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Non-invasive pre-implantation genetic testing of human embryos: an emerging concept

Journal

HUMAN REPRODUCTION
Volume 33, Issue 12, Pages 2162-2167

Publisher

OXFORD UNIV PRESS
DOI: 10.1093/humrep/dey314

Keywords

pre-implantation genetic testing; non-invasive; human embryos; blastocoel fluid; spent culture medium; embryo biopsy; cell-free DNA

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The accurate genetic screening of pre-implantation embryos currently entails the use of technically challenging and biologically invasive biopsies of the human embryos. Investigating a more conservative sampling approach has emerged as a timely and desired alternative. Circulating cell-free embryonic DNA is present in the blastocoel fluid and spent culture media of blastocysts, and this has lately been sought as an attractive source of genetic information. The genetic analysis of cell-free embryonic DNA has been reported, to be useful in evaluating the genetic constitution of embryos; thus, providing a potential alternative to conventional biopsy-derived pre-implantation genetic testing (PGT). In this review, we have summarized these non-invasive alternative applications of PGT and discussed their current limitations and future clinical implications.

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