Cost-effectiveness threshold of first-trimester Down syndrome maternal serum screening for the use of cell-free DNA as a second-tier screening test
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Published on: August 17, 2022
Marie Blanquet1, Sophie Dreux2, Stéphanie Léger3
1Service de médecine, Centre hospitalier de Mauriac, France, Université Clermont-Auvergne, CNRS-UMR 6602, Institut Pascal, Axe TGI, Péprade, Clermont-Ferrand, France.
Introduction:
We aimed to identify the most relevant cost-effectiveness threshold of first-trimester Down syndrome (DS) maternal serum screening (T21T1) for the use of cell-free DNA (cfDNA) as a second-tier test in the French context.
Method:
A cost-effectiveness analysis was performed on 108,121 singleton pregnancies using a simulation model. The threshold of T21T1 screening was ranged from 1/51 to 1/1,000 in steps of 1/50. The most relevant threshold was based on cost-effectiveness ratio (CER; costs = direct medical costs after T21T1 screening/ effectiveness = number of DS cases identified).
Results:
In the sample, 161 cases of DS were identified. At the threshold of ≥ 1/50, 47.2% of total DS cases were diagnosed. In the simulation model, for a threshold ≥ 1/250, 73.9% of total DS cases were diagnosed, for ≥ 1/500, 78.8% and for ≥ 1/1,000, only two additional cases were diagnosed. The slope of the cost increase was slight from threshold ≥ 1/250 (978,634 €), then steep up to 1/500 (1,966,576 €) and increased exponentially to 1/1,000 (3,980,216 €). The CER was 38,560 for a threshold ≥ 1/500.
Conclusion:
The most cost-effective threshold for cfDNA as a second-tier test seems to be ≥ 1/500. For higher thresholds, costs increase dramatically for only a few additional cases of DS identified.
