Preimplantation Genetic Testing for Aneuploidy (PGT-A) Reveals High Levels of Chromosomal Errors in In Vivo-Derived Pig Embryos, with an Increased Incidence When Produced In Vitro

Cells. 2023 Mar 2;12(5):790. doi: 10.3390/cells12050790.

Abstract

Preimplantation genetic testing for aneuploidy (PGT-A) is widespread, but controversial, in humans and improves pregnancy and live birth rates in cattle. In pigs, it presents a possible solution to improve in vitro embryo production (IVP), however, the incidence and origin of chromosomal errors remains under-explored. To address this, we used single nucleotide polymorphism (SNP)-based PGT-A algorithms in 101 in vivo-derived (IVD) and 64 IVP porcine embryos. More errors were observed in IVP vs. IVD blastocysts (79.7% vs. 13.6% p < 0.001). In IVD embryos, fewer errors were found at blastocyst stage compared to cleavage (4-cell) stage (13.6% vs. 40%, p = 0.056). One androgenetic and two parthenogenetic embryos were also identified. Triploidy was the most common error in IVD embryos (15.8%), but only observed at cleavage, not blastocyst stage, followed by whole chromosome aneuploidy (9.9%). In IVP blastocysts, 32.8% were parthenogenetic, 25.0% (hypo-)triploid, 12.5% aneuploid, and 9.4% haploid. Parthenogenetic blastocysts arose from just three out of ten sows, suggesting a possible donor effect. The high incidence of chromosomal abnormalities in general, but in IVP embryos in particular, suggests an explanation for the low success of porcine IVP. The approaches described provide a means of monitoring technical improvements and suggest future application of PGT-A might improve embryo transfer success.

Keywords: androgenetic; aneuploidy; cytogenetics; in vitro embryo production; parthenogenetic; porcine.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Algorithms
  • Aneuploidy*
  • Animals
  • Blastocyst / physiology
  • Chromosomes, Mammalian / genetics
  • Embryo Transfer / veterinary
  • Embryo, Mammalian / physiology
  • Embryonic Development
  • Fertilization in Vitro* / veterinary
  • Genetic Testing* / methods
  • Polymorphism, Single Nucleotide
  • Sus scrofa* / embryology
  • Sus scrofa* / genetics
  • Sus scrofa* / physiology

Grants and funding

This research was funded by The Research Council of Norway, grant number 283804; and by the Biotechnology and Biological Sciences Research Council (BBSRC) LINK awards scheme, grant number BB/R00708X/1.