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Detection of Cell-Free DNA in Blood Plasma Samples of Cancer Patients

Detection of Cell-Free DNA in Blood Plasma Samples of Cancer Patients

Published on: September 9, 2020

Circulating cell-free DNA levels increase variably following chorionic villus sampling.

Neeta L Vora¹, Kirby L Johnson, Inga Peter

¹Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Tufts Medical Center, Boston, MA 02111, USA.

Prenatal Diagnosis

|February 4, 2010

Summary

Chorionic villus sampling (CVS) does not significantly alter cell-free fetal DNA (cffDNA) levels in maternal plasma, despite individual variations. Further research is needed to identify factors influencing cffDNA release post-procedure.

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Published on: October 20, 2019

Area of Science:

Perinatal Medicine
Molecular Diagnostics
Genetics

Background:

Cell-free fetal DNA (cffDNA) in maternal circulation originates from fetal and placental cell breakdown.
Chorionic villus sampling (CVS) is an invasive prenatal diagnostic procedure.
Understanding potential DNA release post-CVS is crucial for interpreting cffDNA screening tests.

Purpose of the Study:

To investigate whether chorionic villus sampling (CVS) leads to a significant increase in cell-free fetal DNA (cffDNA) or total cell-free DNA in maternal plasma.
To assess the impact of CVS on fetal and maternal DNA levels.

Main Methods:

Maternal blood samples were collected from 52 women before and immediately after CVS (10-14 weeks gestation).
Plasma was analyzed for cell-free fetal DNA (cffDNA) using quantitative PCR targeting the Y chromosome (DYS1) and for total DNA using GAPDH.
Analysis was performed in triplicate, blinded to fetal gender.

Main Results:

The assay demonstrated 100% sensitivity and specificity for detecting fetal DNA in male and female fetuses, respectively.
While many women showed increased DNA levels post-CVS, the overall median proportional changes in both fetal and total DNA were not statistically significant.
No correlation was found between DNA level changes and gestational age, placental location, or the CVS operator.

Conclusions:

Chorionic villus sampling (CVS) does not result in statistically significant overall changes in cell-free DNA levels in maternal plasma.
Individual variations in DNA levels post-procedure suggest that other, yet unidentified, factors may influence cffDNA release.
Further investigation is warranted to explore these potential influencing variables.