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

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 punc... Mehr ...

Verfasser: 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
Dokumenttyp: Artikel
Erscheinungsdatum: 2020
Reihe/Periodikum: European Journal of Endocrinology ; volume 183, issue 3, page 265-273 ; ISSN 0804-4643 1479-683X
Verlag/Hrsg.: Oxford University Press (OUP)
Schlagwörter: Endocrinology / General Medicine / Diabetes and Metabolism
Sprache: unknown
Permalink: https://search.fid-benelux.de/Record/base-27232148
Datenquelle: BASE; Originalkatalog
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Link(s) : http://dx.doi.org/10.1530/eje-19-1048

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.