Fetal DNA in maternal plasma

Ann N Y Acad Sci. 2000 Apr;906:141-7. doi: 10.1111/j.1749-6632.2000.tb06604.x.


Recently, cell-free fetal DNA has been found in maternal plasma and serum. This discovery opens up a new field of investigation and provides an easily accessible source of fetal genetic material for prenatal diagnosis. Prenatal diagnostic applications of fetal DNA in maternal plasma include the investigation of sex-linked disorders and fetal rhesus D status determination. Cell-free fetal DNA has been found to be present in much higher fractional concentrations than fetal nucleated cells in maternal blood. The concentration of fetal DNA increases throughout pregnancy, with a sharp rise towards the end of gestation. Abnormally high levels of cell-free DNA have been found in pregnancies complicated by preeclampsia and preterm labor, an observation that has potential diagnostic and pathophysiologic implications. Much remains to be learned regarding the mechanisms of production and clearance of maternal plasma fetal DNA. It is hoped that the eagerly awaited answers to these and other questions may ultimately enhance our understanding of the fetomaternal relationship.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell-Free System
  • DNA / blood*
  • Female
  • Fetus / metabolism*
  • Humans
  • Maternal-Fetal Exchange*
  • Pregnancy / blood*
  • Prenatal Diagnosis / methods


  • DNA