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流产中的染色体异常与母亲年龄:来自7118例病例研究的新见解

Chromosomal Abnormalities in Miscarriages and Maternal Age: New Insights from the Study of 7118 Cases.

作者信息

Pendina Anna A, Krapivin Mikhail I, Chiryaeva Olga G, Petrova Lubov' I, Pashkova Elizaveta P, Golubeva Arina V, Tikhonov Andrei V, Koltsova Alla S, Trusova Ekaterina D, Staroverov Dmitrii A, Glotov Andrey S, Bespalova Olesya N, Efimova Olga A

机构信息

D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line 3, 199034 Saint Petersburg, Russia.

出版信息

Cells. 2024 Dec 26;14(1):8. doi: 10.3390/cells14010008.

Abstract

Chromosomal abnormalities of the embryo are the most common cause of first-trimester pregnancy loss. In this single-center study, we assessed the frequency and the spectrum of chromosomal abnormalities in miscarriages for each year of maternal age from 23 to 44. Cytogenetic data were obtained by conventional karyotyping of 7118 miscarriages in women with naturally conceived pregnancies. Chromosomal abnormalities were identified in 67.25% of miscarriages. The total incidence of chromosomal abnormalities increased with maternal aging; however, its average change for a one-year increase in maternal age differed between age spans, equaling 0.704% in the span from 23 to 37 years and 2.095% in the span from 38 to 44 years. At the age of 38 years, the incidence rate surged sharply by 14.79% up to 79.01% and then increased progressively up to 94% in 44-year-old women. The spectrum of chromosomal abnormalities in miscarriages was the same for each year of maternal age from 23 to 44 years. However, the proportions of particular chromosomal abnormalities differed between karyotypically abnormal miscarriages in younger and older women. The proportions of trisomy 16, polyploidy, monosomy X, mosaic aneuploidies, and structural rearrangements decreased with increasing maternal age. In contrast, the proportions of multiple aneuploidies and regular trisomies 13, 15, 18, 21, and 22 showed an upward trend with maternal aging. To summarize, despite the increase in the total incidence of chromosomal abnormalities in miscarriages with maternal aging, the rate of change differs for younger and older women, being three times lower in the former than in the latter. Moreover, the proportion of some abnormalities in karyotypically abnormal miscarriages shows a steady growth, whereas the proportion of others becomes increasingly low with maternal aging, most probably due to the age-dependent prevalence of different molecular and cellular defects.

摘要

胚胎染色体异常是孕早期流产最常见的原因。在这项单中心研究中,我们评估了23至44岁各年龄段孕妇流产时染色体异常的频率和类型。通过对7118例自然受孕孕妇的流产组织进行常规核型分析获得细胞遗传学数据。67.25%的流产组织被鉴定出染色体异常。染色体异常的总发生率随母亲年龄增长而增加;然而,母亲年龄每增加一岁,其平均变化率在不同年龄段有所不同,23至37岁年龄段为0.704%,38至44岁年龄段为2.095%。38岁时,发病率急剧上升14.79%,达到79.01%,然后在44岁女性中逐渐上升至94%。23至44岁各年龄段孕妇流产时染色体异常的类型相同。然而,年轻和年长女性核型异常流产中特定染色体异常的比例有所不同。16三体、多倍体、X单体、嵌合非整倍体和结构重排的比例随母亲年龄增加而降低。相反,多种非整倍体以及13、15、18、21和22号常规三体的比例随母亲年龄增长呈上升趋势。总之,尽管流产时染色体异常的总发生率随母亲年龄增长而增加,但年轻和年长女性的变化率不同,前者比后者低三倍。此外,核型异常流产中一些异常的比例呈稳定增长,而另一些异常的比例则随母亲年龄增长而越来越低,这很可能是由于不同分子和细胞缺陷的年龄依赖性患病率所致。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b601/11720377/935c91757ef4/cells-14-00008-g001.jpg

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