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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.
Summary
Circulating cell-free fetal DNA (ccffDNA) testing is primarily used by patients aged 35 and older. This non-invasive screening method significantly reduces the need for invasive diagnostic procedures.
Area of Science:
- Maternal-Fetal Medicine
- Genetics
- Obstetrics
Background:
- Cell-free fetal DNA (ccffDNA) testing offers a non-invasive method for prenatal screening.
- Understanding patient demographics and the impact of ccffDNA on diagnostic procedures is crucial.
Purpose of the Study:
- To characterize the patient population undergoing ccffDNA testing.
- To evaluate the trends in invasive diagnostic procedures following ccffDNA testing.
Main Methods:
- Retrospective cohort study.
- Analysis of patients undergoing ccffDNA testing from May to December 2012.
- Comparison of invasive procedure rates before and during the study period.
Main Results:
- 206 patients underwent ccffDNA testing; 75% were aged 35 or older.
- 41% had positive aneuploidy screening and 38% had abnormal ultrasounds.
- Invasive procedure rates decreased from 5.9% to 4.1% (P<0.01), with only 7% of negative ccffDNA tests leading to invasive procedures versus 60% of positive tests.
Conclusions:
- ccffDNA testing is associated with a significant reduction in invasive diagnostic procedures.
- The findings support ccffDNA as a tool to guide clinical decision-making and potentially decrease procedural risks.
