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. van Trotsenburg, Anita Boelen
2020 European Journal of Endocrinology  
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
more » ... ed 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 eleven 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 3,044 referrals and the identification of 612 CH cases, consisting of 496 CH-T, 86 CH-C, and 30 CH of unknown origin diagnoses. 62.8% of CH-C cases were detected 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.
doi:10.1530/eje-19-1048 pmid:32580148 fatcat:zpcre2e7lnhkpdymgn7g5xue6a