Related Experiment Video
Updated: Oct 4, 2025
Medium-throughput Screening Assays for Assessment of Effects on Ca2+-Signaling and Acrosome Reaction in Human Sperm
Published on: March 1, 2019
Neonatal Screening for Congenital Adrenal Hyperplasia in Denmark: 10 Years of Experience
Marie Lind-Holst1, Marie Bækvad-Hansen2, Agnethe Berglund3,4
1Department of Pediatrics, Hans Christian Andersen Children's Hospital, Odense University Hospital, University of Southern Denmark, Odense, Denmark.
Insights
Neonatal screening for salt-wasting congenital adrenal hyperplasia (SW-CAH) effectively identifies cases without increasing incidence. The study highlights improved outcomes and recommends tailored screening for premature infants.
Area of Science:
- Endocrinology
- Neonatal screening
- Public health
Background:
- Early detection of salt-wasting congenital adrenal hyperplasia (SW-CAH) is crucial for reducing morbidity.
- Neonatal screening for SW-CAH has limitations, particularly a low positive predictive value (PPV) in preterm infants.
Purpose of the Study:
- To evaluate the Danish SW-CAH screening program by comparing incidence and morbidity before and after its introduction.
- To determine the sensitivity, specificity, and PPV of the screening program.
Main Methods:
- Retrospective analysis of newborns diagnosed with SW-CAH in Denmark (1999-2018).
- Identification of screened newborns with positive results from Statens Serum Institut.
- Medical record review for diagnostic accuracy.
Main Results:
- The incidence of SW-CAH remained stable at 5:100,000.
- Screening demonstrated high sensitivity (97%) and specificity (100%), with an overall PPV of 55%.
- PPV was lower in preterm (33%) versus full-term (61%) newborns; a non-significant trend towards reduced SW-crisis at diagnosis was observed post-screening.
Conclusions:
- Neonatal screening for SW-CAH is effective in identifying affected newborns without altering incidence.
- The study supports the use of second-tier and repeated screening for premature infants to improve diagnostic yield and outcomes.
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.
