Critical evaluation of the newborn screening for congenital hypothyroidism in the Netherlands

Kevin Stroek, Annemieke C. Heijboer, Marelle J. Bouva, Catharina P.B. van der Ploeg, Marie Louise A. Heijnen, Gert Weijman, Annet M. Bosch, Robert de Jonge, Peter C.J.I. Schielen, A. S.Paul van Trotsenburg, Anita Boelen*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Objective: Congenital hypothyroidism (CH) is defined as thyroid hormone de ficiency at birth due to disorders of the thyroid gland (thyroidal CH, CH-T), or the hypothalamus or pitu itary (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 thyroxin e-binding globulin (TBG) measurement enabling detection of both CH-T and CH-C. A calculated T4/TBG ratio serv es 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 us ing a database of referred cases by assessing the contribution of each criterion in the unique s tepwise T4-TSH-TBG NBS algorithm. Results: Between 2007 and the end of 2017, 1 963 465 newborns were scre ened 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 ca ses by the T4/TBG ratio in the second heel puncture. The positive predictive value (PPV) of the stepwise T 4-TSH-TBG NBS algorithm was 21.0%. Conclusion: This evaluation shows that the Dutch stepwise T4-TSH-TBG NBS a lgorithm with a calculated T4/TBG ratio is of great value for the detection of both CH-T and CH-C in the N etherlands, at the cost of a lower PPV compared to TSHbased NBS strategies.

Original languageEnglish
Pages (from-to)265-273
Number of pages9
JournalEuropean Journal of Endocrinology
Issue number3
Publication statusPublished - Sep 2020

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