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。

Spontaneous abortion is a complication of pregnancy that terminates before 28 weeks of gestations. The incidence is about 15 % ~ 40 %. In recent years the assisted reproductive technology(ART) is also facing the problem of high incidence of spontaneous abortion. Etiology of spontaneous abortion is very complex. Besides genetic factors,there are anatomical factors,endocrinological factors,infection factors,environmental factors,immunological factors,prethrombotic state and maternal systemic diseases and so on. Cytogenetic studies of spontaneous abortion are mainly in two aspects,one is embryonic chromosomal abnormalities,including the number of chromosome abnormalities and abnormal structure；the second is couple of chromosome abnormalities. In spontaneous abortion the embryonic chromosomal abnormal detection rate is around 60 % and this ratio declines with the increase in the number of abortions. Most of the number of embryos abnormalities are trisomy,triploids and X monomer. Less structural chromosomal abnormalities of embryo include chromosomal breakage,inversions,deletions and translocations and so on. In couples with spontaneous abortion,especially recurrent spontaneous abortion couples,the abnormal chromosome detection rate is around 8 %. With the number of abortion increases,this proportion increases too. The most common abnormality of chromosome of adult is balanced translocation. Nowadays there are great developments in cytogenetic detection technology. From the traditional chromosome karyotype analysis and fluorescence in situ hybridization techniques (FISH) to chromosomal microarray chip analysis and the second generation sequencing technology,we can make further research of cytogenetic of spontaneous abortion. These researches have a very important significance in the area of etiology of spontaneous abortion and do great help to guide the couples confused by recurrent spontaneous abortion in their next childbirth.

1971年出生，女，江西南昌市人，副主任医师，研究方向为避孕节育手术并发症及疑难杂症，复发性流产的妊娠管理，流 产后生殖健康服务以及危急情况下的生殖健康服务