The fetal fraction of cell-free DNA in maternal plasma is not affected by a priori risk of fetal trisomy

Abstract

Objective: To determine the relationship between a priori risk for fetal trisomy and the fraction of fetal cell-free DNA (cfDNA) in maternal blood. Methods: A comparative analysis on fetal cfDNA amounts was performed in subjects stratified into a priori risk groups based on maternal age, prenatal screening results, or nuchal translucency measurement. Results: Across the highest and lowest deciles within each group, there were no significant differences in the fetal cfDNA fraction. Conclusions: These data support the concept that non-invasive prenatal test performance as determined by fetal cfDNA fraction is not predicted to be different based on patient risk classification.

Keywords::

• Non-invasive
• prenatal diagnosis
• cell-free DNA
• trisomy risk

Acknowledgements

We thank all the investigators and research study staff involved in the NICE Study as well as those patients who consented to participate in clinical research.

Declaration of Interest: E.W., C.S., and T.M. are paid employees of Ariosa Diagnostics, Inc. MEN is co-Principal Investigator onNCT01511458, sponsored by Ariosa Diagnostics.