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Community Genet. 2005;8(2):68-72.

Economic evaluation of prenatal population screening for fragile X syndrome.

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  • 1Centre for Health Economics, Faculty of Business and Economics, Monash University, Melbourne, Australia.



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.


Economic evaluation.


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.


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.

Copyright 2005 S. Karger AG, Basel.

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