Characteristics of embryonic mosaicism in infertility treatment with assisted reproductive technologies


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Abstract

Relevance. Although preimplantation genetic testing for aneuploidy (PGT-A) has become a routine practice in ART, it is essential to assess its results accurately. Embryonic mosaicism is one of the reasons for errors in the interpretation of PGT-A results. Materials and methods. Trophectoderm biopsy samples from 17 embryos were analyzed using next-generation sequencing (NGS). All embryos were aneuploid. They were divided into three parts: cells of the inner cell mass (ICM), trophectoderm No.1, and trophectoderm No.2. Results. Additional chromosomal abnormalities were found in cell samples from different parts of the embryo. The No.1 embryo had a deletion and duplication in cells of ICM in one of the chromosomes, and monosomy was found in the sample of trophectoderm No. 2. There was a duplication in cells of ICM in embryo No. 2. Conclusion. The findings suggest that a biopsy of a part of the trophectoderm may not be representative of all trophectoderm and ICM cells. Therefore, first-trimester screening between 11 and 13 weeks gestation should be recommended for women with infertility planning to undergo ART.

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About the authors

Natalia P. Makarova

V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: np_makarova@oparina4.ru
Dr. Biol. Sci., Senior Researcher at the B.V. Leonov Department of Assisted Technologies for the Treatment of Infertility

Alexey N. Ekimov

V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: a_ekimov@oparina4.ru
Clinical Geneticist at the Molecular Genetics Laboratory

Elena V. Kulakova

V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: e_kulakova@oparina4.ru
Ph.D., Senior Researcher at the B.V. Leonov Department of Assisted Technologies for the Treatment of Infertility

Yulia S. Drapkina

V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: julia.drapkina@gmail.com
Ph.D., Obstetrition-Gynecologist at the B.V. Leonov Department of Assisted Technologies for the Treatment of Infertility

Anastasia P. Sysoeva

V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: a_sysoeva@oparina4.ru
embryologist at the Department of Assisted Reproductive Technologies in the Treatment of Infertility

Natalya A. Krasnova

V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: dr.krasnova@rambler.ru
Ph.D., Teaching Assistant at the Department of Obstetrics, Gynecology, Perinatology and Reproductology

Elena A. Kalinina

V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: e_kalinina@oparina4.ru
Dr. Med. Sci., Professor, Head of the Department of Assisted Technologies for the Treatment of Infertility, Scientific Secretary of the Dissertation Council

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