Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience

Abstract

by 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,add Show full author list
Int. J. Neonatal Screen. 2022, 8(3), 47; https://doi.org/10.3390/ijns8030047 - 9 Aug 2022
Cited by 21 | Viewed by 5648
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. Full article
(This article belongs to the Special Issue Tandem Mass Spectrometry in Newborn Screening)
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9 pages, 801 KiB
Open AccessArticle