Amniotic fluid stem cells and the cell source repertoire for non-invasive prenatal testing

Stem Cell Rev Rep. 2022 Apr;18(4):1366-1371. doi: 10.1007/s12015-021-10228-5. Epub 2021 Aug 12.

Abstract

Cell-free fetal DNA (cffDNA)-based non-invasive prenatal testing (NIPT) is considered to be a very promising screening tool for pregnant women with an increased risk of fetal aneuploidy. Already millions of women worldwide underwent NIPT. However, due to the observed false-positive and false-negative results, this screening approach does not fulfil the criteria of a diagnostic test. Accordingly, positive results still require risk-carrying invasive prenatal testing, such as amniocentesis or chorionic villus sampling (CVS), for confirmation. Such hurdles need to be overcome before NIPT could become a diagnostic approach widely used in the general population. Here we discuss new evidence that besides the placenta amniotic fluid stem cells (AFSCs) could also represent an origin of cffDNA in the mother's blood. A comprehensive picture of the involved cell source repertoire could pave the way to more reliable interpretations of NIPT results and ameliorate counselling of advice-seeking patients.

Keywords: Amniotic fluid stem cells; Cell-free fetal DNA; Non-invasive prenatal testing; Pregnancy-associated progenitor cells.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amniocentesis
  • Amniotic Fluid
  • Cell-Free Nucleic Acids*
  • Chorionic Villi Sampling
  • Female
  • Humans
  • Pregnancy
  • Prenatal Diagnosis* / adverse effects
  • Prenatal Diagnosis* / methods
  • Stem Cells

Substances

  • Cell-Free Nucleic Acids