The cost-effectiveness of prenatal carrier screening for cystic fibrosis

To evaluate the economic consequences of routinely offering cystic fibrosis-carrier screening to pregnant white women under 35 years of age.

Decision analysis was used to evaluate the health outcomes and medical costs of a screening program from the health care payer's perspective. Probabilities were taken from the literature; cost data were based on consultations with laboratory and hospital administrators. Sensitivity analysis was performed for key assumptions.

If the test acceptance rate were 78% and the screening test identified 85% of carriers, a prenatal cystic fibrosis-carrier screening program would identify slightly more than half of the high-risk pregnancies in the population. For a cohort of one million pregnant women, it would cost $83 million. If the proportion of couples choosing abortion were 30% and the lifetime cost of medical care for cystic fibrosis were $243,650, the program would save $12 million in averted costs of medical care for cystic fibrosis, for a net cost of $71 million. Even after accounting for the savings in averted medical care for cystic fibrosis, the cost per high-risk pregnancy identified would be $82,000; the cost per unwanted cystic fibrosis birth averted would be $1.4 million. Results were sensitive to the cost and sensitivity of the screening test, but relatively insensitive to the test acceptance rate and therapeutic abortion rates between 50-100% among pregnancies identified with cystic fibrosis.

A prenatal cystic fibrosis-carrier screening program would not save the health care payer money under most assumptions, but may be justified if the benefit of the early information provided to expectant parents is judged worth the cost.