Prenatal detection of fetal Down's syndrome from maternal plasma

Lancet. 2000 Nov 25;356(9244):1819-20. doi: 10.1016/s0140-6736(00)03237-2.

Abstract

Fetal DNA is present in maternal plasma, and a proportion of such DNA is seen in intact fetal cells. We investigated the use of fluorescence in-situ hybridisation (FISH) techniques on maternal plasma samples. In plasma samples obtained from three women carrying fetuses affected by trisomy 21 (Down's syndrome), we identified fetal cells with three chromosome-21 signals. These results show the feasibility of non-invasive detection of fetal chromosomal aneuploidy by maternal plasma analysis.

Publication types

  • Clinical Trial
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Down Syndrome / diagnosis*
  • Down Syndrome / embryology
  • Feasibility Studies
  • Female
  • Fetal Diseases / diagnosis*
  • Humans
  • In Situ Hybridization, Fluorescence*
  • Male
  • Pregnancy
  • Prenatal Diagnosis*