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Updated: Jul 22, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Economic evaluation of prenatal population screening for fragile X syndrome
Bruce Hollingsworth1, Anthony Harris
1Centre for Health Economics, Faculty of Business and Economics, Monash University, Melbourne, Australia. bruce.hollingsworth@buseco.monash.edu.au
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.

