Volume 41 Supplement 2

71st Congress of the Italian Society of Pediatrics

Open Access

Neonatal Expanded Screening toward lysosomal storage disorders

  • Alberto Burlina1Email author,
  • Giulia Polo1,
  • Francesca Furlan1,
  • Monica Del Rizzo1,
  • Andrea Celato1,
  • Laura Giordano1 and
  • Chiara Cazzorla1
Italian Journal of Pediatrics201541(Suppl 2):A11

https://doi.org/10.1186/1824-7288-41-S2-A11

Published: 30 September 2015

Newborn Screening (NBS) is a public health program aimed at identifying treatable conditions in pre-symptomatic newborns to avoid premature mortality, morbidity and disability. The advent of tandem mass – spectrometry (MS/MS) has enabled the interrogation of multiple disorders using a single, multianalyte assay changing the origin scenario of one screening, one disease.

For example, even if a disorder was extremely rare, if it could have been detected and there were an effective intervention the minimal cost of adding it to a MS/MS panel might be cost effective.

Similarly, if one could add a disorder which there was no accepted effective treatment, it might be cost effective to add it based upon minimizing diagnostic testing to determine the cause of the phenotype and being able to counsel parents about their reproductive options.

This new based-technology prevention program, aimed at identifying an increasing number of conditions, fits for some lysosomal disorders (LSDs) such as Gaucher, Pompe, Fabry, MPSI, krabbe and Niemann-Pick diseases that have been proposed for inclusion in newborn expanded screening programs. In different Countries, pilot studies including all the above diseases or more selected disorders have already found the opportunity to validate the effectiveness of different methods, define the cut-offs for detection of the LSDs and alert the entire system of urgent referral, follow-up confirmation, treatment and screening program communication.

Authors’ Affiliations

(1)
Division of Inherited Metabolic Disorders, Department of Pediatrics, University Hospital

Copyright

© Burlina et al. 2015

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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