, Sabrina Boenzi, Sara Carducci, Carla Dionisi-Vici, Carlo Teofoli, Francesca Burlina, Alberto Angeloni, Antonio Aronica, Tommaso Bordugo, Andrea Bucci, Ines Camilot, Marta Carbone, Maria Teresa Cardinali, Roberta Carducci, Claudia Cassanello, Michela Castana, Cinzia Cazzorla, Chiara Ciatti, Renzo Ferrari, Simona Frisso, Giulia Funghini, Silvia Furlan, Francesca Gasperini, Serena Gragnaniello, Vincenza Guzzetti, Chiara Marca, Giancarlo La Spina, Luisa La Meli, Concetta Messina, Maria Anna Morrone, Amelia Nardecchia, Francesca Ortolano, Rita Parenti, Giancarlo Pavanello, Enza Pieragostino, Damiana Pillai, Sara Porta, Francesco Righetti, Francesca Rossi, Claudia Rovelli, Valentina Salina, Alessandro Santoro, Laura Sauro, Pina Schiaffino, Maria Cristina Simonetti, Simonetta Vincenzi, Monica Tarsi, Elisabetta Uccheddu, Anna Paola |
| Copyright Year | 2022 |
| 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. |
| Starting Page | 47 |
| e-ISSN | 2409515X |
| DOI | 10.3390/ijns8030047 |
| Journal | International Journal of Neonatal Screening |
| Issue Number | 3 |
| Volume Number | 8 |
| Language | English |
| Publisher | MDPI |
| Publisher Date | 2022-08-09 |
| Access Restriction | Open |
| Subject Keyword | International Journal of Neonatal Screening Pediatrics and Child Health Aminoacidemias Fatty Acid Oxidation Disorders Inborn Errors of Metabolism Newborn Screening Organic Acidemias Urea Cycle Defects Tandem Mass Spectrometry |
| Content Type | Text |
| Resource Type | Article |
