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[自然流产或死胎中染色体异常的患病率]

[Prevalence of chromosomal abnormalities in spontaneous abortions or fetal deaths].

作者信息

Bastos Raquel, Ramalho Carla, Dória Sofia

机构信息

Faculdade de Medicina. Universidade do Porto. Porto. Portugal..

Departamento de Ginecologia e Obstetrícia. Faculdade de Medicina. Universidade do Porto / Centro Hospitalar S. João. Porto. Portugal.

出版信息

Acta Med Port. 2014 Jan-Feb;27(1):42-8. Epub 2014 Feb 28.

Abstract

INTRODUCTION

Spontaneous abortion is one of the most frequent problems of pregnancy, estimated to affect, at least, one in every four women who tries to conceive. The main purpose of this work was to study the prevalence of chromosomal abnormalities in gestational losses, evaluating their relation with maternal age, gestational age and previous abortion history.

MATERIAL AND METHODS

Retrospective study of 401 pregnancy loss cases that have gone through cytogenetic and anatomopathologic analysis between January 2008 and June 2012, in Centro Hospitalar de S. João, Oporto.

RESULTS

Of the 401 cases sent to cytogenetic study, it was possible to obtain information about the chromosomal complement in 333 cases, of which 72.7% showed normal karyotype, and 27.3% abnormal karyotype. Aneuploidies represented 92.3% of the identified chromosomopathies, with trisomies being the most frequent, related with an advanced maternal age and an early gestational age. There was no agreement between the results of the cytogenetic and the anatomopathologic analysis.

DISCUSSION/CONCLUSION: The prevalence of chromosomal abnormalities, during the first trimester, is similar between sporadic and recurrent miscarriages. With increased maternal age, trisomies, the most frequent type of aneuploidy, are more likely to occur, with a mean increment in probability of 7.4% per year. A significant karyotype-pathological correlation was not established. Maternal contamination is the main obstacle to the accurate determination of the prevalence of chromosomal abnormalities. The molecular cytogenetic techniques already available can overcome the limitations of the conventional technique.

摘要

引言

自然流产是妊娠最常见的问题之一,据估计,每四位试图受孕的女性中至少有一位会受到影响。这项研究的主要目的是研究妊娠丢失中染色体异常的患病率,评估其与母亲年龄、孕周和既往流产史的关系。

材料与方法

对2008年1月至2012年6月间在波尔图圣若昂中心医院接受细胞遗传学和解剖病理学分析的401例妊娠丢失病例进行回顾性研究。

结果

在送去进行细胞遗传学研究的401例病例中,333例获得了染色体组信息,其中72.7%显示核型正常,27.3%核型异常。非整倍体占已鉴定染色体病的92.3%,三体最为常见,与母亲年龄较大和孕周较早有关。细胞遗传学分析结果与解剖病理学分析结果不一致。

讨论/结论:孕早期,散发性流产和复发性流产中染色体异常的患病率相似。随着母亲年龄的增加,最常见的非整倍体类型——三体更易发生,平均每年发生率增加7.4%。未建立显著的核型-病理相关性。母体污染是准确确定染色体异常患病率的主要障碍。现有的分子细胞遗传学技术可以克服传统技术的局限性。

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