The cost-effectiveness of prenatal screening for spinal muscular atrophy

Sarah E. Little, Vanitha Janakiraman, Anjali Kaimal, Thomas Musci, Jeffrey Ecker, Aaron B. Caughey

Research output: Contribution to journalArticlepeer-review

37 Scopus citations


Objective: We sought to investigate the cost-effectiveness of prenatal screening for spinal muscular atrophy (SMA). Study Design: A decision analytic model was created to compare a policy of universal SMA screening to that of no screening. The primary outcome was incremental cost per maternal quality-adjusted life year. Probabilities, costs, and outcomes were estimated through literature review. Univariate and multivariate sensitivity analyses were performed to test the robustness of our model to changes in baseline assumptions. Results: Universal screening for SMA is not cost-effective at $4.9 million per quality-adjusted life year. In all, 12,500 women need to be screened to prevent 1 case of SMA, at a cost of $5.0 million per case averted. Our results were most sensitive to the baseline prevalence of disease. Conclusion: Universal prenatal screening for SMA is not cost-effective. For populations at high risk, such as those with a family history, SMA testing may be a cost-effective strategy.

Original languageEnglish (US)
Pages (from-to)253.e1-253.e7
JournalAmerican journal of obstetrics and gynecology
Issue number3
StatePublished - Mar 2010
Externally publishedYes


  • cost-effectiveness
  • decision analysis
  • prenatal screening
  • spinal muscular atrophy

ASJC Scopus subject areas

  • Obstetrics and Gynecology


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