Emilia Kostenko1, Frederic Chantraine2, Katleen Vandeweyer3, Maximilian Schmid4, Alex Lefevre3, Deanna Hertz5, Laura Zelle5, Jose Luis Bartha6, Gian Carlo Di Renzo7. 1. Roche Sequencing Solutions, Inc., Prague, Czechia, emilia.kostenko@roche.com. 2. Department of Obstetrics and Gynecology, CHR Citadelle, Liège, Belgium. 3. Roche Sequencing Solutions, Inc., Vilvoorde, Belgium. 4. Roche Sequencing Solutions, Inc., San Jose, California, USA. 5. GfK, Waltham, Massachusetts, USA. 6. La Paz Hospital, Madrid, Spain. 7. Center for Perinatal and Reproductive Medicine, University of Perugia, Perugia, Italy.
Abstract
OBJECTIVE: To evaluate the clinical and economic impact of adopting noninvasive prenatal testing (NIPT) using circulating cell-free DNA as a first-line screening method for trisomy 21, 18, and 13 in the general pregnancy population. METHODS: A decision-analytical model was developed to assess the impact of adopting NIPT as a primary screening test compared to conventional screening methods. The model takes the Belgium perspective and includes only the direct medical cost of screening, diagnosis, and procedure-related complications. NIPT costs are EUR 260. Clinical outcomes and the cost per trisomy detected were assessed. Sensitivity analysis measured the impact of NIPT false-positive rate (FPR) on modelled results. RESULTS: The cost per trisomy detected was EUR 63,016 for conventional screening versus EUR 66,633 for NIPT, with a difference of EUR 3,617. NIPT reduced unnecessary invasive tests by 94.8%, decreased procedure-related miscarriages by 90.8%, and increased trisomies detected by 29.1%. Increasing the FPR of NIPT (from < 0.01 to 1.0%) increased the average number of invasive procedures required to diagnose a trisomy from 2.2 to 4.5, respectively. CONCLUSION: NIPT first-line screening at a reasonable cost is cost-effective and provides better clinical outcomes. However, modelled results are dependent on the adoption of an NIPT with a low FPR. The Author(s). Published by S. Karger AG, Basel.
OBJECTIVE: To evaluate the clinical and economic impact of adopting noninvasive prenatal testing (NIPT) using circulating cell-free DNA as a first-line screening method for trisomy 21, 18, and 13 in the general pregnancy population. METHODS: A decision-analytical model was developed to assess the impact of adopting NIPT as a primary screening test compared to conventional screening methods. The model takes the Belgium perspective and includes only the direct medical cost of screening, diagnosis, and procedure-related complications. NIPT costs are EUR 260. Clinical outcomes and the cost per trisomy detected were assessed. Sensitivity analysis measured the impact of NIPT false-positive rate (FPR) on modelled results. RESULTS: The cost per trisomy detected was EUR 63,016 for conventional screening versus EUR 66,633 for NIPT, with a difference of EUR 3,617. NIPT reduced unnecessary invasive tests by 94.8%, decreased procedure-related miscarriages by 90.8%, and increased trisomies detected by 29.1%. Increasing the FPR of NIPT (from < 0.01 to 1.0%) increased the average number of invasive procedures required to diagnose a trisomy from 2.2 to 4.5, respectively. CONCLUSION:NIPT first-line screening at a reasonable cost is cost-effective and provides better clinical outcomes. However, modelled results are dependent on the adoption of an NIPT with a low FPR. The Author(s). Published by S. Karger AG, Basel.
Authors: Hilary Bowman-Smart; Julian Savulescu; Christopher Gyngell; Cara Mand; Martin B Delatycki Journal: Prenat Diagn Date: 2019-10-10 Impact factor: 3.050