Preimplantation Genetic Testing for Chromosomal Abnormalities: Aneuploidy, Mosaicism, and Structural Rearrangements

Genes (Basel). 2020 May 29;11(6):602. doi: 10.3390/genes11060602.


There is a high incidence of chromosomal abnormalities in early human embryos, whether they are generated by natural conception or by assisted reproductive technologies (ART). Cells with chromosomal copy number deviations or chromosome structural rearrangements can compromise the viability of embryos; much of the naturally low human fecundity as well as low success rates of ART can be ascribed to these cytogenetic defects. Chromosomal anomalies are also responsible for a large proportion of miscarriages and congenital disorders. There is therefore tremendous value in methods that identify embryos containing chromosomal abnormalities before intrauterine transfer to a patient being treated for infertility-the goal being the exclusion of affected embryos in order to improve clinical outcomes. This is the rationale behind preimplantation genetic testing for aneuploidy (PGT-A) and structural rearrangements (-SR). Contemporary methods are capable of much more than detecting whole chromosome abnormalities (e.g., monosomy/trisomy). Technical enhancements and increased resolution and sensitivity permit the identification of chromosomal mosaicism (embryos containing a mix of normal and abnormal cells), as well as the detection of sub-chromosomal abnormalities such as segmental deletions and duplications. Earlier approaches to screening for chromosomal abnormalities yielded a binary result of normal versus abnormal, but the new refinements in the system call for new categories, each with specific clinical outcomes and nuances for clinical management. This review intends to give an overview of PGT-A and -SR, emphasizing recent advances and areas of active development.

Keywords: PGT-A; PGT-SR; chromosomal abnormality; embryo genetics; mosaicism.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abortion, Spontaneous / diagnosis*
  • Abortion, Spontaneous / genetics
  • Abortion, Spontaneous / pathology
  • Aneuploidy
  • Blastocyst / metabolism
  • Blastocyst / pathology
  • Chromosome Aberrations*
  • Chromosome Disorders / diagnosis*
  • Chromosome Disorders / genetics
  • Chromosome Disorders / pathology
  • Chromosomes / genetics
  • Humans
  • Mosaicism
  • Preimplantation Diagnosis*