Clinical impact and cost efficacy of newborn screening for congenital adrenal hyperplasia
Abstract
Objectives To evaluate the clinical impact of a congenital adrenal hyperplasia (CAH) newborn screening program and incremental costs relative to benefits in screened vs unscreened infants. We hypothesized that screening would lead to clinical benefits and would be cost effective.Study design This was an ambispective cohort study at British Columbia Children's Hospital, including infants diagnosed with CAH from 1988-2008 and 2010-2018. Data were collected retrospectively (unscreened cohort) and prospectively (screened cohort). Outcome measures included hospitalization, medical transport, and resuscitation requirements. The economic analysis was performed using a public payer perspective.Results Forty unscreened and 17 screened infants were diagnosed with CAH (47% vs 53% male). Median days to positive screen was 6 and age at diagnosis was 5 days (range, 0-30 days) and 6 days (range, 0-13 days) in unscreened and screened populations, respectively. In unscreened newborns, 55% required transport to a tertiary care hospital, 85% required hospitalization, and 35% required a fluid bolus compared with 29%, 29%, and 12% in screened infants, respectively. The cost of care was $33 770 per case in unscreened vs $17 726 in screened newborns. In the screened cohort, the incremental cost-effectiveness ratio was $290 in the best case analysis and $4786 in the base case analysis, per hospital day avoided.Conclusions Compared with unscreened newborns, those screened for CAH were less likely to require medical transport and had shorter hospital stays. Screening led to a decrease in hospitalization costs. Although screening did not result in cost savings, it was assessed to be cost effective considering the clinical benefits and incremental cost-effectiveness ratio.
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Infant deaths from CAH are now rare (0-4%) in advanced economies even without screening.
“Nevertheless, infant deaths from CAH are now rare (0-4%) in advanced economies even without screening (244,245).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [245]
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Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
Claahsen - van der Grinten, H. L., Speiser, P. W., Ahmed, S. F., Arlt, W., Auchus, R. J., Falhammar, H., Flück, C. E., Guasti, L., Huebner, A., Kortmann, B. B. M., et al. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnab016 · Cited by 556 · see citing works
- Authors
- Fox, D. A., Ronsley, R., Khowaja, A. R., Haim, A., Vallance, H., Sinclair, G., & Amed, S.
- Affiliations
- University of British Columbia (CA)
- Ben-Gurion University of the Negev (IL)
- BC Children's Hospital (CA)
- Corresponding author
- Fox, Danya A.
- ORCID
- Venue
- The Journal of Pediatrics
- Publisher
- Elsevier BV
- Published
- 2020-05
- Volume
- 220
- Pages
- 101-108.e2
- ISSN
- 0022-3476 (ISSN-L)
- OpenAlex
- W3004826111
- Cited by
- 28
- References
- 29
- Citations by year
- 2026: 3 · 2025: 1 · 2024: 5 · 2023: 2 · 2022: 2 · 2021: 8 · 2020: 7
- FWCI
- 1.54
- Type
- journal article
- Language
- en
- Update notices
- erratum (2020-06-01)
- Open access
- closed
- Locations
- The Journal of Pediatrics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Department of Pediatrics Resident Research
- University of British Columbia
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- congenital adrenal hyperplasia, newborn screening, cost-effectiveness, hospital costs, medical transport, fluid bolus, early diagnosis, incremental cost-effectiveness ratio
- MeSH terms
- Adrenal Hyperplasia, Congenital, British Columbia, Cost-Benefit Analysis, Female, Fluid Therapy, Hospitalization, Humans, Infant, Newborn, Length of Stay, Male, Transportation of Patients, Cohort Studies, Neonatal Screening
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