Whitney Burns1, Nathanael Koelper1,2, Andrea Barberio3, Mary Deagostino-Kelly1, Michael Mennuti1, Mary D Sammel1,4, Lorraine Dugoff1. 1. Department of Obstetrics and Gynecology, Hospital of the University of Pennsylvania, Philadelphia, PA, USA. 2. Department of Obstetrics and Gynecology, Center for Research on Reproduction and Women's Health, Hospital of the University of Pennsylvania, Philadelphia, PA, USA. 3. Department of Obstetrics and Gynecology, Weill Cornell Medical College, New York, NY, USA. 4. Department of Biostatistics, Epidemiology and Informatics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Abstract
OBJECTIVES: The objective of this study was to identify maternal characteristics associated with a failed cell-free DNA (cfDNA) test due to a low fetal fraction (FF). METHOD: Retrospective cohort study of women with singleton pregnancies who had cfDNA screening at 10-25 weeks gestation between October 2011 and January 2016. cfDNA screening was performed using methylation techniques until October 2013; thereafter, samples were run with massively parallel sequencing. Multivariable logistic regression was performed to identify maternal characteristics associated with no cell free DNA result secondary to low FF. RESULTS: Thirty-three (1.2%) of 2890 eligible women had a failed cfDNA test, including 18 (0.6%) cases with a low FF. A failed cfDNA test due to a low FF was associated with obesity (aOR 1.11, CI 1.05-1.18, p = 0.0003) and treatment with enoxaparin (aOR 37.5, 11.19-125.87, p < 0.0001). 5 of 28 (18%, 95% CI: 6.1%-36.9%) women on enoxaparin had a failed cfDNA test secondary to a low FFx. CONCLUSION: Enoxaparin therapy and obesity were associated with an increased incidence of a failed cfDNA test due to low FF. Further research is needed to determine the mechanism by which anticoagulation therapy alters cfDNA test functionality and identify approaches to improve test performance in these women.
OBJECTIVES: The objective of this study was to identify maternal characteristics associated with a failed cell-free DNA (cfDNA) test due to a low fetal fraction (FF). METHOD: Retrospective cohort study of women with singleton pregnancies who had cfDNA screening at 10-25 weeks gestation between October 2011 and January 2016. cfDNA screening was performed using methylation techniques until October 2013; thereafter, samples were run with massively parallel sequencing. Multivariable logistic regression was performed to identify maternal characteristics associated with no cell free DNA result secondary to low FF. RESULTS: Thirty-three (1.2%) of 2890 eligible women had a failed cfDNA test, including 18 (0.6%) cases with a low FF. A failed cfDNA test due to a low FF was associated with obesity (aOR 1.11, CI 1.05-1.18, p = 0.0003) and treatment with enoxaparin (aOR 37.5, 11.19-125.87, p < 0.0001). 5 of 28 (18%, 95% CI: 6.1%-36.9%) women on enoxaparin had a failed cfDNA test secondary to a low FFx. CONCLUSION:Enoxaparin therapy and obesity were associated with an increased incidence of a failed cfDNA test due to low FF. Further research is needed to determine the mechanism by which anticoagulation therapy alters cfDNA test functionality and identify approaches to improve test performance in these women.
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