{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T18:20:39Z","timestamp":1781115639190,"version":"3.54.1"},"reference-count":46,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2023,2,27]],"date-time":"2023-02-27T00:00:00Z","timestamp":1677456000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000030","name":"CDC collaborative agreement","doi-asserted-by":"publisher","award":["CDC-RFA-EH18-1804"],"award-info":[{"award-number":["CDC-RFA-EH18-1804"]}],"id":[{"id":"10.13039\/100000030","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>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\u2019s 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.<\/jats:p>","DOI":"10.3390\/ijns9010011","type":"journal-article","created":{"date-parts":[[2023,3,6]],"date-time":"2023-03-06T03:02:32Z","timestamp":1678071752000},"page":"11","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Harmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I"],"prefix":"10.3390","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7924-8521","authenticated-orcid":false,"given":"M. Christine","family":"Dorley","sequence":"first","affiliation":[{"name":"Tennessee Department of Health, Division of Laboratory Services, Nashville, TN 37243, USA"},{"name":"College of Health Sciences & Public Policy, Walden University, Minneapolis, MN 55401, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3581-6651","authenticated-orcid":false,"given":"George J.","family":"Dizikes","sequence":"additional","affiliation":[{"name":"Tennessee Department of Health, Division of Laboratory Services, Knoxville, TN 37920, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1632-5777","authenticated-orcid":false,"given":"Charles Austin","family":"Pickens","sequence":"additional","affiliation":[{"name":"Division of Laboratory Sciences, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Cuthbert","sequence":"additional","affiliation":[{"name":"Division of Laboratory Sciences, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khaja","family":"Basheeruddin","sequence":"additional","affiliation":[{"name":"Illinois Department of Public Health, Chicago, IL 60612, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fizza","family":"Gulamali-Majid","sequence":"additional","affiliation":[{"name":"Maryland Department of Health, Baltimore, MD 21205, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Hetterich","sequence":"additional","affiliation":[{"name":"Virginia Department of General Services, Division of Consolidated Laboratory Services, Richmond, VA 23219, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Hietala","sequence":"additional","affiliation":[{"name":"Minnesota Department of Health, St. Paul, MN 55155, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashley","family":"Kelsey","sequence":"additional","affiliation":[{"name":"Michigan Department of Health & Human Services, Lansing, MI 48906, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracy","family":"Klug","sequence":"additional","affiliation":[{"name":"Missouri State Public Health Laboratory, Jefferson City, MO 65101, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Lesko","sequence":"additional","affiliation":[{"name":"Department of Pathology, Indiana University, Indianapolis, IN 46202, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle","family":"Mills","sequence":"additional","affiliation":[{"name":"Kansas Health and Environmental Laboratories, Topeka, KS 66620, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shawn","family":"Moloney","sequence":"additional","affiliation":[{"name":"Michigan Department of Health & Human Services, Lansing, MI 48906, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Partha","family":"Neogi","sequence":"additional","affiliation":[{"name":"California Department of Public Health, Richmond, CA 94804, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Orsini","sequence":"additional","affiliation":[{"name":"Wadsworth Center, New York State Department of Health, Albany, NY 12208, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas","family":"Singer","sequence":"additional","affiliation":[{"name":"Ohio Department of Health, Reynoldsburg, OH 43068, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8660-8532","authenticated-orcid":false,"given":"Konstantinos","family":"Petritis","sequence":"additional","affiliation":[{"name":"Division of Laboratory Sciences, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,2,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1002\/bdr2.1653","article-title":"Mandatory newborn screening in the United States: History, current status, and existential challenges","volume":"110","author":"McCandless","year":"2020","journal-title":"Birth Defects Res."},{"key":"ref_2","unstructured":"(2021, February 24). 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