Анеуплоидия и мозаицизм: медико-социальная значимость и совершенствование диагностики

1. Zhang C., Yan L., Qiao J. Effect of advanced parental age on pregnancy outcome and offspring health. J. Assist. Reprod. Genet. 2022; 39(9): 1969-86. https://dx.doi.org/10.1007/s10815-022-02533-w
2. Vitagliano A., Paffoni A., Viganò P. Does maternal age affect assisted reproduction technology success rates after euploid embryo transfer? A systematic review and meta-analysis. Fertil. Steril. 2023; 120(2): 251-65. https://dx.doi.org/10.1016/j.fertnstert.2023.02.036
3. Morris G., Mavrelos D., Odia R., Viñals Gonzalez X., Cawood S., Yasmin E. et al. Paternal age over 50 years decreases assisted reproductive technology (ART) success: A single UK center retrospective analysis. Acta Obstet. Gynecol. Scand. 2021; 100(10): 1858-67. https://dx.doi.org/10.1111/aogs.14221
4. Hanson B.M., Kim J.G., Osman E.K., Tiegs A.W., Lathi R.B., Cheng P.J. et al. Impact of paternal age on embryology and pregnancy outcomes in the setting of a euploid single-embryo transfer with ejaculated sperm: retrospective cohort study. F S Rep. 2020; 1(2): 99-105 https://dx.doi.org/10.1016/j.xfre.2020.06.004
5. Молчанова А.В., Панкрушина А.Н. Исследование структурных хромосомных перестроек у эмбрионов человека. Вестник Тверского государственного университета. Серия: Биология и экология. 2024; 2(74): 36-46.
6. Rana B., Lambrese K., Mendola R., Xu J., Garrisi J., Miller K. et al. Identifying parental and cell-division origins of aneuploidy in the human blastocyst. Am. J. Hum. Genet. 2023; 110(4): 565-74. https://dx.doi.org/10.1016/j.ajhg.2023.03.003
7. Краснопольская К.В., Самойлова А.А., Исакова К.М., Конькова А.Л., Бочарова Т.В. Характеристика плоидного статуса эмбрионов с различной морфокинетической оценкой по шкале KIDSCORE D5 у женщин оптимального и старшего репродуктивного возраста. Международный научно-исследовательский журнал. 2024; 8(146).
8. Arnanz A., Bayram A., Elkhatib I., Abdala A., El-Damen A., Patel R. et al. Antimüllerian hormone (AMH) and age as predictors of preimplantation genetic testing for aneuploidies (PGT-A) cycle outcomes and blastocyst quality on day 5 in women undergoing in vitro fertilization (IVF). J. Assist. Reprod. Genet. 2023; 40(6): 1467-77. https://dx.doi.org/10.1007/s10815-023-02805-z
9. Pirtea P., Cedars M.I., Devine K., Ata B., Franasiak J., Racowsky C. et al. Recurrent implantation failure: reality or a statistical mirage?: Consensus statement from the July 1, 2022 Lugano Workshop on recurrent implantation failure. Fertil. Steril. 2023; 120(1): 45-59. https://dx.doi.org/10.1016/j.fertnstert.2023.02.014
10. Society for Assisted Reproductive Technology. Preliminary National Summary Report for 2022. Available at: https://www.sartcorsonline.com/rptCSR_PublicMultYear.aspx?reportingYear=2022 (accessed October 02, 2024).
11. Rajendran S., Brendel M., Barnes J., Zhan Q., Malmsten J.E., Zisimopoulos P. et al. Automatic ploidy prediction and quality assessment of human blastocysts using time-lapse imaging. Nat. Commun. 2024; 15(1): 7756. https://dx.doi.org/10.1038/s41467-024-51823-7
12. Zegers-Hochschild F., Crosby J.A., Musri C., Petermann-Rocha F., Souza M.D.C.B., Martinez A.G. et al.; Latin American Network of Assisted Reproduction. ART in Latin America: the Latin American Registry, 2020. JBRA Assist. Reprod. 2023; 27(3): 514-38. https://dx.doi.org/10.5935/1518-0557.20230025
13. Smeenk J., Wyns C., De Geyter C., Kupka M., Bergh C., Cuevas Saiz I. et al.; European IVF Monitoring Consortium (EIM) for the European Society of Human Reproduction and Embryology (ESHRE). ART in Europe, 2019: results generated from European registries by ESHRE. Hum. Reprod. 2023; 38(12): 2321-38. https://dx.doi.org/10.1093/humrep/dead197
14. Calhaz-Jorge C., Smeenk J., Wyns C., De Neubourg D., Baldani D.P., Bergh C. et al. European IVF-Monitoring Consortium (EIM) for the European Society of Human Reproduction and Embryology (ESHRE); Survey on ART and IUI: legislation, regulation, funding, and registries in European countries-an update. Hum. Reprod. 2024; 39(9): 1909-24. https://dx.doi.org/10.1093/humrep/deae163
15. Cram D.S., Leigh D., Handyside A., Rechitsky L., Xu K., Harton G. et al. PGDIS Position Statement on the Transfer of Mosaic Embryos 2019. Reprod. Biomed. Online. 2019; 39 Suppl. 1: e1-e4. https://dx.doi.org/10.1016/j.rbmo.2019.06.012
16. Vlajkovic T., Grigore M., van Eekelen R., Puscasiu L. Day 5 versus day 3 embryo biopsy for preimplantation genetic testing for monogenic/single gene defects. Cochrane Database Syst. Rev. 2022; 11(11): CD013233. https://dx.doi.org/10.1002/14651858.CD013233.pub2
17. Özer L., Aktuna S., Unsal E., Baltaci A., Baltaci V. An incidental detection of a cryptic complex chromosome rearrangement found during NGS based PGT-SR: A case report. J. Reprod. Infertil. 2022; 23(4): 303-9. https://dx.doi.org/10.18502/jri.v23i4.10817
18. Gleicher N., Albertini D.F., Barad D.H., Homer H., Modi D., Murtinger M. et al.; International Do No Harm Group in IVF (IDNHG-IVF). The 2019 PGDIS position statement on transfer of mosaic embryos within a context of new information on PGT-A. Reprod. Biol. Endocrinol. 2020; 18(1): 57. https://dx.doi.org/10.1186/s12958-020-00616-w
19. Rhon-Calderon E.A., Hemphill C.N., Vrooman L.A., Rosier C.L., Lan Y., Ord T. et al. Trophectoderm biopsy of blastocysts following IVF and embryo culture increases epigenetic dysregulation in a mouse model. Hum. Reprod. 2024; 39(1): 154-76. https://dx.doi.org/10.1093/humrep/dead238
20. Alteri A., Cermisoni G.C., Pozzoni M., Gaeta G., Cavoretto P.I., Viganò P. Obstetric, neonatal, and child health outcomes following embryo biopsy for preimplantation genetic testing. Hum. Reprod. Update. 2023; 29(3): 291-306. https://dx.doi.org/10.1093/humupd/dmad001
21. Cornelisse S., Zagers M., Kostova E., Fleischer K., van Wely M., Mastenbroek S. Preimplantation genetic testing for aneuploidies (abnormal number of chromosomes) in in vitro fertilisation. Cochrane Database Syst. Rev. 2020; 9(9): CD005291. https://dx.doi.org/10.1002/14651858.CD005291.pub3
22. Yan J., Qin Y., Zhao H., Sun Y., Gong F., Li R. et al. Live birth with or without preimplantation genetic testing for aneuploidy. N. Engl. J. Med. 2021; 385(22): 2047-58. https://dx.doi.org/10.1056/NEJMoa2103613
23. Olive E., Bull C., Gordon A., Davies-Tuck M., Wang R., Callander E. Economic evaluations of assisted reproductive technologies in high-income countries: a systematic review. Hum. Reprod. 2024; 39(5): 981-91. https://dx.doi.org/10.1093/humrep/deae039
24. Jin J., Ma J., Wang X., Hong F., Zhang Y., Zhou F. et al. Multi-omics PGT: re-evaluation of euploid blastocysts for implantation potential based on RNA sequencing. Hum. Reprod. 2024; 39(12): 2861-72. https://doi.org/10.1093/humrep/deae237
25. Kumar A., Im K., Banjevic M., Ng P.C., Tunstall T., Garcia G. et al. Whole-genome risk prediction of common diseases in human preimplantation embryos. Nat. Med. 2022; 28(3): 513-6. https://dx.doi.org/10.1038/s41591-022-01735-0
26. Kutteh W.H., Papas R.S., Maisenbacher M.K., Dahdouh E.M. Role of genetic analysis of products of conception and PGT in managing early pregnancy loss. Reprod. Biomed. Online. 2024; 49(1): 103738. https://dx.doi.org/10.1016/j.rbmo.2023.103738
27. Melado L., Lawrenz B., Nogueira D., Raberi A., Patel R., Bayram A. et al. Features of chromosomal abnormalities in relation to consanguinity: analysis of 10,556 blastocysts from IVF/ICSI cycles with PGT-A from consanguineous and non-consanguineous couples. Sci. Rep. 2023; 13(1): 8857. https://dx.doi.org/10.1038/s41598-023-36014-6
28. Hattori H., Okuyama N., Ashikawa K., Sakuraba Y., Igarashi H., Kyono K. The utility of human two plus one small pronucleated zygotes (2.1PN) based on clinical outcomes and the focused ploidy analysis. J. Assist. Reprod. Genet. 2024; 41(6): 1589-96. https://dx.doi.org/10.1007/s10815-024-03114-9
29. Савостина Г.В., Перминова С.Г., Тимофеева А.В., Веюкова М.А. Современные методы оценки имплантационного потенциала эмбрионов в программах вспомогательных репродуктивных технологий. Доктор.Ру. 2021; 20(8): 12-8.
30. Глинкина Ж.И., Сайфитдинова А.Ф., Павлова О.А., Леонтьева О.А., Панина А.Н., Бичевая Н.К., Борозняк И.В. Анализ конкордантности результатов преимплантационного генетического тестирования на анеуплоидии методом Next Generation Sequencing на платформе Illumina в клетках разных областей трофэктодермы. Доктор.Ру. 2022; 21(5): 18-24.
31. Theobald R., SenGupta S., Harper J. The status of preimplantation genetic testing in the UK and USA. Hum. Reprod. 2020; 35(4): 986-98. https://dx.doi.org/10.1093/humrep/deaa034
32. Sordia-Hernandez L.H., Morales-Martinez F.A., González-Colmenero F.D., Flores- Rodriguez A., Leyva-Camacho P.C., Sordia-Piñeyro M.O. et al. The effects of preimplantation genetic testing for aneuploidy (PGT-A) on patient-important outcomes in embryo transfer cases: a meta-analysis. J. Reprod. Infertil. 2022; 23(4): 231-46. https://dx.doi.org/10.18502/jri.v23i4.10808
33. Gleicher N., Barad D.H., Patrizio P., Orvieto R. We have reached a dead end for preimplantation genetic testing for aneuploidy. Hum. Reprod. 2022; 37(12): 2730-4. https://dx.doi.org/10.1093/humrep/deac052
34. Samara N., Peleg S., Frumkin T., Gold V., Amir H., Haikin Herzberger E. et al. New insights regarding origin of monosomy occurrence in early developing embryos as demonstrated in preimplantation genetic testing. Mol. Cytogenet. 2022; 15(1): 11. https://dx.doi.org/10.1186/s13039-022-00582-5
35. Groff A.F., Resetkova N., DiDomenico F., Sakkas D., Penzias A., Rinn J.L. et al. RNA-seq as a tool for evaluating human embryo competence. Genome Res. 2019; 29(10): 1705-18. https://dx.doi.org/10.1101/gr.252981.119
36. Riestenberg C.K., Mok T., Ong J.R., Platt L.D., Han C.S., Quinn M.M. Sonographic abnormalities in pregnancies conceived following IVF with and without preimplantation genetic testing for aneuploidy (PGT-A). J. Assist. Reprod. Genet. 2021; 38(4): 865-71. https://dx.doi.org/10.1007/s10815-021-02069-5
37. Zegers-Hochschild F., Adamson G.D., Dyer S., Racowsky C., de Mouzon J., Sokol R. et al. The International Glossary on Infertility and Fertility Care, 2017. Hum. Reprod. 2017; 32(9): 1786-801. https://dx.doi.org/10.1093/humrep/dex234
38. De Rycke M, Capalbo A, Coonen E, Coticchio G, Fiorentino F, Goossens V. et al.; ESHRE Working Group on Chromosomal Mosaicism. ESHRE survey results and good practice recommendations on managing chromosomal mosaicism. Hum. Reprod. Open. 2022; 2022(4): hoac044. https://dx.doi.org/10.1093/hropen/hoac044
39. Viotti M., Victor A.R., Barnes F.L., Zouves C.G., Besser A.G., Grifo J.A. et al. Using outcome data from one thousand mosaic embryo transfers to formulate an embryo ranking system for clinical use. Fertil. Steril. 2021; 115: 1212-24. https://dx.doi.org/10.1016/j.fertnstert.2020.11.041
40. Practice Committee and Genetic Counseling Professional Group (GCPG) of the American Society for Reproductive Medicine. Electronic address: asrm@asrm.org. Clinical management of mosaic results from preimplantation genetic testing for aneuploidy (PGT-A) of blastocysts: a committee opinion. Fertil. Steril. 2020; 114(2): 246-54. https://dx.doi.org/10.1016/j.fertnstert.2020.05.014
41. Иванова А.Д., Семёнова М.Л. Хромосомные аберрации в эмбриональном развитии человека как биологическое явление. Acta Naturae (русскоязычная версия). 2023; 15(3): 27-36.
42. Макарова Н.П., Екимов А.Н., Кулакова Е.В., Драпкина Ю.С., Сысоева А.П., Краснова Н.А., Калинина Е.А. Особенности мозаицизма у эмбрионов человека в программах лечения бесплодия методами вспомогательных репродуктивных технологий. Акушерство и гинекология. 2021; 7: 144-51.
43. Soler N., Bautista-Llàcer R., Escrich L., Oller A., Grau N., Tena R. et al. Rescuing monopronucleated-derived human blastocysts: a model to study chromosomal topography and fingerprinting. Fertil. Steril. 2021; 116(2): 583-96. https://dx.doi.org/10.1016/j.fertnstert.2021.03.038
44. Chavli E., van den Born M., Eleveld C., Boter M., van Marion R., Hoefsloot L. et al. Chromosomal mosaicism in human blastocysts: a cytogenetic comparison of trophectoderm and inner cell mass after next-generation sequencing. Reprod. Biomed. Online. 2022; 45(5): 867-77. https://dx.doi.org/10.1016/j.rbmo.2022.06.004
45. Федотова К.В., Панкрушина А.Н. Анализ факторов, влияющих на решение о переносе мозаичных эмбрионов на этапе преимплантационного генетического тестирования. Вестник Тверского государственного университета. Серия: Биология и экология. 2022; 2(66): 39-49.
46. Bouba I., Hatzi E., Ladias P., Sakaloglou P., Kostoulas C., Georgiou I. Biological and clinical significance of mosaicism in human preimplantation embryos. J. Dev. Biol. 2021; 9(2): 18. https://dx.doi.org/10.3390/jdb9020018
47. Leigh D., Cram D.S., Rechitsky S., Handyside A., Wells D., Munne S. et al. PGDIS position statement on the transfer of mosaic embryos 2021. Reprod. Biomed. Online. 2022; 45(1): 19-25. https://dx.doi.org/10.1016/j.rbmo.2022.03.013
48. Janssen A.E.J., Koeck R.M., Essers R., Cao P., van Dijk W., Drüsedau M. et al. Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing. Nat. Commun. 2024; 15(1): 7164. https://doi.org/10.1038/s41467-024-51508-1
49. Приказ Министерства здравоохранения Российской Федерации от 31.07.2020 № 803н «О порядке использования вспомогательных репродуктивных технологий, противопоказаниях и ограничениях к их применению». Доступно по: https://publication.pravo.gov.ru/Document/View/0001202010190041?index=1
50. Аншина М.Б., Долгушина Н.В., Колода Ю.А., Корсак В.С., Савина В.М., Смирнова А.А. Терминология ВРТ: Международный глоссарий. Проблемы репродукции. 2019; 25(1): 6-15.

Поступила 11.02.2025

Принята в печать 16.05.2025