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Updated: Apr 28, 2026

Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
Published on: June 8, 2019
The utilization of circulating cell-free fetal DNA testing and decrease in invasive diagnostic procedures: an
K E Pettit1, A D Hull1, L Korty1
1Division of Maternal-Fetal Care and Genetics, University of California, San Diego, San Diego, CA, USA.
Objective:
To characterize the patient population utilizing circulating cell-free fetal DNA (ccffDNA) testing at a large academic center and evaluate trends in the performance of invasive diagnostic procedures.
Study Design:
A retrospective cohort study of all patients who underwent cell-free DNA testing from May to December 2012 was performed.
Result:
During the study period, 206 patients had cell-free DNA testing. Of those, 75% (155/206) were of ages ⩾ 35 years. Of those undergoing ccffDNA testing, 41% had positive aneuploidy screening and 38% had abnormal ultrasound findings. Only 7% of the patients with negative ccffDNA testing opted for an invasive diagnostic procedure compared with 60% with positive testing (P<0.01). The rate of invasive procedures decreased from 5.9% of all visits to the center during a similar 8-month period in 2010 to 4.1% of all visits during the study period (P<0.01).
Conclusion:
Our data suggest that ccffDNA testing leads to reduced uptake of invasive procedures.

