Print Email Facebook Twitter Critical evaluation of the newborn screening for congenital hypothyroidism in the Netherlands Title Critical evaluation of the newborn screening for congenital hypothyroidism in the Netherlands Author Stroek, K. Heijboer, A.C. Bouva, M.J. van der Ploeg, C.P.B. Heijnen, M.L.A. Weijman, G. Bosch, A.M. de Jonge, R. Schielen, P.C.J.I. van Trotsenburg, A.S.P. Boelen, A. Publication year 2020 Abstract Objective: 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 ≤ 17 in a second heel puncture is suggestive of CH-C. Design and methods: 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. Results: 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%. Conclusion: 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. Chemicals / CAS thyrotropin, 9002-71-5; thyroxine, 7488-70-2 Subject NewbornScreeningAlgorithmsCongenital HypothyroidismDatabases, FactualFemaleHumansHypothalamusInfant, NewbornMaleNeonatal ScreeningNetherlandsPituitary GlandThyroid Function TestsThyroid Gland To reference this document use: http://resolver.tudelft.nl/uuid:652b72b8-0fbb-436a-94f5-31bc2e585f3e DOI https://doi.org/10.1530/eje-19-1048 TNO identifier 878519 Source European Journal of Endocrinology, 183 (3), 265-273 Bibliographical note authors copy Document type article Files To receive the publication files, please send an e-mail request to TNO Library.