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- Title
Critical evaluation of the newborn screening for congenital hypothyroidism in the Netherlands.
- Authors
Stroek, Kevin; Heijboer, Annemieke C.; Bouva, Marelle J.; van der Ploeg, Catharina P. B.; Heijnen, Marie-Louise A.; Weijman, Gert; Bosch, Annet M.; de Jonge, Robert; Schielen, Peter C. J. I.; van Trotsenburg, A. S. Paul; Boelen, Anita
- Abstract
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.
- Subjects
NETHERLANDS; CONGENITAL hypothyroidism; NEWBORN screening; THYROID gland; ALGORITHMS; THYROID hormones; HYPOTHALAMUS
- Publication
European Journal of Endocrinology, 2020, Vol 183, Issue 3, p265
- ISSN
0804-4643
- Publication type
Article
- DOI
10.1530/EJE-19-1048