Léon Nshimyumukiza1, Jean-Alexandre Beaumont2, Julie Duplantie3, Sylvie Langlois4, Julian Little5, François Audibert6, Christopher McCabe7, Jean Gekas8, Yves Giguère9, Christian Gagné10, Daniel Reinharz3, François Rousseau9. 1. Department of Social and Preventive Medicine, Faculty of Medicine, Université Laval, Québec City, QC. Electronic address: leon.nshimyumukiza@fmed.ulaval.ca. 2. Department of Software Engineering, Faculty of Sciences and Engineering, Université Laval, Québec City, QC. 3. Department of Social and Preventive Medicine, Faculty of Medicine, Université Laval, Québec City, QC. 4. Department of Medical Genetics, University of British Columbia, Vancouver, BC. 5. School of Epidemiology, Public Health and Preventive Medicine, University of Ottawa, Ottawa, ON. 6. Department of Obstetrics and Gynaecology, Faculty of Medicine, Université de Montréal, Montréal, QC. 7. Department of Emergency Medicine, University of Alberta Hospital, Edmonton, AB. 8. Research Centre, Centre hospitalier universitaire de Québec, Québec City, QC. 9. Research Centre, Centre hospitalier universitaire de Québec, Québec City, QC; Department of Molecular Biology, Medical Biochemistry, and Pathology, Faculty of Medicine, Université Laval, Québec City, QC. 10. Department of Computer Engineering, Faculty of Sciences and Engineering, Université Laval, Québec City, QC.
Abstract
OBJECTIVE: Yearly, 450 000 pregnant Canadians are eligible for voluntary prenatal screening for trisomy 21. Different screening strategies select approximately 4% of women for invasive fetal chromosome testing. Non-invasive prenatal testing (NIPT) using maternal blood cell-free DNA could reduce those invasive procedures but is expensive. This study evaluated the cost-effectiveness of NIPT strategies compared with conventional strategies. METHODS: This study used a decision analytic model to estimate the cost-effectiveness of 13 prenatal screening strategies for fetal aneuploidies: six frequently used strategies, universal NIPT, and six strategies incorporating NIPT as a second-tier test. The study considered a virtual cohort of pregnant women of similar size and age as women in Quebec. Model data were obtained from published sources and government databases. The study predicted the number of chromosomal anomalies detected (trisomies 21, 13, and 18), invasive procedures and euploid fetal losses, direct costs, and incremental cost-effectiveness ratios. RESULTS: Of the 13 strategies compared, eight identified fewer cases at a higher cost than at least one of the remaining five strategies. Integrated serum screening with conditional NIPT had the lowest cost, and the cost per case detected was $63 139, with a 90% reduction of invasive procedures. The number of cases identified was improved with four other screening strategies, but with increasing of incremental costs per case (from $61 623 to $1 553 615). Results remained robust, except when NIPT costs and risk cut-offs varied. CONCLUSION: NIPT as a second-tier test for high-risk women is likely to be cost-effective as compared with screening algorithms not involving NIPT.
OBJECTIVE: Yearly, 450 000 pregnant Canadians are eligible for voluntary prenatal screening for trisomy 21. Different screening strategies select approximately 4% of women for invasive fetal chromosome testing. Non-invasive prenatal testing (NIPT) using maternal blood cell-free DNA could reduce those invasive procedures but is expensive. This study evaluated the cost-effectiveness of NIPT strategies compared with conventional strategies. METHODS: This study used a decision analytic model to estimate the cost-effectiveness of 13 prenatal screening strategies for fetal aneuploidies: six frequently used strategies, universal NIPT, and six strategies incorporating NIPT as a second-tier test. The study considered a virtual cohort of pregnant women of similar size and age as women in Quebec. Model data were obtained from published sources and government databases. The study predicted the number of chromosomal anomalies detected (trisomies 21, 13, and 18), invasive procedures and euploid fetal losses, direct costs, and incremental cost-effectiveness ratios. RESULTS: Of the 13 strategies compared, eight identified fewer cases at a higher cost than at least one of the remaining five strategies. Integrated serum screening with conditional NIPT had the lowest cost, and the cost per case detected was $63 139, with a 90% reduction of invasive procedures. The number of cases identified was improved with four other screening strategies, but with increasing of incremental costs per case (from $61 623 to $1 553 615). Results remained robust, except when NIPT costs and risk cut-offs varied. CONCLUSION:NIPT as a second-tier test for high-risk women is likely to be cost-effective as compared with screening algorithms not involving NIPT.