vavilovВавиловский журнал генетики и селекцииVavilov Journal of Genetics and Breeding2500-3259Institute of Cytology and Genetics of Siberian Branch of the RAS10.18699/VJGB-23-05vavilov-3629Research ArticleБИОТЕХНОЛОГИЯ В ПОСТГЕНОМНУЮ ЭРУMEDICAL GENETICSСравнительная цитогенетика анэмбрионии и неразвивающейся беременности у человекаComparative cytogenetics of anembryonic pregnancies and missed abortions in humanhttps://orcid.org/0000-0002-4230-6855НикитинаТ. В.NikitinaT. V.

Томск

Tomsk

t.nikitina@medgenetics.ruhttps://orcid.org/0000-0003-3875-3932СаженоваЕ. А.SazhenovaE. A.

Томск

Tomsk

https://orcid.org/0000-0002-0716-4302ТолмачеваЕ. Н.TolmachevaE. N.

Томск

Tomsk

СухановаН. Н.SukhanovaN. N.

Томск

Tomsk

https://orcid.org/0000-0002-5301-070XВасильевС. А.VasilyevS. A.

Томск

Tomsk

https://orcid.org/0000-0002-0482-8046ЛебедевИ. Н.LebedevI. N.

Томск

Tomsk

Научно-исследовательский институт медицинской генетики, Томский национальный исследовательский медицинский центр Российской академии наукРоссияResearch Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of SciencesRussian Federation2023060320232712835Copyright © Никитина Т.В., Саженова Е.А., Толмачева Е.Н., Суханова Н.Н., Васильев С.А., Лебедев И.Н., 20232023Никитина Т.В., Саженова Е.А., Толмачева Е.Н., Суханова Н.Н., Васильев С.А., Лебедев И.Н.Nikitina T.V., Sazhenova E.A., Tolmacheva E.N., Sukhanova N.N., Vasilyev S.A., Lebedev I.N.This work is licensed under a Creative Commons Attribution 4.0 License.https://vavilov.elpub.ru/jour/article/view/3629

Невынашивание беременности является серьезной проблемой в репродукции человека, затрагивающей 10–15 % клинически распознаваемых беременностей. Среди случаев эмбриональной гибели можно выделить замершие (неразвивающиеся) беременности (НБ), при которых ультразвуковым признаком гибели эмбриона служит отсутствие сердцебиения, и анэмбрионии (АЭ) – отсутствие эмбриона в полости плодного мешка. Целью данного исследования было сравнение частоты хромосомных аномалий во внезародышевых тканях, выявляемых при стандартном цитогенетическом анализе материала спонтанных абортов, в зависимости от наличия или отсутствия эмбриона. Проведено ретроспективное исследование 1551 спонтанного абортуса, проанализированного с помощью стандартного цитогенетического исследования с 1990 по 2022 г. (266 случаев АЭ и 1285 случаев НБ) в НИИ медицинской генетики Томского НИМЦ. Выполнен сравнительный анализ частоты хромосомных аномалий и распределения частот кариотипов в зависимости от наличия эмбриона в полости плодного мешка. Статистический анализ проводили с использованием критерия хи-квадрат с уровнем значимости p < 0.05. Суммарно частота хромосомных аномалий в исследованной выборке составила 53.6 % (832/1551). Доля аномальных кариотипов в группах АЭ и НБ значимо не различалась и составила 57.1 % (152/266) и 52.9 % (680/1285) для АЭ и НБ соответственно (p = 0.209). При НБ статистически значимо чаще встречались аномалии числа половых хромосом (6.8 % (88/1285) против 2.3 % (6/266), p = 0.005) и триплоидии (8.9 % (114/1285) против 4.9 % (13/266), p = 0.031). В то же время при отсутствии эмбриона статистически значимо чаще регистрировалась тетраплоидия (12.4 % (33/266) против 8.2 % (106/1285), p = 0.031). Соотношение полов (46,XY : 46,XX) среди абортусов с нормальным кариотипом составило 0.54 и 0.74 для АЭ и НБ соответственно. Таким образом, хотя частоты некоторых типов хромосомных аномалий различаются между АЭ и НБ, суммарная частота хромосомных аномалий при АЭ не повышена по сравнению с НБ, что свидетельствует о необходимости поиска причин АЭ на других уровнях организации генома, включая микроструктурные перестройки хромосом, моногенные мутации, нарушения импринтинга и аберрантные эпигенетические модификации.

Miscarriage is an important problem in human reproduction, affecting 10–15 % of clinically recognized pregnancies. The cases of embryonic death can be divided into missed abortion (MA), for which the ultrasound sign of the embryo death is the absence of cardiac activity, and anembryonic pregnancy (AP) without an embryo in the gestational sac. The aim of this study was to compare the frequency of chromosomal abnormalities in extraembryonic tissues detected by conventional cytogenetic analysis of spontaneous abortions depending on the presence or absence of an embryo. This is a retrospective study of 1551 spontaneous abortions analyzed using GTG-banding from 1990 to 2022 (266 cases of AP and 1285 cases of MA). A comparative analysis of the frequency of chromosomal abnormalities and the distribution of karyotype frequencies depending on the presence of an embryo in the gestational sac was carried out. Statistical analysis was performed using a chi-square test with a p < 0.05 significance level. The total frequency of chromosomal abnormalities in the study was 53.6 % (832/1551). The proportion of abnormal karyotypes in the AP and MA groups did not differ significantly and amounted to 57.1 % (152/266) and 52.9 % (680/1285) for AP and MA, respectively (p = 0.209). Sex chromosome aneuploidies and triploidies were significantly less common in the AP group than in the MA group (2.3 % (6/266) vs 6.8 % (88/1285), p = 0.005 and 4.9 % (13/266) vs 8.9 % (114/1285), p = 0.031, respectively). Tetraploidies were registered more frequently in AP compared to MA (12.4 % (33/266) vs. 8.2 % (106/1285), p = 0.031). The sex ratio among abortions with a normal karyotype was 0.54 and 0.74 for AP and MA, respectively. Thus, although the frequencies of some types of chromosomal pathology differ between AP and MA, the total frequency of chromosomal abnormalities in AP is not increased compared to MA, which indicates the need to search for the causes of AP at other levels of the genome organization, including microstructural chromosomal rearrangements, monogenic mutations, imprinting disorders, and epigenetic abnormalities.

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The authors declare that there are no conflicts of interest present.