国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2014, Vol. 33 ›› Issue (3): 168-171.

• 论著 • 上一篇    下一篇

1 770对自然流产夫妇的细胞遗传学回顾性分析


胡亮，李浩贤，彭莹，龙志高，文娟，邬玲仟   

  1. 410078 长沙，中南大学医学遗传学国家重点实验室
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2014-05-15 发布日期:2014-05-15
  • 通讯作者: 邬玲仟

Retrospective Analysis of Cytogenetics in 1 770 Couples with Spontaneous Abortion

HU Liang，LI Hao-xian，PENG Ying，LONG Zhi-gao，WEN Juan，WU Ling-qian   

  1. State Key Laboratory of Medical Genetics，Central South University，Changsha 410078，China
  • Received:1900-01-01 Revised:1900-01-01 Published:2014-05-15 Online:2014-05-15
  • Contact: WU Ling-qian

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摘要： 目的：明确自然流产夫妇中各染色体异常的发生率，并探讨染色体异常与性别、自然流产发生次数、流产发生时间以及既往生育史的关系。方法：对1 770对自然流产受检夫妇进行外周血淋巴细胞染色体核型分析。结果：共检出111例（3.14%）异常核型，119例（3.36%）多态核型；受检男性中染色体异常共41例（2.32%），女性中染色体异常共70例（3.95%）；染色体异常的夫妇既往异常生育率为6.36%，既往正常生育率为1.8%。染色体异常夫妇与染色体正常夫妇的早期流产发生率差异无统计学意义（P＞0.05）；染色体易位者多次自然流产发生率（55.1%）较染色体正常者（25.0%）偏高（P＜0.001），而倒位者多次自然流产发生率（30.2%）与染色体正常者差异无统计学意义（P＞0.05）。染色体异染色质及随体多态者多次流产发生率（37.3%）与正常者及易位者差异均有统计学意义（P=0.007及P=0.036）。结论：在自然流产夫妇中女性染色体异常率较男性高；夫妇双方染色体异常与自然流产次数、既往生育史关系密切，是其重要的致病因素。

关键词: 流产, 自然, 细胞遗传学, 染色体畸变, 多态现象, 遗传, 核型分析

Abstract: Objective：To estimate the frequency of chromosomal abnormalities, and to explore the relationship between chromosomal abnormalities and sex，abortion times，gestational age and abnormal childbearing history. Methods：The chromosome karyotyping and clinical characteristics were retrospectively analyzed in 1 770 couples with spontaneous abortion. Results：Chromosomal abnormalities and polymorphisms were detected in 111 cases （３．１４％） and 119 cases （３．３６％）, respectively. 41 cases （２．３２％） of chromosomal abnormalities were found in male while 70 cases （３．９５％） in female. The abnormal childbearing rate in those chromosome-abnormal couples was 6.36%, while the normal childbearing rate in those couples was 1.8%, respectively. There was no significant difference in early miscarriage rates between those abnormality couples and controls（P＞0.05）. The rate of spontaneous abortion in those couples with chromosomal translocation （５５．１％） was higher than that in normal couples （２５．０％，P＜0.001）, while this rate in those couples with chromosomal inversion did not significantly change（P＞0.05）. There was significant difference in the rate of multiple spontaneous abortion in those heterochromatin/satellite heteromorphism carriers （３７．３％） when compared with normal couples as well as chromosome-translocation couples（P=0.007，P=0.036）. Conclusions：In those couples with spontaneous abortion, the rate of chromosomal abnormalities was more frequent in female than that in male. Chromosomal abnormalities were closely related to abortion times, abnormal childbearing history, suggesting that chromosomal abnormalities are risk factors of spontaneous abortion.

Key words: Abortion, spontaneous, Cytogenetics, Chromosome aberrations, Polymorphism, genetic, Karyotyping