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PGT-A: Houston, we have a problem.

Robert F Casper1

  • 1TRIO Fertility, The University of Toronto and the Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, ON, Canada. casper@lunenfeld.ca.

Journal of Assisted Reproduction and Genetics
|August 17, 2023
PubMed
Summary
This summary is machine-generated.

Preimplantation genetic testing for aneuploidy (PGT-A) may harm IVF outcomes, especially for women with few embryos. Current methods face challenges with embryo mosaicism and amplification artifacts, questioning its clinical benefit.

Keywords:
Clonal depletionClonal expansionFalse positiveIVFIn vitro fertilizationMosaicismPGT-APreimplantation genetic testing for aneuploidySelf-correctionTrophectoderm biopsy

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Area of Science:

  • Reproductive Medicine
  • Genetics
  • Embryology

Background:

  • Preimplantation genetic testing for aneuploidy (PGT-A) is frequently used in IVF.
  • It involves whole genome amplification of trophectoderm cells for chromosomal analysis.

Purpose of the Study:

  • To evaluate the clinical effectiveness and potential harms of PGT-A in IVF cycles.
  • To address limitations associated with current PGT-A methodologies.

Main Methods:

  • Analysis of clinical data on IVF outcomes related to PGT-A.
  • Examination of technical limitations including whole genome amplification artifacts and embryo mosaicism.

Main Results:

  • PGT-A may negatively impact IVF outcomes, particularly when analyzed by intention-to-treat or live birth rate per cycle started.
  • Technical issues like allele dropout, loss of heterozygosity, and mosaicism complicate accurate PGT-A interpretation.
  • Potential benefits such as reduced miscarriage rates may be minimal.

Conclusions:

  • Current PGT-A practices may be detrimental to IVF success, especially for patients with limited blastocyst availability.
  • The interpretation of PGT-A results is challenged by inherent technical limitations and embryo biology.
  • Further research is needed to refine PGT-A techniques and clarify its role in optimizing IVF outcomes.