Clinical Significance of Monogenic Mutations in the Euploid Embryo Genome Associated with Miscarriage

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Abstract

Background. Chromosomal abnormalities of the embryo are the most common cause of miscarriage. However, at least 100 thousand cases of repeated pregnancy losses occur annually in the world, in which cytogenetic methods determine the chromosome euploid set in the abortive material. One of the causes of miscarriage is probably the loss of function of certain genes. It is assumed that the detection of genetic factors determining the etiology of pregnancy loss can help to develop personalized methods of diagnosis and preconception care in cases where the classical approach with chromosomal analysis is insufficient.

Aims — to analyze the experience of genetic testing of euploid embryos and identify the most significant genetic variants in miscarriage.

Methods. A search was conducted for sources of scientific literature in the PubMed and RSCI (elibrary) databases. The search for full-text articles was carried out on the websites of journals and using the ResearchGate database. The review included articles published in peer-reviewed scientific publications in the period from 2013 to 2023.

Results. Studies conducted on animals and analysis of human embryos during miscarriage have revealed a list of genes which loss of function may be associated with embryolethality. Analyzing the data of the scientific literature, we concluded that a number of genes potentially related to miscarriage can lead to various diseases in the postnatal period.

Conclusions. Scientific research aimed at finding monogenic causes of miscarriage is of great scientific and practical importance, since it can contribute to improving the algorithm of examination and pre-conception preparation of married couples with a history of pregnancy loss.

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About the authors

Elena V. Kudryavtseva

Ural State Medical University

Author for correspondence.
Email: elenavladpopova@yandex.ru
ORCID iD: 0000-0003-2797-1926
SPIN-code: 7232-3743

MD, PhD, Assistant Professor

Россия, Yekaterinburg

Olga P. Kovtun

Ural State Medical University

Email: usma@usma.ru
ORCID iD: 0000-0002-5250-7351
SPIN-code: 9919-9048

MD, PhD, Professor, Academician of the RAS

Россия, Yekaterinburg

Vladislav V. Kovalev

Ural State Medical University

Email: vvkovakev55@gmail.com
ORCID iD: 0000-0001-8640-8418
SPIN-code: 2061-0704

MD, PhD, Professor

Россия, Yekaterinburg

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