Cost‐effectiveness of five prenatal screening strategies for trisomies and other unbalanced chromosomal abnormalities: model‐based analysis

• DOI: 10.1002/uog.20301
• Publication Date: 2019-04-22T08:43:41Z
• Authors: A. Le Bras; L. J. Salomon; L. Bussières; V. Malan; C. Elie; H. Mahallati; Y. Ville; M. Vekemans; I. Durand‐Zaleski
• Keywords: Chromosome Aberrations; Trisomy 13 Syndrome; Sensitivity and Specificity; Cohort Studies; 03 medical and health sciences; 0302 clinical medicine; Pregnancy; Case-Control Studies; Prenatal Diagnosis; Humans; Female; France; Down Syndrome; Cell-Free Nucleic Acids; Trisomy 18 Syndrome

ABSTRACTObjectiveTo evaluate the cost‐effectiveness of five prenatal screening strategies for trisomies (13/18/21) and other unbalanced chromosomal abnormalities (UBCA), following the introduction of cell‐free DNA (cfDNA) analysis.MethodsA model‐based cost‐effectiveness analysis was performed to estimate prevalence, safety, screening‐program costs and healthcare costs of five different prenatal screening strategies, using a virtual cohort of 652 653 pregnant women in France. Data were derived from the French Biomedicine Agency and published articles. Uncertainty was addressed using one‐way sensitivity analysis. The five strategies compared were: (i) cfDNA testing for women with a risk following first‐trimester screening of ≥ 1/250; (ii) cfDNA testing for women with a risk of ≥ 1/1000 (currently recommended); (iii) cfDNA testing in the general population (regardless of risk); (iv) invasive testing for women with a risk of ≥ 1/250 (historical strategy); and (v) invasive testing for women with a risk of ≥ 1/1000.ResultsIn our virtual population, at similar risk thresholds, cfDNA testing compared with invasive testing was cheaper but less effective. Compared with the historical strategy, cfDNA testing at the ≥ 1/1000 risk threshold was a more expensive strategy that detected 158 additional trisomies, but also 175 fewer other UBCA. Implementation of cfDNA testing in the general population would give an incremental cost‐effectiveness ratio of €9 166 689 per additional anomaly detected compared with the historical strategy.ConclusionExtending cfDNA to lower risk thresholds or even to all pregnancies would detect more trisomies, but at greater expense and with lower detection rate of other UBCA, compared with the historical strategy. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.