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Community Genet. 1998;1(1):36-47.

Explorative study of costs, effects and savings of screening for female fragile X premutation and full mutation carriers in the general population.

Author information

1
Department of Public Health, Erasmus University, Rotterdam, The Netherlands. wildhagen@mgz.fgg.eur.nl

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.

PMID:
15178985
DOI:
16133
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