Purpose: We conducted both benefit-cost analysis (BCA) and cost-effectiveness analysis (CEA) of screening infants for classic congenital adrenal hyperplasia (CAH), in line with an Office of Management and Budget (OMB) recommendation. Currently, newborn screening for CAH has been implemented by more than half of all states in the United States.

Methods: The primary justification for newborn screening for CAH is the prevention of acute salt-wasting crises that carry an elevated risk of death. Since CAH is a rare disorder (~1 in 20,000) and documented CAH mortality is uncommon (<10%), the number of deaths prevented by screening newborns for CAH is not known. For a range of estimates of mortality, we calculated incremental cost-effectiveness ratios (ICERs) and threshold levels of value of statistical life (VSL) required to make net benefits equal to zero. Because of uncertainty regarding the mortality rate and treatment effects, probabilistic CEAs were conducted. All estimates are reported in $US 2000 values using a 3% discount rate.

Results: Our results indicate that the ICER of CAH screening varies with prevalence as well as mortality rate and treatment effectiveness. In a probabilistic analysis in which mortality in untreated salt-wasting CAH is assumed to vary between 2% and 9%, the ICER is $120,000 per discounted life-year saved and the threshold VSL is $3.6 million. In a best case scenario, assuming 9% mortality and 95% treatment effectiveness, the ICER is $49,000 per life-year and the threshold VSL is $2.1 million.

Conclusions: We conclude that screening for CAH may not meet a cost-effectiveness threshold of between $50,000 and $100,000 per discounted life-year saved, except under favorable assumptions. On the other hand, for VSL of $4.0 million or greater, screening for CAH is likely to yield net economic benefit. Thus, different methods of economic evaluation, associated with differing cutoffs, can yield divergent conclusions. A complete economic evaluation of newborn screening for CAH would require data on preferences relative to other health states. In particular, early detection of virilization and the opportunity to prevent short stature are important screening outcomes, and their inclusion could improve estimates of value for money from CAH newborn screening, whether through willingness-to-pay in BCA or health-related quality of life in CEA.