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

in European Journal of Endocrinology
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  • 1 Endocrinology Laboratory, Department of Clinical Chemistry, Amsterdam Gastroenterology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands
  • 2 Endocrinology Laboratory, Department of Clinical Chemistry, Amsterdam Gastroenterology & Metabolism, Amsterdam UMC, Vrije Universiteit, Amsterdam, the Netherlands
  • 3 Reference Laboratory Neonatal Screening, Center for Health protection, National Institute for Public Health and the Environment, Bilthoven, the Netherlands
  • 4 Netherlands Organization for Applied Scientific Research TNO, Department of Child Health, Leiden, the Netherlands
  • 5 Center for Population Screening, National Institute for Public Health and the Environment, Bilthoven, the Netherlands
  • 6 Department of Vaccine Supply and Prevention, National Institute for Public Health and the Environment, Bilthoven, the Netherlands
  • 7 Division of Metabolic Disorders, Department of Pediatrics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands
  • 8 Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit & University of Amsterdam, Amsterdam, the Netherlands
  • 9 Department of Paediatric Endocrinology, Emma Children’s Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands

Correspondence should be addressed to A Boelen; Email: a.boelen@amsterdamumc.nl
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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.

 

     European Society of Endocrinology

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