The cost-effectiveness of prenatal screening for spinal muscular atrophy.
OBJECTIVE
We sought to investigate the cost-effectiveness of prenatal screening for spinal muscular atrophy (SMA).


METHODS
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.


CONCLUSIONS
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.
Little
Sarah E
SE
Department of Obstetrics and Gynecology, Massachusetts General Hospital, Boston, MA, USA.
Janakiraman
Vanitha
V
Kaimal
Anjali
A
Musci
Thomas
T
Ecker
Jeffrey
J
Caughey
Aaron B
AB
D003362:Cost-Benefit Analysis; D003661:Decision Support Techniques; D005260:Female; D006580:Genetic Carrier Screening; D005820:Genetic Testing / Q000191:economics*; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D019057:Quality-Adjusted Life Years; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis* / Q000235:genetics; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics
C526471:SMN1 protein, human; D055533:Survival of Motor Neuron 1 Protein