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Related Experiment Video

Updated: May 11, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
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Maternal cfDNA screening for Down syndrome--a cost sensitivity analysis.

Howard Cuckle1, Peter Benn, Eugene Pergament

  • 1Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY, USA. hsc2121@columbia.edu

Prenatal Diagnosis
|May 16, 2013
PubMed
Summary

The cost of avoiding Down syndrome births using cell-free DNA (cfDNA) screening is primarily driven by the cfDNA test

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Area of Science:

  • Prenatal diagnostics
  • Genetics
  • Public health

Background:

  • Conventional screening methods for Down syndrome have limitations.
  • Cell-free DNA (cfDNA) screening offers a non-invasive alternative.
  • Assessing the cost-effectiveness of cfDNA screening is crucial for implementation.

Purpose of the Study:

  • To identify the key factors influencing the cost of Down syndrome avoidance using cfDNA screening.
  • To compare the cost-effectiveness of cfDNA screening against conventional methods.
  • To inform public health policy regarding prenatal screening strategies.

Main Methods:

  • Unit costs for screening components were systematically assigned.
  • Detection rates were determined through meta-analysis and predictive modeling.

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  • Marginal costs were calculated based on cost differences and detection rate improvements.

    • Main Results:

    • The unit cost of cfDNA testing emerged as the most significant cost factor.
    • Marginal costs varied considerably with cfDNA test prices, ranging from $1.4m to $8.0m.
    • Contingent cfDNA screening policies (10-20% uptake) demonstrated greater cost-efficiency.
    • Screening costs were sensitive to patient uptake rates.

    Conclusions:

    • Universal cfDNA screening for Down syndrome requires substantial cost reduction to be affordable for public health systems.
    • Contingent cfDNA screening strategies are recommended as a more cost-effective approach in the interim.
    • Further research into cost reduction strategies for cfDNA testing is warranted.