Xuanqian Xie1, Myra Wang2, Elaine Suk-Ying Goh3, Wendy J Ungar4, Julian Little5, June C Carroll6, Nan Okun7, Tianhua Huang8, François Rousseau9, Shelley D Dougan10, Hong Anh Tu2, Caroline Higgins2, Corinne Holubowich2, Nancy Sikich2, Irfan A Dhalla2, Vivian Ng2. 1. Health Quality Ontario, Toronto, ON. Electronic address: shawn.xie@hqontario.ca. 2. Health Quality Ontario, Toronto, ON. 3. Laboratory Medicine and Genetics Program, Trillium Health Partners, Mississauga, ON. 4. Program of Child Health Evaluative Sciences, Hospital for Sick Children Research Institute, Toronto, ON; 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; Genetics Program, North York General Hospital, Toronto, ON. 9. Department of Molecular Biology, Medical Biochemistry and Pathology, Faculty of Medicine, Université Laval, Québec City, QC. 10. Prenatal Screening Ontario, Better Outcomes Registry and Network (BORN) Ontario, Ottawa, ON.
Abstract
OBJECTIVE: The 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. METHODS: A 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. RESULTS: Compared 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. CONCLUSIONS: NIPT 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.
OBJECTIVE: The 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. METHODS: A 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. RESULTS: Compared 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. CONCLUSIONS: NIPT 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.