Noninvasive Prenatal Testing for Trisomies 21, 18, and 13, Sex Chromosome Aneuploidies,and Microdeletions in Average-Risk Pregnancies: A Cost-Effectiveness Analysis |
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| Institution: | 1. Health Quality Ontario, Toronto, ON;2. Laboratory Medicine and Genetics Program, Trillium Health Partners, Mississauga, ON;3. Program of Child Health Evaluative Sciences, Hospital for Sick Children Research Institute, Toronto, ON;4. Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON;5. School of Epidemiology and Public Health, University of Ottawa, Ottawa, ON;6. Department of Family and Community Medicine, Sinai Health System, University of Toronto, Toronto, ON;7. Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON;8. Prenatal Screening Ontario, Better Outcomes Registry and Network (BORN) Ontario, Ottawa, ON;9. Genetics Program, North York General Hospital, Toronto, ON;10. Department of Molecular Biology, Medical Biochemistry and Pathology, Faculty of Medicine, Université Laval, Québec City, QC;1. Department of Obstetrics and Gynecology, University of Calgary, Calgary, AB;2. Department of Community Health Sciences, University of Calgary, Calgary, AB;3. Department of Medicine, University of Calgary, Calgary, AB;1. Department of Obstetrics and Gynecology, Brigham and Women''s Hospital, Boston, MA;2. Department of Obstetrics, Gynecology and Reproductive Biology, Harvard Medical School, Boston, MA;3. Department of Obstetrics and Gynecology, Massachusetts General Hospital, Boston, MA |
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| Abstract: | ObjectiveThe cost effectiveness of noninvasive prenatal testing (NIPT) has been established for high-risk pregnancies but remains unclear for pregnancies at other risk levels. The aim was to assess the cost effectiveness of NIPT in average-risk pregnancies from the perspective of a provincial public payer in Canada.MethodsA model was developed to compare traditional prenatal screening (TPS), NIPT as a second-tier test (performed only after a positive TPS result), and NIPT as a first-tier test (performed instead of TPS) for trisomies 21, 18, and 13; sex chromosome aneuploidies; and microdeletions in a hypothetical annual population cohort of average-risk pregnancies (142 000 to 148,000) in Ontario, Canada. A probabilistic analysis was conducted with 5000 repetitions.ResultsCompared with TPS, NIPT as a second-tier test detected more affected fetuses with trisomies 21, 18, and 13 (188 vs. 158), substantially reduced the number of diagnostic tests (i.e., chorionic villus sampling and amniocentesis) performed (660 vs. 3107), and reduced the cost of prenatal screening ($26.7 million vs. $27.6 million) annually. Compared with second-tier NIPT, first-tier NIPT detected an additional 80 cases of trisomies 21, 18, and 13 at an additional cost of $33 million. The incremental cost per additional affected fetus detected was $412 411. Extending first-tier NIPT to include testing for sex chromosome aneuploidies and 22q11.2 deletion would increase the total screening cost.ConclusionsNIPT as a second-tier test is cost-saving compared with TPS alone. Compared with second-tier NIPT, first-tier NIPT detects more cases of chromosomal anomalies but at a substantially higher cost. |
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