Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy.
Alberto B BurlinaGiulia PoloLaura RubertDaniela GueraldiChiara CazzorlaGiovanni DuroLeonardo SalviatiAlessandro P BurlinaPublished in: International journal of neonatal screening (2019)
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.
Keyphrases
- replacement therapy
- smoking cessation
- tandem mass spectrometry
- late onset
- ultra high performance liquid chromatography
- healthcare
- randomized controlled trial
- south africa
- high performance liquid chromatography
- primary care
- heart failure
- pregnant women
- mass spectrometry
- high resolution
- high throughput
- liquid chromatography
- simultaneous determination
- single cell
- gestational age
- atrial fibrillation
- sensitive detection