{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T11:53:34Z","timestamp":1779191614332,"version":"3.51.4"},"reference-count":25,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2014,6,27]],"date-time":"2014-06-27T00:00:00Z","timestamp":1403827200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2014,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>There have been few reports of cases missed by expanded newborn screening. Tandem mass spectrometry was introduced in New South Wales, Australia in 1998 to screen for selected disorders of amino acid, organic acid and fatty acid metabolism. Of 1,500,000 babies screened by 2012, 1:2700 were diagnosed with a target disorder. Fifteen affected babies were missed by testing, and presented clinically or in family studies. In three cases (cobalamin C defect, very\u2010long\u2010chain acyl\u2010CoA dehydrogenase deficiency and glutaric aciduria type 1), this led to modification of analyte cut\u2010off values or protocols during the first 3 years. Two patients with intermittent MSUD, two with \u03b2\u2010ketothiolase deficiency, two with citrin deficiency, two siblings with arginosuccinic aciduria, two siblings with homocystinuria, and one with cobalamin C defect had analyte values and ratios below the action limits which could not have been detected without unacceptable false\u2010positive rates. A laboratory interpretation error led to missing one case of cobalamin C defect. Reference ranges, regularly reviewed, were not altered. For citrin deficiency, while relevant metabolites are detectable by tandem mass spectrometry, our cut\u2010off values do not specifically screen for that disorder. Most of the missed cases are doing well and with no acute presentations although eight of 15 are likely to have been somewhat adversely affected by a late diagnosis. Analyte ratio and cut\u2010off value optimisations are important, but for some disorders occasional missed cases may have to be tolerated to maintain an acceptable specificity, and avoid harm from screening.<\/jats:p>","DOI":"10.1007\/s10545-014-9727-2","type":"journal-article","created":{"date-parts":[[2014,6,26]],"date-time":"2014-06-26T14:44:15Z","timestamp":1403793855000},"page":"881-887","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":52,"title":["Expanded newborn screening in New South Wales: missed cases"],"prefix":"10.1002","volume":"37","author":[{"given":"Jane","family":"Estrella","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Westmead Hospital Sydney Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bridget","family":"Wilcken","sequence":"additional","affiliation":[{"name":"Department of Newborn Screening The Children's Hospital at Westmead Hawkesbury Road 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