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遗传因素在复发性流产中的作用——综述。

Role of genetic factors in recurrent miscarriages - A review.

机构信息

Department of Obstetrics & Gynaecology, Charlotte Maxeke Johannesburg Academic Hospital, University of the Witwatersrand, Johannesburg, South Africa.

Department of Obstetrics & Gynaecology, Queen Nandi Regional Hospital, Empangeni, University of KwaZulu-Natal, KZN, South Africa.

出版信息

Afr J Reprod Health. 2022 Oct;26(10):72-82. doi: 10.29063/ajrh2022/v26i10.9.

Abstract

Recurrent miscarriage is classically defined as three or more consecutive pregnancy losses in about 1-5% of couples trying to conceive. However, several researchers have amended this to two or more because of the recent increase in childless miscarriages. Recurrent miscarriage is a clinical challenge for clinicians because there are many possible causes, and diagnostic testing is expensive and time-consuming. Established causes of recurrent miscarriage are antiphospholipid antibodies, uterine anomalies, and abnormal chromosomes in either partner, particularly translocations. Uterine anatomical abnormalities, endocrine abnormalities, infections, immunologic factors, environmental factors, metabolic or hormonal disorders, sperm quality, and maternal and paternal age have each been linked. Among them, the genetic factor plays a significant role in recurrent miscarriage. Approximately 70% of miscarriage conceptions with sporadic spontaneous miscarriage reveal some chromosome abnormality. Specifically, recurrent miscarriage can be caused by a structural or numerical defect in the parents' or fetus' chromosomes. Recurrent miscarriage has been linked to several genes, including those involved in oxidative stress, angiogenesis, clotting, and inflammation. Despite several well-known etiologic factors, the etiology of recurrent miscarriage is unknown in over half of all instances. The current review aims to analyse the role of the genetic basis of recurrent miscarriages.

摘要

复发性流产通常被定义为大约 1-5%的备孕夫妇连续发生三次或更多次妊娠丢失。然而,由于近年来不孕性流产的增加,一些研究人员将其修正为两次或更多次。复发性流产对临床医生来说是一个临床挑战,因为有许多可能的原因,而且诊断测试既昂贵又耗时。复发性流产的既定原因包括抗磷脂抗体、子宫异常和双方异常染色体,特别是易位。子宫解剖结构异常、内分泌异常、感染、免疫因素、环境因素、代谢或激素紊乱、精子质量以及母亲和父亲的年龄都与复发性流产有关。其中,遗传因素在复发性流产中起着重要作用。大约 70%的散发性自然流产妊娠会出现一些染色体异常。具体来说,复发性流产可能是由父母或胎儿染色体的结构或数量缺陷引起的。复发性流产与几个基因有关,包括参与氧化应激、血管生成、凝血和炎症的基因。尽管有几个众所周知的病因因素,但超过一半的复发性流产病例的病因仍不清楚。本综述旨在分析复发性流产的遗传基础的作用。

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