Economic evaluation of prenatal population screening for fragile X syndrome

OBJECTIVES: This paper models costs and benefits of a population screening programme for pregnant women to detect fragile X syndrome. Given the high lifetime costs of fragile X and the high sensitivity and specificity of testing, such a programme may seem attractive. METHODS: Economic evaluation. RESULTS: Our base case results indicate that such a programme seems close to cost neutral, so may indeed seem attractive for this reason. However, sensitivity analysis shows that assumptions regarding lifetime costs are crucial to results; our results suggest if lifetime costs are under AUD 2.5 million, costs of screening will exceed future costs avoided. CONCLUSIONS: Economic modelling of screening programmes reveals valuable information which might have an influence on the debate on the social value of a population screening programme for fragile X in pregnant women.