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Am J Obstet Gynecol. 2005 Jun;192(6):1905-12; discussion 1912-5.

Cost-effectiveness analysis of prenatal population-based fragile X carrier screening.

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Department of Obstetrics and Gynecology, California Pacific Medical Center, San Francisco, USA.



To investigate the cost-effectiveness of a widespread prenatal population-based fragile X carrier screening program.


A decision tree was designed comparing screening versus not screening for the fragile X mental retardation protein 1 premutation in all pregnant women. Baseline values included a prevalence of fragile X mental retardation protein 1 premutations of 3.3 per 1000, a premutation expansion rate of 11.3%, and a 99% sensitivity of the screening test. The cost of the screening test was varied from 75 US dollars to 300 US dollars. A sensitivity analysis of the probabilities, utilities, and costs was performed.


The screening strategy would lead to the identification of 80% of the fetuses affected by fragile X annually. Assuming the cost of 95 US dollars per test and only one child, the program would be cost effective at 14,858 US dollars per quality-adjusted life-year. The screening strategy remained cost effective up to 140 US dollars per test and 1 child per woman or for 2 children per woman up to a cost of 281 US dollars per test.


Population-based screening for the fragile X premutation may be both clinically desirable and cost effective. Prospective pilot studies of this screening modality are needed in the prenatal setting.

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