(1178) What is the optimal next step after a “no call” cell-free DNA result?

Diagnostic testing with amniocentesis was the cost-effective strategy after a "no call" result in every age cohort compared to either an alternate screening, repeat cfDNA, or no further screening. In the age cohort of 35-39, an amniocentesis was cost-effective compared to an alternate screening test with an Incremental Cost-Effectiveness Ratio (ICER) of $3,475/QALY, and dominant compared to a repeat cfDNA and no further screening. After age 40, offering amniocentesis was a dominant strategy compared to the other three strategies, as it increased QALYs and decreased overall costs  (Table 2).

Conclusion: Offering amniocentesis is the cost-effective strategy for a no-call cfDNA result compared to a repeat cfDNA screen, additional screening methods and no further evaluation. It is important to discuss the risks and benefits of genetic screening and diagnosis with patients and to elicit preferences in decision-making.