On the possibility of mosaic embryos transfer in the programmes of assisted reproductive technologies
Sidorchuk M.A., Ekimov A.N., Karetnikova N.A., Zaretskaya N.V., Sadelov I.O., Stupko O.K.
Chromosomal mosaicism is a common finding in human embryos.
Objective: To determine the possibility of mosaic embryos transfer in the absence of euploid embryos and the importance of medical genetic counseling.
Materials and methods: 15 women with no prospects for obtaining euploid embryos were examined in the Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia during the period of 2022–2024. Preimplantation genetic testing (PGT) of all embryos was performed by high-performance next-generation sequencing on the Illumina platform (AneuPGT). Confirmatory prenatal diagnostics in 5 (33.3%) cases was performed in amniotic fluid by chromosomal microarray analysis and in one case a FISH method was additionally used.
Results: The following chromosomes were involved in mosaicism: 2, 5, 7, 8, 9, 10, 11, 14, 15, 16, 19, 20, 22, Y. Among the 16 (two mosaic embryos were transferred in one case) analyzed embryos, 10 (62.5%) had numerical mosaicism and in 6 (37.5%) embryos segmental mosaicism was found. Successful implantation occurred in 10 cases (with 5 cases of segmental mosaicism and 5 cases of numerical mosaicism), in one case a 9-week non-developing pregnancy took place, in 4 cases pregnancy did not occur. Afterwards 10 clinically healthy children were born.
Conclusion: Selection and transfer of mosaic embryos is possible and indicated for spouses with a burdened medical history and reduced reproductive potential according to medical genetic counseling, which allows the couple to give birth to a healthy child in the absence of euploid embryos.
Authors’ contributions: Karetnikova N.A. – study concept and design, manuscript editing, genetic counseling; Zaretskaya N.V. – general supervision, genetic counseling; Sidorchuk M.A. – data collection and processing, statistical processing; Ekimov A.N. – conduction of PGT using NGS-method; Sadelov I.O., Stupko O.K. – conduction of prenatal genetic and cytogenetic testing.
Conflicts of interest: The authors declare no conflicts of interest.
Funding: The study had no sponsorship.
Ethical Approval: The study was approved by the local ethics committee of the Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia.
Patient Consent for Publication: All patients provided informed consent for the publication of their data.
Authors' Data Sharing Statement: The data supporting the findings of this study are available on request from the corresponding author after approval from the principal investigator.
For citation: Sidorchuk M.A., Ekimov A.N., Karetnikova N.A., Zaretskaya N.V., Sadelov I.O., Stupko O.K. On the possibility of mosaic embryos transfer in the programmes of assisted reproductive technologies.
Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2025; (9): 109-116 (in Russian)
https://dx.doi.org/10.18565/aig.2025.153
Keywords
assisted reproductive technologies (ART)
mosaic embryos
preimplantation genetic testing for aneuploidies (PGT-A)
invasive prenatal diagnostics (IPD)
genetic counseling (MGC)
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Received 11.06.2025
Accepted 01.09.2025
About the Authors
Mariia A. Sidorchuk, Geneticist at the Department of Clinical Genetics, Institute of Reproductive Genetics, Academician V.I. Kulakov National Medical Research Centerfor Obstetrics, Gynecology and Perinatology, Ministry of Health of the Russian Federation, 117997, Russia, Moscow, Ac. Oparin str., 4, +7(977)4470373,
m_sidorchuk@oparina4.ru, https://orcid.org/0009-0008-1373-7905
Alexey N. Ekimov, PhD, Head of the Laboratory of Preimplantation Genetic Testing and Genetic Diagnostics, Institute of Reproductive Genetics, Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of the Russian Federation, 117997, Russia, Moscow, Ac. Oparin str., 4, +7(926)980-58-60, a_ekimov@oparina4.ru, https://orcid.org/0000-0001-5029-0462
Natalia A. Karetnikova, Dr. Med. Sci., Obstetrician-Gynecologist, Geneticist, Leading Researcher at the Department of Clinical Genetics, Institute of Reproductive Genetics, Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of the Russian Federation,
117997, Russia, Moscow, Ac. Oparin str., 4, +7(495)438-24-10, n_karetnikova@oparina4.ru, https://orcid.org/0000-0002-5060-8239
Nadezhda V. Zaretskaya, PhD, Obstetrician-Gynecologist, Geneticist at the Department of Clinical Genetics, Institute of Reproductive Genetics, Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of the Russian Federation, 117997, Russia, Moscow, Ac. Oparin str., 4, +7(495)438-24-11, n_zaretskaya@oparina4.ru, https://orcid.org/0000-0001-6754-3833
Igor O. Sadelov, Geneticist of Laboratory of Genomic Data Analysis, Institute of Reproductive Genetics, Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of the Russian Federation, 117997, Russia, Moscow, Ac. Oparin str., 4, +7(495)438-24-10,
i_sadelov@oparina4.ru, https://orcid.org/0000-0002-5144-6307
Olga K. Stupko, Cytogeneticist at the Laboratory of Molecular Genetic Methods, Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of the Russian Federation, 117997, Russia, Moscow, Ac. Oparin str., 4, +7(916)621-76-15, o_stupko@oparina4.ru,
https://orcid.org/0009-0000-7205-1964
Сorresponding author: Mariia A. Sidorchuk, m_sidorchuk@oparina4.ru
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