Single-cell sequencing shows mosaic aneuploidy in most human embryos
Files
(Published version)
Date
2024
Authors
Robertson, S.A.
Richards, R.I.
Editors
Advisors
Journal Title
Journal ISSN
Volume Title
Type:
Journal article
Citation
Journal of Clinical Investigation, 2024; 134(6):e179134-1-e179134-5
Statement of Responsibility
Sarah A. Robertson, Robert I. Richards
Conference Name
Abstract
Mammalian preimplantation embryos often contain chromosomal defects that arose in the first divisions after fertilization and affect a subpopulation of cells - an event known as mosaic aneuploidy. In this issue of the JCI, Chavli et al. report single-cell genomic sequencing data for rigorous evaluation of the incidence and degree of mosaic aneuploidy in healthy human in vitro fertilization (IVF) embryos. Remarkably, mosaic aneuploidy occurred in at least 80% of human blastocyst-stage embryos, with often less than 20% of cells showing defects. These findings confirm that mosaic aneuploidy is prevalent in human embryos, indicating that the process is a widespread event that rarely has clinical consequences. There are major implications for preimplantation genetic testing of aneuploidy (PGT-A), a test commonly used to screen and select IVF embryos for transfer. The application and benefit of this technology is controversial, and the findings provide more cause for caution on its use.
School/Discipline
Dissertation Note
Provenance
Description
Access Status
Rights
© 2024, Robertson et al. This is an open access article published under the terms of the Creative Commons Attribution 4.0 International License