No abstract

Objective: Evaluation of the costs, effects and savings of three strategies for female fragile X premutation and full mutation carrier screening in the general population. Methods: We calculated the costs, effects and savings by using a general model for prenatal, preconceptional, and school carrier screening. Assumptions were based on literature data, expert opinions, prices and tariffs. Results: Prenatal screening will detect most carriers and will lead to the highest number of avoided fragile X syndrome patients. The costs per detected carrier are quite similar for all screening programmes (around USD 45,000). All screening strategies have a favourable cost-savings balance (USD 14 million for prenatal screening, USD 9 million for preconceptional screening and USD 2 million for school screening). Conclusions: From an economic point of view, there is no obstacle to fragile X screening. The decision to screen or not can (and should) therefore concentrate on discussion of medical, social, psychological and ethical considerations.

The results of our analysis show that cascade testing is not very effective in detecting carriers.