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- Title
Harmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I.
- Authors
Dorley, M. Christine; Dizikes, George J.; Pickens, Charles Austin; Cuthbert, Carla; Basheeruddin, Khaja; Gulamali-Majid, Fizza; Hetterich, Paul; Hietala, Amy; Kelsey, Ashley; Klug, Tracy; Lesko, Barbara; Mills, Michelle; Moloney, Shawn; Neogi, Partha; Orsini, Joseph; Singer, Douglas; Petritis, Konstantinos
- Abstract
In newborn screening, false-negative results can be disastrous, leading to disability and death, while false-positive results contribute to parental anxiety and unnecessary follow-ups. Cutoffs are set conservatively to prevent missed cases for Pompe and MPS I, resulting in increased falsepositive results and lower positive predictive values. Harmonization has been proposed as a way to minimize false-negative and false-positive results and correct for method differences, so we harmonized enzyme activities for Pompe and MPS I across laboratories and testing methods (Tandem Mass Spectrometry (MS/MS) or Digital Microfluidics (DMF)). Participating states analyzed proofof- concept calibrators, blanks, and contrived specimens and reported enzyme activities, cutoffs, and other testing parameters to Tennessee. Regression and multiples of the median were used to harmonize the data. We observed varied cutoffs and results. Six of seven MS/MS labs reported enzyme activities for one specimen for MPS I marginally above their respective cutoffs with results classified as negative, whereas all DMF labs reported this specimen's enzyme activity below their respective cutoffs with results classified as positive. Reasonable agreement in enzyme activities and cutoffs was achieved with harmonization; however, harmonization does not change how a value would be reported as this is dependent on the placement of cutoffs.
- Subjects
UNITED States; CLINICAL pathology; NEWBORN screening; REFERENCE values; HIGH performance liquid chromatography; INDUSTRIAL property; REGRESSION analysis; MUCOPOLYSACCHARIDOSIS I; INBORN errors of carbohydrate metabolism; MASS spectrometry; QUALITY assurance; RESEARCH funding; DESCRIPTIVE statistics; QUALITY control; DIAGNOSTIC errors; MICROFLUIDICS; DATA analysis software
- Publication
International Journal of Neonatal Screening (IJNS), 2023, Vol 9, Issue 1, p11
- ISSN
2409-515X
- Publication type
Article
- DOI
10.3390/ijns9010011