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Clinical and Cost Consequences of Incorporating a Novel Non-Invasive Prenatal Test into the Diagnostic Pathway for Fetal Trisomies

background TRiSOMiES 21 (DOWn SynDROME, T21), 18 (Edwards syndrome, T18), and 13 (Patau syndrome, T13) are the most common live born aneuploidies (serious conditions caused by extra chromosomes). Trisomy 21 is the most frequently occurring of the three, occurring in, on average, one of every 740 live births, though incidence increases with maternal age. The average life expectancy for T21 individuals is 50 years. it is the leading cause of cognitive impairment and affected persons also have a higher incidence of other health conditions including congenital heart disease, hearing, intestinal, and eye problems, celiac disease, leukemia, and thyroid dysfunction. Trisomy 18 occurs in about one in 5,000 live births, though, like T21, incidence increase with maternal age. Due to the presence of several lifethreatening medical problems, many infants with trisomy 18 die within their first month and as few as summary background: since 2007, the american College of Obstetricians and gynecologists (aCOg) has recommended that all pregnant women be offered prenatal screening for fetal aneuploidy (i.e., trisomies 21, 18, 13). Current screening options include tests with sub-optimal sensitivity and specificity rates, while diagnostic procedures are invasive and create risk of procedure related miscarriage. The verifiTM test, a non-invasive test using circulating cell-free dNa (cfdNa), extracted from a maternal blood sample as early as 10 weeks gestation has demonstrated comparable sensitivity and superior specificity to invasive diagnostics in detecting fetal aneuploidy in chromosomes 21, 18, and 13. Methods: a cost-model was developed to evaluate the impact of incorporating this prenatal test into routine high-risk maternal screening practice. The multi-stage transition probability model leveraged published cost estimates from Medicare as well as practice patterns and disease rates from published literature. results: The model demonstrates that inclusion of the verifiTM prenatal test provides clear clinical benefits. These include a 66 percent reduction in invasive diagnostic induced miscarriages and 38 percent more women receiving a T21 diagnosis. Total costs for prenatal screening and diagnosis for fetal aneuploidies are reduced by 1 percent annually. conclusion: significant clinical and cost advantages are likely to occur when novel non-invasive prenatal screening tests with high sensitivity and specificity are incorporated into routine high-risk screening practice.