Noninvasive prenatal detection of aneuploidy

Clin Obstet Gynecol. 2014 Mar;57(1):210-25. doi: 10.1097/GRF.0000000000000016.


Noninvasive prenatal testing (NIPT) uses cell-free fetal DNA from the plasma of pregnant women to provide valuable information about the potential risks for fetal aneuploidy. This article provides a historical overview of both invasive diagnostic testing and serum screening approaches, both biochemical and the newer molecular noninvasive prenatal testing assays, used to identify patients who would be best served by invasive testing.

Publication types

  • Historical Article
  • Review

MeSH terms

  • Amniocentesis / history
  • Amniocentesis / methods*
  • Aneuploidy
  • Chorionic Villi Sampling / history
  • Chorionic Villi Sampling / methods*
  • DNA / analysis*
  • Down Syndrome / diagnosis*
  • Down Syndrome / genetics
  • Female
  • Genetic Testing / methods*
  • History, 20th Century
  • History, 21st Century
  • Humans
  • Pregnancy
  • Prenatal Diagnosis / methods*


  • DNA