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Research and Reports in Gynecology and Obstetrics | Volume 3
November 14-15, 2019 | Singapore
Obstetrics and Gynecology
4th International Conference on
Preimplantation genetic testing for aneuploidy: New improvements with non-
invasive liquid biopsy technique
Jan Tesarik
Clinica MARGen, Spain
P reimplantation genetic testing for aneuploidy (PGTA) was
originally performed by analyzing the first and the second
polar body. However, it has later been increasingly performed
by sampling trophectoderm (TE) cells from blastocysts.
Recently, there is increasing concern about the reliability
of this technique which has actually never been tested
sufficiently in animal models and human preclinical studies.
The main problems of PGTA using TE biopsy can be resumed
as follows: (1) The frequency of aneuploid TE cells does not
necessarily reflect that in the inner cell mass (ICM) which will
give rise to the future fetus, (2) the distribution of euploid and
aneuploid TE cells is not random but rather clonal, making it
impossible to obtain reliable information about the frequency
of aneuploidy in the whole embryo, and (3) the removal of TE
cells is inherently traumatic, can decrease embryo implantation
potentialandproducelong-termeffectsontheoffspringhealth.
Since, in many cases, PGTA is performed in older women, with
only fewand relatively fragile embryos, the technique based on
TE biopsy can lead to an irreparable damage due to accidental
embryo destruction or voluntary destruction of viable embryos
deemed aneuploid because of a false positive PGTA result. By
contrast, PGTA using non-invasive liquid biopsy is based on
analysis of cell-free DNA released both from TE and ICM cells
to culture medium, thus allowing a more objective ploidy
evaluation of the whole embryo. Here I present the latest data
obtained by comparing ploidy evaluation results obtained from
cell-free DNA analysis with those obtained by analysis of DNA
obtained from whole embryos donated for research from
consenting patients. These results show clearly the superiority
of non-invasive PGTA based on liquid biopsy (cell-free DNA)
fromspent culturemedia over the conventional TE biopsy, with
a considerable reduction of interpretation errors.
Speaker Biography
Jan Tesarik obtained his MD degree in 1979 and PhD in 1982. From 1989
he worked at the Americaan Hospital of Paris and achieved the world’s first
childbirths after round spermatid injection (ROSI) into oocyte cytoplasm.
In 1998 he achieved, in Istanbul, the world’s first childbirth after oocyte
fertilization with spermatids obtained by in vitro spermatogenesis. He
developed an original technique for nuclear transfer in mature human
oocytes (Rome, 2000) and achieved the first fertilizable human “artificial
oocytes” reconstructed from somatic cell nuclei and donor ooplasts (Sao
Paulo, 2001). He described beneficial effects of growth hormone on oocyte
quality inwomenof isauthorof>400scientificpublications,
including 307 highly influential publications listed in Semantic Scholar. At
present he is Director of MARGen (Molecular Asssisted Reproduction and
Genetics) Clinic in Granada (Spain) and coordinates different research
projects carried out at the University of Granada.
e:
Jan Tesarik, Res Rep Gynaecol Obstet, Volume:3
DOI: 10.35841/2591-7366-C3-009