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Int. J. Neonatal Screen. 2018, 4(2), 12; https://doi.org/10.3390/ijns4020012

Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily

1
Referral Center for Inherited Metabolic Diseases, Pediatric Clinical, AOU Policlinico-VE, Via Santa Sofia 78, 95123 Catania, Italy
2
Child Neurology and Psichiatry, AOU Policlinico-VE, Via Santa Sofia 78, 95123 Catania, Italy
3
Chemistry Department, Uiversity of Catania, Viale Andrea Doria 5, 95123 Catania, Italy
*
Author to whom correspondence should be addressed.
Received: 21 March 2018 / Revised: 3 April 2018 / Accepted: 4 April 2018 / Published: 5 April 2018
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Abstract

The expanded newborn screening for selected inborn errors of metabolism (IEM) in Sicily was introduced in 2007 by a Regional project entitled “Early detection of congenital metabolic diseases: expanded neonatal screening”. It established two newborn screening laboratories, for Western and Eastern Sicily, which started their activity in 2011. Here we present the results of expanded screening (excluding phenylketonuria (PKU)) of the Eastern laboratory from January 2011 to December 2017. Our data highlight the importance of the expanded newborn screening as a basic health program to avoid the underestimation of rare diseases and the need of further investigations even when there are no textbook alterations of the metabolic profiles. We performed our analysis on dried blood spot by tandem mass spectrometry, according to Italian guidelines. A total of 196 samples from 60,408 newborns gave positive screening results (recall rate 0.32%) while 12 babies were true positive, including 2 newborns whose mothers resulted in being affected by a metabolic disease. The overall frequency of IEM found in the screening panel was 1:6041 (mothers excluded) or 1:5034 (mothers included). The introduction of MS/MS technology in Sicily has significantly increased the detection of inherited metabolic disorders, including those not previously covered, with a predictable improved outcome for several disorders. View Full-Text
Keywords: newborn screening; mass spectrometry; inherited diseases newborn screening; mass spectrometry; inherited diseases
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).
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Messina, M.; Meli, C.; Raudino, F.; Pittalá, A.; Arena, A.; Barone, R.; Giuffrida, F.; Iacobacci, R.; Muccilli, V.; Sorge, G.; Fiumara, A. Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily. Int. J. Neonatal Screen. 2018, 4, 12.

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