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

Neeta L. Vora, Kirby L. Johnson, Inga Peter, Hocine Tighiouart, Steven J. Ralston, Sabrina D. Craigo, Diana W. Bianchi

Research output: Contribution to journalArticlepeer-review

20 Scopus citations


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.

Original languageEnglish
Pages (from-to)325-328
Number of pages4
JournalPrenatal Diagnosis
Issue number4
StatePublished - Apr 2010


  • CVS
  • Cell-free DNA
  • Prenatal diagnosis


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