【摘要】：自然流產(chǎn)是妊娠并發(fā)癥,指妊娠在28周之前自然終止,其發(fā)病率在15%~40%。近年來在輔助生育技術(shù)的使用中,同樣面臨著較高的自然流產(chǎn)率的問題。自然流產(chǎn)的病因十分復(fù)雜,除了遺傳因素以外,還包括解剖因素、內(nèi)分泌因素、感染因素、環(huán)境因素、免疫因素、血栓前狀態(tài)以及母體的全身性疾病等等。自然流產(chǎn)的細(xì)胞遺傳學(xué)研究,主要在兩個(gè)方面,一是胚胎染色體的異常,包括染色體數(shù)量異常和結(jié)構(gòu)異常;二是夫婦染色體的異常。在自然流產(chǎn)中胚胎染色體異常的檢出率在60%左右,且隨著流產(chǎn)次數(shù)的增加,染色體異常的比例下降。其中大部分為胚胎染色體數(shù)目異常如三體、三倍體及X單體等,較少為染色體結(jié)構(gòu)異常,包括染色體斷裂、倒置、缺失和易位等。在自然流產(chǎn)的夫婦中,尤其是反復(fù)自然流產(chǎn)的夫婦,其染色體異常的檢出率在8%左右,且隨著流產(chǎn)次數(shù)的增加異常的比例升高。成人染色體的異常多為染色體的平衡易位。隨著細(xì)胞遺傳學(xué)的檢測技術(shù)的發(fā)展,從傳統(tǒng)染色體核型分析和熒光原位雜交技術(shù)到染色體微陣列芯片分析、第二代測序技術(shù)即高通量測序技術(shù)的相繼應(yīng)用,使得自然流產(chǎn)的遺傳學(xué)方面的研究更加深入。自然流產(chǎn)的細(xì)胞遺傳學(xué)的研究進(jìn)展,對于自然流產(chǎn)的病因研究以及生育指導(dǎo)有著非常重要的意義。
[Abstract]:Spontaneous abortion is a complication of pregnancy, when pregnancy terminates naturally before 28 weeks. In recent years, the use of assisted fertility technology also faces the problem of high natural abortion rate. The causes of spontaneous abortion are very complicated, including anatomical factors, endocrine factors, infection factors, environmental factors, immune factors, prethrombotic state and maternal systemic diseases in addition to genetic factors. The cytogenetic studies of spontaneous abortion mainly focus on two aspects: one is the abnormality of embryo chromosomes, including the number and structure of chromosomes, and the other is the abnormality of couples' chromosomes. The detection rate of chromosomal abnormalities in embryos was about 60% in spontaneous abortion, and the proportion of chromosomal abnormalities decreased with the increase of abortion frequency. Most of the chromosomes were abnormal in the number of chromosomes such as trisomy, triploid and X monomer, and few were abnormal in chromosome structure, including chromosome breakage, inversion, deletion and translocation. Among the couples with spontaneous abortion, especially those with recurrent spontaneous abortion, the detection rate of chromosomal abnormalities was about 8%, and the proportion of abnormal chromosomes increased with the increase of abortion frequency. The abnormality of adult chromosomes is the balanced translocation of chromosomes. With the development of cytogenetics, from the traditional chromosome karyotype analysis and fluorescence in situ hybridization to chromosome microarray analysis, the second generation sequencing technology, namely high-throughput sequencing technology, has been applied. The genetic aspects of spontaneous abortion have been further studied. The progress in cytogenetics of spontaneous abortion is of great significance to the etiology and fertility guidance of spontaneous abortion.
【作者單位】： 首都醫(yī)科大學(xué)附屬北京婦產(chǎn)醫(yī)院計(jì)劃生育科;
【分類號(hào)】：R714.21

【參考文獻(xiàn)】

相關(guān)期刊論文 前7條

1 宋蘭林;熊麗;劉思平;劉潔;鐘梅;高云飛;吳瑞楓;余艷紅;;FISH技術(shù)在快速診斷自然流產(chǎn)胚胎染色體數(shù)目異常中的應(yīng)用[J];南方醫(yī)科大學(xué)學(xué)報(bào);2011年09期

2 王春s，

本文編號(hào)：2289093