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

Prenat Diagn. 2010 Apr;30(4):325-8. doi: 10.1002/pd.2456.

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.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Chorionic Villi Sampling / adverse effects*
  • Chromosomes, Human, Y / genetics
  • DNA / blood*
  • Female
  • Glyceraldehyde-3-Phosphate Dehydrogenases / genetics
  • Humans
  • Male
  • Pregnancy
  • Sensitivity and Specificity

Substances

  • DNA
  • Glyceraldehyde-3-Phosphate Dehydrogenases