Economic Evaluation of Prenatal Carrier Screening for Fragile X Syndrome

Abstract

Objective: The objective of this study was to conduct an economic evaluation of routine prenatal carrier testing for fragile X syndrome.

Methods: This economic analysis was conducted from the societal perspective. A cost-benefit equation was developed based on the premise that the cost of routinely offering prenatal carrier testing for fragile X syndrome should be at least equal to, or less than, the cost of the current practice of not offering such testing. Sensitivity analyses included key assumptions regarding therapeutic abortion rates (50–100%) and patient screening acceptance rates (50–80%).

Results: A policy of routinely offering prenatal carrier testing for fragile X syndrome may be beneficial only if the cost per screening test is less than $120 during the first year of the screening program, or less than $240 when the program reaches its full maturity. Given the current cost per screening test of $250, prenatal screening for carrier status for fragile X syndrome carries the potential for annual losses of approximately $10 to $195 million in the United States. In addition, approximately 46–115 fetal lives may be lost due to invasive genetic procedures.

Conclusions: Prenatal screening for fragile X syndrome may be economically beneficial only if the cost of the prenatal screening test for carrier identification is considerably less than the current cost.

Key Words:

• economic evaluation
• prenatal carrier screening
• fragile X