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Cost-effectiveness threshold of first-trimester Down syndrome maternal serum screening for the use of cell-free DNA as a second-tier screening test

Abstract : 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 1/1000 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 ≥ 1/1000, 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 1/1000 (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.
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https://hal.uca.fr/hal-03439596
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Submitted on : Monday, November 22, 2021 - 12:08:49 PM
Last modification on : Friday, November 26, 2021 - 3:09:47 AM

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Marie Blanquet, Sophie Dreux, Stéphanie Léger, Corinne Sault, Charline Mourgues, et al.. Cost-effectiveness threshold of first-trimester Down syndrome maternal serum screening for the use of cell-free DNA as a second-tier screening test. Annales de Biologie Clinique, John Libbey Eurotext, 2021, 79 (4), pp.331-338. ⟨10.1684/abc.2021.1656⟩. ⟨hal-03439596⟩

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