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Neonatal Screening for Congenital Adrenal Hyperplasia in Denmark: 10 Years of Experience

Research output: Contribution to journalJournal articlepeer-review


  • Marie Lind-Holst
  • Marie Bækvad-Hansen
  • Agnethe Berglund
  • Arieh S Cohen
  • Lars Melgaard
  • Kristin Skogstrand
  • Morten Duno
  • Katharina M Main
  • David Michael Hougaard
  • Claus Højbjerg Gravholt
  • Dorte Hansen
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INTRODUCTION: Early detection of salt-wasting congenital adrenal hyperplasia (SW-CAH) is important to reduce CAH-related morbidity. However, neonatal screening has shown to have a low positive predictive value (PPV), especially among preterm newborns. Here, the Danish CAH screening is evaluated by comparing incidence and morbidity of SW-CAH 10 years before and after introduction of screening. Furthermore, sensitivity, specificity, and PPV are determined.

METHODS: All newborns in Denmark born during 1999-2018 and diagnosed with SW-CAH were identified in the Danish National Patient Registry and/or at the Department of Clinical Genetics, Rigshospitalet. Newborns with a positive neonatal CAH screening were identified at Statens Serum Institut. Correct diagnosis was evaluated by medical record review.

RESULTS: A total of 65 newborns with SW-CAH were identified. The incidence of SW-CAH was 5:100,000 both before and after introduction of screening. Performance of sensitivity and specificity of the screening were 97% and 100%, respectively, and the PPV was 55% for the given period. Stratified according to gestational age, the PPV was 33% and 61% for pre -and fullterm newborns, respectively. Though not significant, the proportion of newborns presenting with SW-crisis decreased after introduction of screening from 29% versus 10% (p = 0.07).

DISCUSSION AND CONCLUSION: Neonatal screening for SW-CAH has not led to an increase in the incidence of newborns diagnosed with SW-CAH. The screening algorithm has effectively identified newborns with SW-CAH. After 2009, there was a tendency toward a lower proportion of newborns with SW-crisis at diagnosis. Finally, the study emphasizes the benefits of using second-tier screening as well as repeated screening of premature newborns.

Original languageEnglish
JournalHormone research in paediatrics
Issue number1
Pages (from-to)35-42
Number of pages8
Publication statusPublished - 2022

Bibliographical note

© 2022 S. Karger AG, Basel.

    Research areas

  • 17-alpha-Hydroxyprogesterone, Adrenal Hyperplasia, Congenital/diagnosis, Denmark/epidemiology, Female, Humans, Infant, Newborn, Male, Neonatal Screening, Retrospective Studies

ID: 79164159