The price of performance: a cost and performance analysis of the implementation of cell-free fetal DNA testing for Down syndrome in Ontario, Canada

Prenat Diagn. 2014 Apr;34(4):350-6. doi: 10.1002/pd.4311. Epub 2014 Jan 28.


Objective: To examine the cost and performance implications of introducing cell-free fetal DNA (cffDNA) testing within modeled scenarios in a publicly funded Canadian provincial Down syndrome (DS) prenatal screening program.

Method: Two clinical algorithms were created: the first to represent the current screening program and the second to represent one that incorporates cffDNA testing. From these algorithms, eight distinct scenarios were modeled to examine: (1) the current program (no cffDNA), (2) the current program with first trimester screening (FTS) as the nuchal translucency-based primary screen (no cffDNA), (3) a program substituting current screening with primary cffDNA, (4) contingent cffDNA with current FTS performance, (5) contingent cffDNA at a fixed price to result in overall cost neutrality,(6) contingent cffDNA with an improved detection rate (DR) of FTS, (7) contingent cffDNA with higher uptake of FTS, and (8) contingent cffDNA with optimized FTS (higher uptake and improved DR).

Results: This modeling study demonstrates that introducing contingent cffDNA testing improves performance by increasing the number of cases of DS detected prenatally, and reducing the number of amniocenteses performed and concomitant iatrogenic pregnancy loss of pregnancies not affected by DS. Costs are modestly increased, although the cost per case of DS detected is decreased with contingent cffDNA testing.

Conclusion: Contingent models of cffDNA testing can improve overall screening performance while maintaining the provision of an 11- to 13-week scan. Costs are modestly increased, but cost per prenatally detected case of DS is decreased.

MeSH terms

  • Adult
  • Amniocentesis / economics
  • Amniocentesis / methods
  • Amniocentesis / statistics & numerical data
  • Chorionic Gonadotropin, beta Subunit, Human / analysis
  • Cost-Benefit Analysis
  • Costs and Cost Analysis
  • DNA / analysis*
  • DNA / blood
  • Down Syndrome / diagnosis*
  • Female
  • Fetus / chemistry*
  • Humans
  • Maternal Age
  • Nuchal Translucency Measurement / economics
  • Nuchal Translucency Measurement / statistics & numerical data
  • Ontario
  • Pregnancy
  • Pregnancy-Associated Plasma Protein-A / analysis
  • Prenatal Diagnosis / economics*
  • Prenatal Diagnosis / methods
  • Prenatal Diagnosis / statistics & numerical data
  • Sequence Analysis, DNA / economics*
  • Sequence Analysis, DNA / methods
  • Sequence Analysis, DNA / statistics & numerical data


  • Chorionic Gonadotropin, beta Subunit, Human
  • DNA
  • Pregnancy-Associated Plasma Protein-A