Machine learning to improve false-positive results in the Dutch newborn screening for congenital hypothyroidism.

Journal: Clinical biochemistry
PMID: 36878346

Abstract

OBJECTIVE: The Dutch Congenital hypothyroidism (CH) Newborn Screening (NBS) algorithm for thyroidal and central congenital hypothyroidism (CH-T and CH-C, respectively) is primarily based on determination of thyroxine (T4) concentrations in dried blood spots, followed by thyroid-stimulating hormone (TSH) and thyroxine-binding globulin (TBG) measurements enabling detection of both CH-T and CH-C, with a positive predictive value (PPV) of 21%. A calculated T4/TBG ratio serves as an indirect measure for free T4. The aim of this study is to investigate whether machine learning techniques can help to improve the PPV of the algorithm without missing the positive cases that should have been detected with the current algorithm.

Authors

  • Kevin Stroek
    Endocrine Laboratory, Department of Clinical Chemistry, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Allerdien Visser
    Department of Clinical Chemistry, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, Vrije Universiteit, Amsterdam, The Netherlands.
  • Catharina P B van der Ploeg
    Netherlands Organization for Applied Scientific Research TNO, Department of Child Health, Leiden, The Netherlands.
  • Nitash Zwaveling-Soonawala
    Department of Paediatric Endocrinology, Emma Children's Hospital, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Annemieke C Heijboer
    Endocrine Laboratory, Department of Clinical Chemistry, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; Endocrine Laboratory, Department of Clinical Chemistry, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, Vrije Universiteit, Amsterdam, The Netherlands.
  • Annet M Bosch
    Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • A S Paul van Trotsenburg
    Department of Paediatric Endocrinology, Emma Children's Hospital, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Anita Boelen
    Endocrine Laboratory, Department of Clinical Chemistry, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Mark Hoogendoorn
    Vrije Universiteit Amsterdam, Department of Computer Science, De Boelelaan 1081, Amsterdam 1081 HV, The Netherlands.
  • Robert de Jonge
    Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit & University of Amsterdam, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam, The Netherlands. Electronic address: r.dejonge1@amsterdamumc.nl.

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