Circulating cell‐free DNA levels increase variably following chorionic villus sampling

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Abstract
Objective Cell‐free fetal DNA (cffDNA) in maternal plasma results from degradation of fetal and/or placental cells. Our objective was to determine if chorionic villus sampling (CVS) causes increased release of fetal and/or maternal DNA. Methods Fifty‐two pregnant women were recruited prior to CVS, performed for clinical indications, at 10 5/7 to 13 2/7 weeks. Maternal blood was collected before and within 15 min after CVS. cffDNA was extracted from plasma. Real‐time polymerase chain reaction (PCR) amplification of glyceraldehyde‐3‐phosphate dehydrogenase (GAPDH) and the Y chromosome sequence DYS1 were used as measures of total and fetal DNA, respectively. All samples were analyzed in triplicate without knowledge of fetal gender. Results Sensitivity of DYS1 detection in male fetuses was 100% (n = 30); specificity in female fetuses was 100% (n = 22). While a majority of women had > 50% post‐procedure increases in both fetal and total DNA, some showed post‐procedure decreases. However, overall median proportional increases were not statistically significant. Gestational age (GA), placental location, and individual CVS operator did not correlate with changes in DNA levels. Conclusions While there were no statistically significant overall changes in DNA levels after CVS, as‐yet undiscovered variables may influence the extent of post‐procedure release of cell‐free DNA in the circulation of pregnant women. Copyright © 2010 John Wiley & Sons, Ltd.
Funding Information
  • NIH (2R01 HD42053-06, 5T32 HD049341-04)

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