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Original article
Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia
  1. Annelieke A A van der Linde1,2,
  2. Yvonne Schönbeck3,
  3. Hetty J van der Kamp4,
  4. Erica L T van den Akker5,
  5. Mirjam E van Albada6,
  6. Anita Boelen7,
  7. Martijn J J Finken8,
  8. Sabine E Hannema5,9,
  9. Gera Hoorweg-Nijman10,
  10. Roelof J Odink11,
  11. Peter C J I Schielen12,
  12. Saartje Straetemans13,
  13. Paul S van Trotsenburg14,
  14. Hedi L Claahsen-van der Grinten1,
  15. Paul H Verkerk3
  1. 1 Department of Paediatric Endocrinology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
  2. 2 Department of Paediatrics, Amphia Hospital, Breda, The Netherlands
  3. 3 TNO, Department of Child Health, Leiden, The Netherlands
  4. 4 Department of Paediatrics, Utrecht University Hospital, Utrecht, The Netherlands
  5. 5 Department of Paediatric Endocrinology, Erasmus MC, Rotterdam, The Netherlands
  6. 6 Department of Paediatrics, University Medical Centre, Groningen, The Netherlands
  7. 7 Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands
  8. 8 Department of Paediatrics, VU University Medical Centre, Amsterdam, The Netherlands
  9. 9 Department of Paediatrics, Leiden University Medical Centre, Leiden, The Netherlands
  10. 10 Department of Paediatrics, St Antonius Hospital, Nieuwegein, The Netherlands
  11. 11 Department of Paediatrics, Catharina Hospital, Eindhoven, The Netherlands
  12. 12 Reference Laboratory for Neonatal Screening, Centre for Health Protection Research, National Institute for Public Health and the Environment, Bilthoven, The Netherlands
  13. 13 Department of Paediatrics, MUMC, Maastricht, The Netherlands
  14. 14 Department of Paediatric Endocrinology, Emma Children’s Hospital Academic Medical Center, Amsterdam University Medical Center, location University of Amsterdam, Amsterdam, The Netherlands
  1. Correspondence to Annelieke A A van der Linde, Department of Paediatric Endocrinology, Radboud University Medical Centre, Radboud Institute for Molecular Life Sciences, Amalia Children’s Hospital, Nijmegen, HB 6500, The Netherlands; annelieke.vanderlinde{at}radboudumc.nl

Abstract

Background In 2002, a nationwide screening for congenital adrenal hyperplasia (CAH) was introduced in the Netherlands. The aim of our study is to evaluate the validity of the neonatal screening for CAH and to assess how many newborns with salt-wasting (SW) CAH have already been clinically diagnosed before the screening result was known.

Methods Retrospective, descriptive study. The following data of patients with positive screening results since implementation of the screening programme were collected (1 January 2002 up until 31 December 2013): gestational age, sex, diagnosis, clinical presentation and contribution of screening to the diagnosis.

Results In the evaluated period, 2 235 931 newborns were screened. 479 children had an abnormal screening result, 133 children were diagnosed with CAH (114 SW, 14 simple virilizing (SV)), five non-classic CAH. During this period, no patients with SW CAH were missed by neonatal screening (sensitivity was 100%). After exclusion of 17 cases with missing information on diagnosis, specificity was 99.98% and positive predictive value was 24.7%. Most false positives (30%) were attributable to prematurity. Of patients with SW CAH, 68% (71/104) patients were detected by neonatal screening and 33 (33/104) were clinically diagnosed. Of girls with SW CAH, 38% (14/37) were detected by neonatal screening and 62% (23/37) were clinically diagnosed.

Conclusion The Dutch neonatal screening has an excellent sensitivity and high specificity. Both boys and girls can benefit from neonatal screening.

  • neonatal screening
  • endocrinology
  • congenital adrenal hyperplasia

https://doi.org/10.1136/archdischild-2018-315972

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    Footnotes

    • Contributors AvdL, HCvdG and PV drafted the initial manuscript and reviewed and revised the manuscript. YS carried out the statistical analyses and reviewed and revised the manuscript. All authors are members of the Dutch Advisory board on neonatal screening for CAH. The paediatric endocrinologists in this advisory board, HvdK, EvdA, MvA, MF, SH, GH-N, RO, SS, PvT provided data of the children with abnormal screening results in the national registry and reviewed and revised the manuscript. AB and PS critically reviewed the manuscript for intellectual content. All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent Not required.

    • Provenance and peer review Not commissioned; externally peer reviewed.