The primary aim of the study is to determine the genomic profile of early arrested embryos and
abortions and their parents to find genetic variants related to the etiology of preimplantation
embryo arrest and recurrent early pregnancy loss. The identification of specific causative
pathogenic genetic recessive variants will help to improve the management of coupes with
reproductive failures.
Secondary goals include the creation of biobanks of: 1) trios DNA samples (embryo-parental
DNA and abortion-parental DNA); 2) culture medium samples for future embryo secretome,
metabolome, proteome, mirnome etc. analysis. Secretome analysis of culture medium, in which
the embryo develops, represents a non-invasive approach to assess the quality and
competence of the embryo.
A significant proportion of early embryonic arrests are due to aneuploidies. However, a large
percentage of euploid embryos still fail to implant. Therefore, studies on the possible single
gene defects involved in early embryonic arrest, implantation failures and early pregnancy loss
are required. We expect to reveal new, previously unreported rare genetic variants, which could
be included in open-access international databases and which can contribute to further research
on this topic.
We expect to elucidate the mechanisms of reproductive failure in a significant proportion of
patients and the obtained data could contribute to the broadening of the spectrum of etio-
pathogenic causes of infertility and unsuccessful in vitro procedures.
The ultimate goal of the project is to apply the results in clinical practice to help delineate more
precise sub phenotypes of reproductive failure and thus offer precision medicine-driven
management of couples with idiopathic infertility. In the future, the findings could also be used
for the identification of effective targets and the design of new therapies. This will pave the way
for personalized reproductive healthcare.