Cell-free DNA for Down syndrome screening in obese women: Is it a cost-effective strategy?

Prenat Diagn. 2020 Jan;40(2):173-178. doi: 10.1002/pd.5605. Epub 2019 Dec 5.

Abstract

Objective: Determine cost differences between cell-free DNA (cfDNA) and serum integrated screening (INT) in obese women given the limitations of aneuploidy screening in this population.

Methods: Using a decision-analytic model, we estimated the cost-effectiveness of trisomy 21 screening in class III obese women using cfDNA compared with INT. Primary outcomes of the model were cost, number of unnecessary invasive tests, procedure-related fetal losses, and missed cases of trisomy 21.

Results: In base case, the mean cost of cfDNA was $498 greater than INT ($1399 vs $901). cfDNA resulted in lower probabilities of unnecessary invasive testing (2.9% vs 3.5%), procedure-related loss (0.015% vs 0.019%), and missed cases of T21 (0.00013% vs 0.02%). cfDNA cost $87 485 per unnecessary invasive test avoided, $11 million per procedure-related fetal loss avoided, and $2.2 million per missed case of T21 avoided. In sensitivity analysis, when the probability of insufficient fetal fraction is assumed to be >25%, cfDNA is both costlier than INT and results in more unnecessary invasive testing (a dominated strategy).

Conclusion: When the probability of insufficient fetal fraction more than 25% (a maternal weight of ≥300 lbs), cfDNA is costlier and results in more unnecessary invasive testing than INT.

MeSH terms

  • Abortion, Induced / economics
  • Abortion, Induced / statistics & numerical data
  • Abortion, Spontaneous / economics
  • Abortion, Spontaneous / epidemiology
  • Amniocentesis / economics
  • Chorionic Villi Sampling / economics
  • Cost-Benefit Analysis*
  • Decision Support Techniques
  • Down Syndrome / diagnosis*
  • Down Syndrome / economics
  • Female
  • Humans
  • Maternal Serum Screening Tests / economics
  • Maternal Serum Screening Tests / methods
  • Missed Diagnosis / economics
  • Missed Diagnosis / statistics & numerical data
  • Noninvasive Prenatal Testing / economics
  • Noninvasive Prenatal Testing / methods*
  • Obesity, Maternal / blood*
  • Pregnancy
  • Stillbirth / economics
  • Stillbirth / epidemiology