Universal Prenatal cfDNA‐Single Gene Disorder Screening for Autosomal Dominant Conditions in a Low‐Risk Cohort: A Cost‐Effectiveness Analysis

ABSTRACT Objective The use of cell free fetal DNA has expanded to include autosomal dominant single gene conditions (cfDNA‐SGD). Our aim is to estimate the cost‐effectiveness of a cfDNA‐SGD panel in a general obstetric population as compared to offering this test only in the setting of anomalies. Methods Using TreeAge software, we created a decision‐analytic model to compare outcomes of the universal cfDNA‐SGD. The screening conditions included in the current panel were separated into tiers (1, 2, 3) based on severity and life expectancy of the conditions. Outcomes included miscarriage after diagnostic procedure, termination, neonatal death, and the outcome of affected livebirth. The cost‐effectiveness threshold was set at $100,000 per QALY. Results When applied to a theoretical cohort of 3.7 million individuals, the strategy of universal cfDNA‐SGD resulted in approximately 2979 fewer affected livebirths. Given the high costs of care associated with an affected liveborn, universal cfDNA‐SGD was projected to be cost‐saving in this model until the test cost exceeded $1094. The universal cfDNA‐SGD strategy was also projected to yield an additional 10,477 maternal QALYs. Conclusion In this model, and under the assumptions specified, universal cfDNA‐SGD was projected to be cost‐saving and to yield additional maternal QALYs relative to ultrasound‐indicated cfDNA‐SGD. These are model‐based projections rather than observed outcomes; prospective implementation studies will be needed before any conclusion can be drawn about routine integration into prenatal care.