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Cost-effectiveness of prenatal screening and diagnostic strategies for Down syndrome: A microsimulation modeling analysis

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  • Wei Zhang
  • Tima Mohammadi
  • Julie Sou
  • Aslam H Anis

Abstract

Objectives: Down syndrome (DS) is the most frequently occurring fetal chromosomal abnormality and different prenatal screening strategies are used for determining risk of DS worldwide. New non-invasive prenatal testing (NIPT), which uses cell-free fetal DNA in maternal blood can provide benefits due to its higher sensitivity and specificity in comparison to conventional screening tests. This study aimed to assess the cost-effectiveness of using population-level NIPT in fetal aneuploidy screening for DS. Methods: We developed a microsimulation decision-analytic model to perform a probabilistic cost-effectiveness analysis (CEA) of prenatal screening and diagnostic strategies for DS. The model followed individual simulated pregnant women through the pregnancy pathway. The comparators were serum-only screening, contingent NIPT (i.e., NIPT as a second-tier screening test) and universal NIPT (i.e., NIPT as a first-tier screening test). To address uncertainty around the model parameters, the expected values of costs and quality-adjusted life-years (QALYs) in the base case and all scenario analyses were obtained through probabilistic analysis from a Monte Carlo simulation. Results: Base case and scenario analyses were conducted by repeating the micro-simulation 1,000 times for a sample of 45,605 pregnant women per the population of British Columbia, Canada (N = 4.8 million). Preliminary results of the sequential CEAs showed that contingent NIPT was a dominant strategy compared to serum-only screening. Compared with contingent NIPT, universal NIPT at the current test price was not cost-effective with an incremental cost-effectiveness ratio over $100,000/QALY. Contingent NIPT also had the lowest cost per DS case detected among these three strategies. Conclusion: Including NIPT in existing prenatal screening for DS is shown to be beneficial over conventional testing. However, at current prices, implementation of NIPT as a second-tier screening test is more cost-effective than deploying it as a universal test.

Suggested Citation

  • Wei Zhang & Tima Mohammadi & Julie Sou & Aslam H Anis, 2019. "Cost-effectiveness of prenatal screening and diagnostic strategies for Down syndrome: A microsimulation modeling analysis," PLOS ONE, Public Library of Science, vol. 14(12), pages 1-17, December.
    • Handle: RePEc:plo:pone00:0225281
    DOI: 10.1371/journal.pone.0225281
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    References listed on IDEAS

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    1. Lidia García-Pérez & Renata Linertová & Margarita Álvarez-de-la-Rosa & Juan Carlos Bayón & Iñaki Imaz-Iglesia & Jorge Ferrer-Rodríguez & Pedro Serrano-Aguilar, 2018. "Cost-effectiveness of cell-free DNA in maternal blood testing for prenatal detection of trisomy 21, 18 and 13: a systematic review," The European Journal of Health Economics, Springer;Deutsche Gesellschaft für Gesundheitsökonomie (DGGÖ), vol. 19(7), pages 979-991, September.
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    1. Di Giacomo, Marina & Piacenza, Massimiliano & Siciliani, Luigi & Turati, Gilberto, 2022. "The effect of co-payments on the take-up of prenatal tests," Journal of Health Economics, Elsevier, vol. 81(C).

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