Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy.

The increasing availability of treatments and the importance of early intervention have stimulated interest in newborn screening for lysosomal storage diseases. Since 2015, 112,446 newborns in North Eastern Italy have been screened for four lysosomal disorders-mucopolysaccharidosis type I and Pompe, Fabry and Gaucher diseases-using a multiplexed tandem mass spectrometry (MS/MS) assay system. We recalled 138 neonates (0.12%) for collection of a second dried blood spot. Low activity was confirmed in 62 (0.06%), who underwent confirmatory testing. Twenty-five neonates (0.02%) were true positive: eight with Pompe disease; seven with Gaucher disease; eight with Fabry disease; and two with Mucopolysaccharidosis type I. The combined incidence of the four disorders was 1 in 4497 births. Except for Pompe disease, a second-tier test was implemented. We conclude that newborn screening for multiple lysosomal storage diseases combined with a second-tier test can largely eliminate false-positives and achieve rapid diagnosis.

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© 2019 by the authors.

Déclaration de conflit d'intérêts

Conflicts of InterestA.B.B. has received speaker honoraria and travel support from Sanofi Genzyme, Biomarin and Takeda-Shire. He is a member of the European Advisory Board of Nutricia Danone and Biomarin. A.P.B. has received speaker honoraria and travel support from Sanofi Genzyme and Amicus Therapeutics. He is a member of the European Advisory Board of the Fabry Registry, which is sponsored by Sanofi Genzyme. G.P. has received speaker honoraria and travel support from PerkinElmer, Biomarin, Sanofi Genzyme and Takeda-Shire. L.S., C.C., L.R., D.G., and G.D., declare that they have no conflict of interest.