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[孕早期妊娠丢失中的复发性非整倍体:一例病例报告及文献复习]

[Recurrent aneuploidy in first trimester gestational loss: a case report and review of the literature].

作者信息

Hernández-Gómez Mariana, Meléndez-Hernández Ricardo, Rojas-Saiz Walter H, Maya-Goldsmit Dan, Mayén-Molina Dora Gilda

出版信息

Ginecol Obstet Mex. 2013 Dec;81(12):733-7.

PMID:24620528
Abstract

Miscarriage is the loss of pregnancy before 20 weeks of gestation and occurs in 15% of clinically recognized pregnancies. However, 5% of couples present recurrent abortion, which means more than two losses whether consecutive or not. One of the main causes of both, spontaneous and recurrent abortion, are genetic. Within it, chromosomal abnormalities are the most important. So far, the only risk factor that has been clearly defined is maternal age. Nevertheless, in patients with recurrent abortion, there has been research on some other factors that generate a greater predisposition to aneuploidy, and consequently, recurrent abortion risk. One of the mechanisms that may be the link between aneuploidy risk and maternal age is the level of Follicle Stimulating Hormone (FSH). This is due to the fact that elevated levels of Follicle Stimulating Hormone have been found to modify the morphology of meiotic spindles, which in turn leads to a higher risk of aneuploidy. In this article we present a literature review on the subject, as well as the case of a patient with two abortions, one of them with trisomy 13, and the other with trisomy 18.

摘要

流产是指妊娠20周前发生的妊娠丢失,在临床确诊的妊娠中发生率为15%。然而,5%的夫妇存在复发性流产,即无论是否连续发生两次以上流产。自然流产和复发性流产的主要原因之一是遗传因素。其中,染色体异常最为重要。到目前为止,唯一明确的危险因素是母亲年龄。然而,对于复发性流产患者,已经对一些其他导致非整倍体倾向增加从而增加复发性流产风险的因素进行了研究。可能是非整倍体风险与母亲年龄之间联系的机制之一是促卵泡生成素(FSH)水平。这是因为已发现促卵泡生成素水平升高会改变减数分裂纺锤体的形态,进而导致非整倍体风险增加。在本文中,我们对该主题进行了文献综述,并介绍了一名有两次流产经历的患者的病例,其中一次流产胎儿为13三体,另一次为18三体。

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