OBJECTIVES: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders resulting from a congenital deficiency of an enzyme necessary for glucocorticoid biosynthesis in the adrenal glands. In Japan, population-based newborn screening (NBS) for CAH has been conducted since 1989, aiming for preventing life-threatening salt-wasting crisis, incorrect sex assignments, and mortality. The objective was to assess the cost-effectiveness of NBS for CAH in the Japanese newborn population.

METHODS: We compared the NBS strategy for CAH with no screening in the Japanese newborn cohort. We performed a model-based economic evaluation with the decision tree and Markov models to estimate lifetime costs and outcomes from the healthcare payer’s perspective in Japan. The incremental cost-effectiveness ratio (ICER) was calculated by quality-adjusted life year (QALY) and screening and healthcare costs.

RESULTS: The number of detected CAH in the cohort of 770,759 was 47.1 (incident rate 1:16,364). 111.3 participants were retested as false positives. Compared with no screening, the incremental cost of the NBS strategy was 854 Japanese yen, and incremental effects were 0.0002 QALY gained. The ICER for NBS versus no screening strategy was 3,958,224 JPY per QALY gained. Incidence rate, NBS test cost, and salt-wasting proportion affected ICER by one-way sensitivity analysis.

CONCLUSIONS: The NBS strategy for CAH was more cost-effective than the strategy without screening. However, uncertainty remains in the analysis because of the limited parameters available regarding the effectiveness of screening.