Genetic profile of embryos in the assisted reproductive technology program in Kuzbass (Kemerovo) based on the results of preimplantation genetic testing

Objective: to study the frequency and structure of chromosomal abnormalities in embryos obtained as part of ART in Kuzbass women with infertility.

Material and methods: 58 embryos obtained as a result of in vitro fertilization-intracytoplasmic sperm injection (IVF-ICSI) were examined for the presence of aneuploidies at the Center for Family Health and Reproduction «Krasnaya Gorka» by performing (preimplantation genetic testing for aneuploidy) PGT-A.

Results: 60.3% (35) of the embryos contained chromosomal abnormalities. Of these, 77.08% of embryos had aneuploidy, 18.75% had mosaicism, and 4.17% had polyploidy. In the cohort of women whose AMH levels were reduced, 62.5% of embryos had CA. The frequency of CA embryos in women over 35 years of age is 57.1%. Analysis of the CA structure of embryos in a cohort of patients with pathospermia revealed that 57.7% of embryos were euploid. 42.31% of embryos had CA in their genetic profile.

Conclusions: comparing the detected frequency of chromosomal abnormalities (CA) in embryos with the results of studies by foreign colleagues, we can say that the level of euploid, aneuploid and mosaic embryos obtained aſter PGT-A is approximately equal in different populations: 60% of embryos have CA. Among all CA, aneuploidies dominate with a frequency of 77.08%. Among aneuploidies, trisomy of chromosome 16 was prevailed (12.5%). The incidence of mosaicism was 18.75%.

1. Ustinova T.A., Artymuk N.V., Vlasova V.V., Pyzhov A.Y. Infertility in couples of Kemerovo region. Mother and baby in Kuzbass. 2010;1(40):37–39. (In Russ.) eLIBRARY ID: 15204149 EDN: MUSNLP

2. Wu T, Yin B, Zhu Y, Li G, Ye L, et al. Molecular cytogenetic analysis of early spontaneous abortions conceived from varying assisted reproductive technology procedures. Mol Cytogenet. 2016;9:79. https://doi.org/10.1186/s13039-016-0284-2

3. Demikova N.S., Podolnaya M.А., Lapina A.S. Mother’s age as a risk factor of birth defects. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2020;65(2):34-39. (In Russ.) https://doi.org/10.21508/1027-4065-2020-65-2-34-39

4. Palmerola KL, Vitez SF, Amrane S, Fischer CP, Forman EJ. Minimizing mosaicism: assessing the impact of fertilization method on rate of mosaicism aſter next-generation sequencing (NGS) preimplantation genetic testing for aneuploidy (PGT-A). J Assist Reprod Genet. 2019;36(1):153-157. https://doi.org/10.1007/s10815-018-1347-6

5. Domracheva E.V., Aseeva E.A., Raevskaya O.A., Dyakonov S.A. Genotipy poter’. StatusPraesens. Gynecology, obstetrics, infertile marriage. 2018;5(51):121–124. (In Russ.) eLIBRARY ID: 37272078 EDN: ZCMZRR

6. Volkov A.N., Nacheva L.V. Нypeгtriploidy as a cause of early embryonic arrest. Fundamental and Clinical Medicine. 2020;5(1):99-102. (In Russ.) https://doi.org/10.23946/2500-0764-2020-5-1-99-102

7. Li HJ, Seifer DB, Tal R. AMH independently predicts aneuploidy but not live birth per transfer in IVF PGT-A cycles. Reprod Biol Endocrinol. 2023;21(1):19. https://doi.org/10.1186/s12958-023-01066-w

8. Volkov A.N., Rytenkova O.I., Babarykina T.A., Lysenko D.I. The cytogenetic diagnostic of chromosome anomalies under non-developing pregnancy. Clinical laboratory diagnostics. 2017;62(9):553–556. eLIBRARY ID: 30068172 EDN: ZHZNLN

9. Aleksandrova N.V. Anti-Mullerian hormone and its predictive value for assessing oocyte quality. Gynecology. 2020;22(6):21-26. (In Russ.) https://doi.org/10.26442/20795696.2020.6.200473

10. Cuckle H, Morris J. Maternal age in the epidemiology of common autosomal trisomies. Prenat Diagn. 2021;41(5):573-583. https://doi.org/10.1002/pd.5840

11. Sedova A.O., Martemyanova A.I., Chernykh V.B. Aneuploidy in sperm of fertile men and patients with impaired fertility. Andrology and genital surgery. 2021;22(4):27–35. (In Russ.) eLIBRARY ID: 47343782 EDN: LWPYZG