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...
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| Format: | Article |
| Language: | English |
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MDPI AG
2019-06-01
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| Series: | International Journal of Neonatal Screening |
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| Online Access: | https://www.mdpi.com/2409-515X/5/2/24 |
| _version_ | 1811199106056454144 |
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| author | Alberto B. Burlina Giulia Polo Laura Rubert Daniela Gueraldi Chiara Cazzorla Giovanni Duro Leonardo Salviati Alessandro P. Burlina |
| author_facet | Alberto B. Burlina Giulia Polo Laura Rubert Daniela Gueraldi Chiara Cazzorla Giovanni Duro Leonardo Salviati Alessandro P. Burlina |
| author_sort | Alberto B. Burlina |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-12T01:42:22Z |
| format | Article |
| id | doaj.art-f8e8436e80d94bad98d696f444f3754c |
| institution | Directory Open Access Journal |
| issn | 2409-515X |
| language | English |
| last_indexed | 2024-04-12T01:42:22Z |
| publishDate | 2019-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Neonatal Screening |
| spelling | doaj.art-f8e8436e80d94bad98d696f444f3754c2022-12-22T03:53:10ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2019-06-01522410.3390/ijns5020024ijns5020024Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern ItalyAlberto B. Burlina0Giulia Polo1Laura Rubert2Daniela Gueraldi3Chiara Cazzorla4Giovanni Duro5Leonardo Salviati6Alessandro P. Burlina7Division of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening, Department of Women and Children’s Health, University Hospital of Padova, Via Orus 2/B, 35129 Padova, ItalyDivision of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening, Department of Women and Children’s Health, University Hospital of Padova, Via Orus 2/B, 35129 Padova, ItalyDivision of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening, Department of Women and Children’s Health, University Hospital of Padova, Via Orus 2/B, 35129 Padova, ItalyDivision of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening, Department of Women and Children’s Health, University Hospital of Padova, Via Orus 2/B, 35129 Padova, ItalyDivision of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening, Department of Women and Children’s Health, University Hospital of Padova, Via Orus 2/B, 35129 Padova, ItalyInstitute of Biomedicine and Molecular Immunology (IBIM), National Research Council, Via Ugo La Malfa, 153-90146 Palermo, ItalyClinical Genetics Unit, Department of Women’s and Children’s Health, University of Padova, Via Giustiniani 3, 35128 Padova, ItalyNeurological Unit, St. Bassiano Hospital, Via dei Lotti 40, 36061 Bassano del Grappa, ItalyThe 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.https://www.mdpi.com/2409-515X/5/2/24lysosomal expanded newborn screeningPompe diseaseFabry diseaseGaucher diseaseMPS Ibiomarkerssecond-tier testGAGslysoGb1lysoGb3 |
| spellingShingle | Alberto B. Burlina Giulia Polo Laura Rubert Daniela Gueraldi Chiara Cazzorla Giovanni Duro Leonardo Salviati Alessandro P. Burlina Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy International Journal of Neonatal Screening lysosomal expanded newborn screening Pompe disease Fabry disease Gaucher disease MPS I biomarkers second-tier test GAGs lysoGb1 lysoGb3 |
| title | Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy |
| title_full | Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy |
| title_fullStr | Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy |
| title_full_unstemmed | Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy |
| title_short | Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy |
| title_sort | implementation of second tier tests in newborn screening for lysosomal disorders in north eastern italy |
| topic | lysosomal expanded newborn screening Pompe disease Fabry disease Gaucher disease MPS I biomarkers second-tier test GAGs lysoGb1 lysoGb3 |
| url | https://www.mdpi.com/2409-515X/5/2/24 |
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