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.
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