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Is Newborn Screening the Ultimate Strategy to Reduce Diagnostic Delays in Pompe Disease? The Parent and Patient Perspective
Open AccessArticle

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

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Department of Human Genetics, Emory University, Atlanta, GA 30322, USA
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Georgia Department of Public Health, Atlanta, GA 30303, USA
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EGL Genetics, Tucker, GA 30084, USA
*
Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2020, 6(1), 2; https://doi.org/10.3390/ijns6010002
Received: 16 December 2019 / Revised: 6 January 2020 / Accepted: 10 January 2020 / Published: 14 January 2020
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.
Keywords: newborn screening; post-analytical tools; Pompe disease; mucopolysaccharidosis type I; pseudodeficiency newborn screening; post-analytical tools; Pompe disease; mucopolysaccharidosis type I; pseudodeficiency
MDPI and ACS Style

Hall, P.L.; Sanchez, R.; Hagar, A.F.; Jerris, S.C.; Wittenauer, A.; Wilcox, W.R. Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction. Int. J. Neonatal Screen. 2020, 6, 2.

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