Cost-effectiveness analysis of prenatal population-based fragile X carrier screening

Objective To investigate the cost-effectiveness of a widespread prenatal population-based fragile X carrier screening program. Study design A decision tree was designed comparing screening versus not screening for the fragile X mental retardation protein 1 premutation in all pregnant women. Baseline values included a prevalence of fragile X mental retardation protein 1 premutations of 3.3 per 1000, a premutation expansion rate of 11.3%, and a 99% sensitivity of the screening test. The cost of the screening test was varied from $75 to $300. A sensitivity analysis of the probabilities, utilities, and costs was performed. Results The screening strategy would lead to the identification of 80% of the fetuses affected by fragile X annually. Assuming the cost of $95 per test and only one child, the program would be cost effective at $14,858 per quality-adjusted life-year. The screening strategy remained cost effective up to $140 per test and 1 child per woman or for 2 children per woman up to a cost of $281 per test. Conclusion Population-based screening for the fragile X premutation may be both clinically desirable and cost effective. Prospective pilot studies of this screening modality are needed in the prenatal setting.