Economic impact of using maternal plasma cell‐free DNA testing to guide further workup in recurrent pregnancy loss. (24th May 2021)

• Record Type: Journal Article
• Authors: Peng, Siyang; Bhatt, Sucheta; Borrell, Antoni; Yaron, Yuval
• Is Part Of: Prenatal diagnosis. Volume 41:Number 10(2021)
• Page Start: 1215
• Page End: 1221
• Publication Date: 2021-05-24
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.5972
• Languages: English
• ISSNs: 0197-3851

Abstract

Abstract: Objective: We have previously demonstrated that maternal‐plasma cell‐free DNA (cfDNA)‐testing can detect chromosomal anomalies in recurrent pregnancy loss (RPL) with 81.8% sensitivity and 90.3% specificity. Here we assess whether this is cost effective in guiding further workup in RPLs. Method: A decision‐analytic model was developed to compare the cost of various RPL management pathways: (1) current American Society for Reproductive Medicine (ASRM) RPL workup; (2) microarray or karyotyping analysis of products of conception (POCs) and RPL workup only for euploid cases; and (3) cfDNA testing and RPL workup only for euploid cases. Sample accessibility, failure rates, and sensitivity were specified for each test. Costs of sample collection, genetic tests, and RPL workup were considered. Analysis outcomes included detection rate of chromosomal anomaly and cost per patient tested. Results: In comparison to existing cytogenetic testing on POCs, cfDNA testing pathway allowed for better sample accessibility with a lower cost per patient. In addition, using cfDNA to guide further workup significantly increases the number of causative fetal chromosome anomalies detected, reducing the number of patients undergoing unnecessary workup resulting in an overall cost savings. Conclusion: Our study showed that inclusion of cfDNA testing is a cost‐effective approach to guide RPL workup. Key points: What is already known about this topic? Chromosomal anomalies account for 50%–70% of early pregnancy loss (EPL) and even in recurrent pregnancy loss (RPL) random aneuploidy is the single most common etiology, accounting for >50% of cases. In a previous study we have shown that maternal‐plasma genome‐wide cell‐free DNA (cfDNA)‐based testing can reliably detect chromosomal anomalies in random EPL and RPL with a sensitivity of 81.8% and a specificity of 90.3%. We therefore suggested cfDNA‐based testing serve to guide further management in cases of RPL: if cfDNA in the second and subsequent RPL demonstrates aneuploidy, no further action is taken; if an unbalanced rearrangement is found, parental karyotyping is recommended; if no abnormality is detected, the recommended RPL workup is performed. What does this study add? In this study we demonstrate that using cfDNA to guide further workup in RPL is a cost‐effective approach. We share our algorithm to facilitate local cost‐effectiveness analysis based on prevailing billing schemes, either based on national health systems or private payor systems.