自然流产的细胞遗传学研究进展

发布时间：2018-10-23 11:30

【摘要】：自然流产是妊娠并发症,指妊娠在28周之前自然终止,其发病率在15%~40%。近年来在辅助生育技术的使用中,同样面临着较高的自然流产率的问题。自然流产的病因十分复杂,除了遗传因素以外,还包括解剖因素、内分泌因素、感染因素、环境因素、免疫因素、血栓前状态以及母体的全身性疾病等等。自然流产的细胞遗传学研究,主要在两个方面,一是胚胎染色体的异常,包括染色体数量异常和结构异常;二是夫妇染色体的异常。在自然流产中胚胎染色体异常的检出率在60%左右,且随着流产次数的增加,染色体异常的比例下降。其中大部分为胚胎染色体数目异常如三体、三倍体及X单体等,较少为染色体结构异常,包括染色体断裂、倒置、缺失和易位等。在自然流产的夫妇中,尤其是反复自然流产的夫妇,其染色体异常的检出率在8%左右,且随着流产次数的增加异常的比例升高。成人染色体的异常多为染色体的平衡易位。随着细胞遗传学的检测技术的发展,从传统染色体核型分析和荧光原位杂交技术到染色体微阵列芯片分析、第二代测序技术即高通量测序技术的相继应用,使得自然流产的遗传学方面的研究更加深入。自然流产的细胞遗传学的研究进展,对于自然流产的病因研究以及生育指导有着非常重要的意义。
[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.
【作者单位】：首都医科大学附属北京妇产医院计划生育科;
【分类号】：R714.21

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