Clinical Impact and Cost Efficacy of Newborn Screening for Congenital Adrenal Hyperplasia

Danya A. Fox, Rebecca Ronsley, Asif R. Khowaja, Alon Haim, Hilary Vallance, Graham Sinclair, Shazhan Amed

    Research output: Contribution to journalArticlepeer-review

    16 Scopus citations


    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.

    Original languageEnglish
    Pages (from-to)101-108.e2
    JournalJournal of Pediatrics
    StatePublished - 1 May 2020


    • economic analysis
    • mass spectrometry

    ASJC Scopus subject areas

    • Pediatrics, Perinatology, and Child Health


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