Is there still a rationale for non-invasive PGT-A by analysis of cell-free DNA released by human embryos into culture medium?

Raoul Orvieto, Adva Aizer, Norbert Gleicher

Research output: Contribution to journalArticlepeer-review

Abstract

Human embryos utilise an array of processes to eliminate the very high prevalence of aneuploid cells in early embryo stages. Human embryo self-correction was recently demonstrated by their ability to eliminate/expel abnormal blastomeres as cell debris/fragments. A whole genome amplification study has demonstrated that 63.6% of blastocysts expelled cell debris with abnormal chromosomal rearrangements. Moreover, 55.5% of euploid blastocysts expel aneuploid debris, strongly suggesting that the primary source of cell free DNA in culture media is expelled aneuploid blastomeres and/or their fragments. Such a substantial ability to self-correct downstream from the blastocyststage, therefore, renders any chromosomal diagnosis at the blastocyststage potentially useless, and this, unfortunately, also must particularly include non-invasive PGT-A based on cell-free DNA in spent medium. High rates of false-positive diagnoses of human embryos often lead to non-use and/or disposal of embryos with entirely normal pregnancy potential. Before adopting yet another round of unvalidated PGT-A as a routine adjunct to IVF, we here present facts that deserve to be considered.

Original languageEnglish
Pages (from-to)1186-1190
Number of pages5
JournalHuman Reproduction
Volume36
Issue number5
DOIs
StatePublished - 20 Apr 2021

Keywords

  • assisted reproductive technique / cell-free DNA / human embryos / in-vitro fertilisation / non-invasive / preimplantation genetic testing for aneuploidy / self-correction

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