Reflex single-gene non-invasive prenatal testing significantly increases the cost-effectiveness of carrier screening

Abstract

Objective: To evaluate whether adoption of a carrier screen with reflex single-gene non-invasive prenatal test (sgNIPT) in prenatal care is clinically and economically beneficial. Method: A decision-analytic model was developed to compare reflex sgNIPT as first-line carrier screening to the traditional sequential carrier screening workflow (positive maternal carrier screen is followed by paternal screening to evaluate fetal risk). The model compared the clinical outcomes and cost effectiveness between the two screening methods. Results: Reflex sgNIPT carrier screening detected 108 of 110 affected pregnancies per 100,000 births (sensitivity 98.5%). This is a 2.4-fold improvement compared to the traditional sequential carrier screening, which detected 46 of 110 affected pregnancies per 100,000 births (sensitivity 41.5%). The testing costs in reflex sgNIPT carrier screening to identify one affected birth were $ 0.65 million, reduced by 62% from $1.73 million in traditional sequential carrier screening. Adoption of reflex sgNIPT carrier screening translated to a cost savings of $90.6 million per 100,000 births. Conclusion: Using reflex sgNIPT as the first-line carrier screening method improved the detection of affected births by 2.4-fold and saved $906 in healthcare costs per pregnancy screened. A real-life experience will need to assess the clinical utility of carrier screen with reflex sgNIPT.