In pregnant women with a positive BUN screen or quad screen, does secondary screening with cell-free DNA reduce the incidence of invasive testing for fetal aneuploidy?

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EVIDENCE-BASED ANSWERYes. Offering cell-free DNA as a diagnostic option for pregnant women with positive genetic screening tests reduces the use of invasive diagnostic procedures by 28%. In a cost analysis, the number of invasive diagnostic procedures was reduced by 1.3 per 100 pregnant women at age 20, by 1.6 per 100 pregnant women at age 30, and by 8.4 per 100 pregnant women at age 40, although more diagnoses were missed for all age groups (SOR: C, cohort study, decision analysis study with sensitivity analysis).

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