Total cell-free DNA (beta-globin gene) distribution in maternal plasma at the second trimester: a new prospective for preeclampsia screening

Prenat Diagn. 2004 Sep;24(9):722-6. doi: 10.1002/pd.973.

Abstract

Objectives: Levels of cell-free foetal DNA (f-DNA) in maternal plasma are higher in those asymptomatic subjects who will eventually develop preeclampsia. f-DNA is, however, informative only for those women bearing a male foetus, by amplification of Y-specific sequences and represents a small fraction of total circulating DNA that can be dosed by using ubiquitous genes as well as beta-globin. In this study, we examined the quantitative distribution of total DNA by amplification of beta-globin gene, in asymptomatic women matched with controls to evaluate its possible role in predicting preeclampsia.

Methods: Forty-eight low-risk women (8 asymptomatic cases matched for gestational age at the second trimester with 40 controls) were enrolled in the present study. beta-globin concentrations were converted into multiples of the median of the controls (MoM), in order to assess the possible different distribution of beta-globin MoM in cases and controls.

Results: MoM values were as follows: controls, 1.00 +/- 0.59; asymptomatic cases, 1.99 +/- 1.95. After Gaussian conversion of data, at a false-positive rate (FPR) of 5%, the detection rate (DR) was 46%.

Conclusion: beta-globin (total DNA) levels are higher in those patients who subsequently developed preeclampsia and can potentially be used in screening for early detection of the disease. These findings represent a step forward in the study of cell-free DNA in maternal blood as a screening variable, because it overcomes the gender limitations of foetal DNA screening.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers / blood
  • Case-Control Studies
  • DNA / blood*
  • Female
  • Fetal Blood / chemistry*
  • Globins / analysis*
  • Globins / genetics
  • Humans
  • Maternal-Fetal Exchange
  • Pre-Eclampsia / blood
  • Pre-Eclampsia / diagnosis*
  • Pregnancy
  • Pregnancy Trimester, Second
  • Prenatal Diagnosis / methods*

Substances

  • Biomarkers
  • Globins
  • DNA