Critical evaluation of the newborn screening for congenital hypothyroidism in the Netherlands. Issue 3 (September 2020)

• Record Type: Journal Article
• 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
• Is Part Of: European journal of endocrinology. Volume 183:Issue 3(2020)
• Page Start: 265
• Page End: 273
• Publication Date: 2020-09
• Subjects: Endocrinology -- Periodicals; 616.4005
• DOI: 10.1530/EJE-19-1048
• Languages: English
• ISSNs: 0804-4643

Abstract

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.