Cargando…

Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction

We conducted a pilot newborn screening (NBS) study for Pompe disease (PD) and mucopolysaccharidosis type I (MPS I) in the multiethnic population of Georgia. We screened 59,332 infants using a two-tier strategy of flow injection tandem mass spectrometry (FIA-MSMS) enzyme assays. The first tier of tes...

Descripción completa

Detalles Bibliográficos
Autores principales: Hall, Patricia L., Sanchez, Rossana, Hagar, Arthur F., Jerris, S. Caleb, Wittenauer, Angela, Wilcox, William R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7021244/
https://www.ncbi.nlm.nih.gov/pubmed/32064362
http://dx.doi.org/10.3390/ijns6010002
_version_ 1783497863346520064
author Hall, Patricia L.
Sanchez, Rossana
Hagar, Arthur F.
Jerris, S. Caleb
Wittenauer, Angela
Wilcox, William R.
author_facet Hall, Patricia L.
Sanchez, Rossana
Hagar, Arthur F.
Jerris, S. Caleb
Wittenauer, Angela
Wilcox, William R.
author_sort Hall, Patricia L.
collection PubMed
description We conducted a pilot newborn screening (NBS) study for Pompe disease (PD) and mucopolysaccharidosis type I (MPS I) in the multiethnic population of Georgia. We screened 59,332 infants using a two-tier strategy of flow injection tandem mass spectrometry (FIA-MSMS) enzyme assays. The first tier of testing was a 2-plex assay measuring PD and MPS I enzyme activity, followed by a second-tier test with additional enzymes to improve specificity. Interpretation of results was performed using post-analytical tools created using Collaborative Laboratory Integrated Reports (CLIR). We identified a single case of infantile onset PD, two cases of late onset PD, and one pseudodeficiency. The positive predictive value (PPV) for PD screening during the study was 66.7%. No cases of MPS I were identified during the study period, but there were 2 confirmed cases of pseudodeficiency and 6 cases lost to follow up. The two-tier screening strategy was successful in reducing false positive results and allowed for the identification and early treatment of a case of infantile PD but the frequency of pseudodeficiency in MPS I is problematic. Molecular testing is required and should be covered by the screening program to avoid delays in case resolution.
format Online
Article
Text
id pubmed-7021244
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-70212442020-03-01 Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction Hall, Patricia L. Sanchez, Rossana Hagar, Arthur F. Jerris, S. Caleb Wittenauer, Angela Wilcox, William R. Int J Neonatal Screen Article We conducted a pilot newborn screening (NBS) study for Pompe disease (PD) and mucopolysaccharidosis type I (MPS I) in the multiethnic population of Georgia. We screened 59,332 infants using a two-tier strategy of flow injection tandem mass spectrometry (FIA-MSMS) enzyme assays. The first tier of testing was a 2-plex assay measuring PD and MPS I enzyme activity, followed by a second-tier test with additional enzymes to improve specificity. Interpretation of results was performed using post-analytical tools created using Collaborative Laboratory Integrated Reports (CLIR). We identified a single case of infantile onset PD, two cases of late onset PD, and one pseudodeficiency. The positive predictive value (PPV) for PD screening during the study was 66.7%. No cases of MPS I were identified during the study period, but there were 2 confirmed cases of pseudodeficiency and 6 cases lost to follow up. The two-tier screening strategy was successful in reducing false positive results and allowed for the identification and early treatment of a case of infantile PD but the frequency of pseudodeficiency in MPS I is problematic. Molecular testing is required and should be covered by the screening program to avoid delays in case resolution. MDPI 2020-01-14 /pmc/articles/PMC7021244/ /pubmed/32064362 http://dx.doi.org/10.3390/ijns6010002 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Hall, Patricia L.
Sanchez, Rossana
Hagar, Arthur F.
Jerris, S. Caleb
Wittenauer, Angela
Wilcox, William R.
Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction
title Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction
title_full Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction
title_fullStr Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction
title_full_unstemmed Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction
title_short Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction
title_sort two-tiered newborn screening with post-analytical tools for pompe disease and mucopolysaccharidosis type i results in performance improvement and future direction
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7021244/
https://www.ncbi.nlm.nih.gov/pubmed/32064362
http://dx.doi.org/10.3390/ijns6010002
work_keys_str_mv AT hallpatricial twotierednewbornscreeningwithpostanalyticaltoolsforpompediseaseandmucopolysaccharidosistypeiresultsinperformanceimprovementandfuturedirection
AT sanchezrossana twotierednewbornscreeningwithpostanalyticaltoolsforpompediseaseandmucopolysaccharidosistypeiresultsinperformanceimprovementandfuturedirection
AT hagararthurf twotierednewbornscreeningwithpostanalyticaltoolsforpompediseaseandmucopolysaccharidosistypeiresultsinperformanceimprovementandfuturedirection
AT jerrisscaleb twotierednewbornscreeningwithpostanalyticaltoolsforpompediseaseandmucopolysaccharidosistypeiresultsinperformanceimprovementandfuturedirection
AT wittenauerangela twotierednewbornscreeningwithpostanalyticaltoolsforpompediseaseandmucopolysaccharidosistypeiresultsinperformanceimprovementandfuturedirection
AT wilcoxwilliamr twotierednewbornscreeningwithpostanalyticaltoolsforpompediseaseandmucopolysaccharidosistypeiresultsinperformanceimprovementandfuturedirection