{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T05:37:04Z","timestamp":1783489024014,"version":"3.55.0"},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"3","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:sec>\n<jats:title><jats:italic>Objective:<\/jats:italic><\/jats:title>\n<jats:p>Congenital hypothyroidism (CH) is defined as thyroid hormone deficiency at birth due to disorders of the thyroid gland (thyroidal CH, CH-T), or the hypothalamus or pituitary (central CH, CH-C). The Dutch Newborn Screening (NBS) strategy is primarily based on determination of thyroxine (T4) concentrations in dried blood spots followed, if necessary, by thyroid-stimulating hormone (TSH) and thyroxine-binding globulin (TBG) measurement enabling detection of both CH-T and CH-C. A calculated T4\/TBG ratio serves as an indirect measure for free T4. A T4\/TBG ratio \u2264 17 in a second heel puncture is suggestive of CH-C.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title><jats:italic>Design and methods:<\/jats:italic><\/jats:title>\n<jats:p>In the present study, we evaluated 11 years of Dutch CH NBS using a database of referred cases by assessing the contribution of each criterion in the unique stepwise T4-TSH-TBG NBS algorithm.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title><jats:italic>Results:<\/jats:italic><\/jats:title>\n<jats:p>Between 2007 and the end of 2017, 1 963 465 newborns were screened in the Netherlands. Use of the stepwise algorithm led to 3044 referrals and the identification of 612 CH cases, consisting of 496 CH-T, 86 CH-C, and 30 CH of unknown origin diagnoses. We detected 62.8% of CH-C cases by the T4\/TBG ratio in the second heel puncture. The positive predictive value (PPV) of the stepwise T4-TSH-TBG NBS algorithm was 21.0%.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title><jats:italic>Conclusion:<\/jats:italic><\/jats:title>\n<jats:p>This evaluation shows that the Dutch stepwise T4-TSH-TBG NBS algorithm with a calculated T4\/TBG ratio is of great value for the detection of both CH-T and CH-C in the Netherlands, at the cost of a lower PPV compared to TSH-based NBS strategies.<\/jats:p>\n<\/jats:sec>","DOI":"10.1530\/eje-19-1048","type":"journal-article","created":{"date-parts":[[2020,6,19]],"date-time":"2020-06-19T16:08:18Z","timestamp":1592582898000},"page":"265-273","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-7","source":"Crossref","is-referenced-by-count":20,"title":["Critical evaluation of the newborn screening for congenital hypothyroidism in the Netherlands"],"prefix":"10.1093","volume":"183","author":[{"given":"Kevin","family":"Stroek","sequence":"first","affiliation":[{"name":"1Endocrinology Laboratory, Department of Clinical Chemistry, Amsterdam Gastroenterology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annemieke C","family":"Heijboer","sequence":"additional","affiliation":[{"name":"1Endocrinology Laboratory, Department of Clinical Chemistry, Amsterdam Gastroenterology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands"},{"name":"2Endocrinology Laboratory, Department of Clinical Chemistry, Amsterdam Gastroenterology & Metabolism, Amsterdam UMC, Vrije Universiteit, Amsterdam, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marelle J","family":"Bouva","sequence":"additional","affiliation":[{"name":"3Reference Laboratory Neonatal Screening, Center for Health protection, National Institute for Public Health and the Environment, Bilthoven, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catharina P B","family":"van der Ploeg","sequence":"additional","affiliation":[{"name":"4Netherlands Organization for Applied Scientific Research TNO, Department of Child Health, Leiden, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Louise A","family":"Heijnen","sequence":"additional","affiliation":[{"name":"5Center for Population Screening, National Institute for Public Health and the Environment, Bilthoven, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gert","family":"Weijman","sequence":"additional","affiliation":[{"name":"6Department of Vaccine Supply and Prevention, National Institute for Public Health and the Environment, Bilthoven, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annet M","family":"Bosch","sequence":"additional","affiliation":[{"name":"7Division of Metabolic Disorders, Department of Pediatrics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"de Jonge","sequence":"additional","affiliation":[{"name":"8Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit & University of Amsterdam, Amsterdam, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter C J I","family":"Schielen","sequence":"additional","affiliation":[{"name":"3Reference Laboratory Neonatal Screening, Center for Health protection, National Institute for Public Health and the Environment, Bilthoven, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A S Paul","family":"van Trotsenburg","sequence":"additional","affiliation":[{"name":"9Department of Paediatric Endocrinology, Emma Children\u2019s Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Boelen","sequence":"additional","affiliation":[{"name":"1Endocrinology Laboratory, Department of Clinical Chemistry, Amsterdam Gastroenterology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","container-title":["European Journal of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/183\/3\/EJE-19-1048.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/eje.bioscientifica.com\/downloadpdf\/journals\/eje\/183\/3\/EJE-19-1048.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T16:14:23Z","timestamp":1676391263000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/183\/3\/265\/6653767"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9]]},"references-count":0,"journal-issue":{"issue":"3"},"URL":"https:\/\/doi.org\/10.1530\/eje-19-1048","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,9]]}}}