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

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

Research output: Contribution to journalJournal articleResearchpeer-review

43 Downloads (Pure)


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
Publication statusPublished - 1. May 2022


  • 17-alpha-Hydroxyprogesterone
  • Adrenal Hyperplasia, Congenital/diagnosis
  • Denmark/epidemiology
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Neonatal Screening
  • Retrospective Studies
  • Congenital adrenal hyperplasia screening
  • Liquid chromatography with tandem mass spectrometry
  • Screening for congenital adrenal hyperplasia
  • Newborn screening
  • 21-Hydroxylase deficiency
  • Genetic diseases
  • 17-Hydroxyprogesterone


Dive into the research topics of 'Neonatal Screening for Congenital Adrenal Hyperplasia in Denmark: 10 Years of Experience'. Together they form a unique fingerprint.

Cite this