The mechanisms and clinical application of mosaicism in preimplantation embryos

J Assist Reprod Genet. 2020 Mar;37(3):497-508. doi: 10.1007/s10815-019-01656-x. Epub 2019 Dec 14.

Abstract

Embryos containing distinct cell lines are referred to as mosaic embryos, which are considered to be caused by mitotic errors in chromosome segregation during preimplantation development. As the accuracy and resolution of detection techniques improve, more and more mosaic embryos were identified recently. The impacts of mosaic embryos on survival and potential pregnancy outcome have been reported to be diverse in different studies. Because of the universality and clinical significance of mosaicism, it is essential to unravel the mechanisms and consequences with regard to this phenomenon in human pre- and post-implantation embryos. The purpose of this review is to explore the mechanisms, causes of mosaicism, and the development of pre- and post-implantation mosaic embryos in the light of recent emerging data, with the aim of providing new references for clinical applications.

Keywords: Chromosome; Inner cell mass; Mosaicism; Non-invasion preimplantation genetic testing; Preimplantation genetic testing; Trophectoderm.

Publication types

  • Review

MeSH terms

  • Blastocyst*
  • Chromosome Segregation / genetics*
  • Embryo Implantation / genetics
  • Embryonic Development / genetics*
  • Female
  • Genetic Testing
  • Humans
  • Mosaicism / embryology*
  • Pregnancy
  • Pregnancy Outcome
  • Preimplantation Diagnosis
  • Reproductive Techniques, Assisted / trends