Objective: To investigate the relationship between spontaneous miscarriage and embryonic chromosome abnormalities, and to evaluate the clinical application of karyotype analysis by chorionic villus cell culture. Methods: The chorionic villus karyotype of 1 983 cases of miscarriage from January 2010 to July 2016 in Guangzhou Women and Children's Mecical Center were analyzed retrospectively. The miscarried chorionic villi were obtained by curettage under sterilized condition. The chromosome specimens were prepared after chorionic villus cell culture. Karyotype analysis was performed by G-banding technique. Results: In the 1 983 samples, successful karyotype analysis was performed in 1 770 cases, with the successful rate of 89.98%. Chromosomal abnormalities were found in 1 038 cases (58.64%, 1 038/1 770). Chromosomal structural abnormalities were found in 37 cases. The numeral abnormalities were more common than structural abnormalities, and most of the numeral abnormalities were aneupoidies. In turn, they were trisomy 16, 45,X, trisomy 22, trisomy 2, trisomy 21, trisomy 15. The most common structural abnormality was balanced translocation, including Robersonian translocation. Female embryoes accounted for 61.02% (1 080/1 770) miscarriages and for 57.4%(596/1 770) of chromosomal abnormalities, while male embroyes acoounted for 61.02% (1 080/1 770) , 57.4% (596/1 770) respectively. The proportion of female embryoes was higher than male embryoes. The median age of the patients was 30 years old (16-46 years old) . As the maternal age increased, the proportion chromosomal abnormalities increased. The incidence of chromosomal abnormalities in the advanced age group (≥35 years) was 68.38% (240/351) , which was significantly higher than that in the younger group (56.24%, 798/1 419; χ(2)=17.10, P<0.01). Conclusions: Embryonic chromosomal abnormalities are the most common cause of early spontaneous miscarriage. The abnormalities centralize in some karyotypes. There is certain relationship between maternal age and the incidence of miscarriage, as well as the embryonic gender. Chorionic villus cell culture and karyotype analysis are helpful in finding the cause of miscarriage and counsel the patients.
目的： 探讨自然流产与胚胎染色体核型的关系，及绒毛细胞培养法分析染色体核型在临床中的应用价值。 方法： 回顾性分析2010年1月至2016年7月于广州市妇女儿童医疗中心确诊为胚胎停止发育的1 983例妇女的临床资料，孕妇自然流产胚胎的绒毛组织均在清宫手术时无菌条件下采集，并采用绒毛细胞长期培养法及染色体G显带技术制备染色体标本，并对绒毛细胞染色体核型进行分析。 结果： 1 983例自然流产胚胎的绒毛组织标本中，除取材不合格的标本，细胞培养成功并进行核型分析的标本共1 770例（89.98%，1 770/1 967）。其中染色体核型异常的标本1 038例（58.64%，1 038/1 770），以非整倍体最为常见，依次为16三体、45，X、22三体、2三体、21三体、15三体；染色体结构异常的标本37例，以平衡易位和罗伯逊易位常见。自然流产的胚胎中，女性胚胎1 080例（61.02%，1 080/1 770），男性胚胎690例（38.98%，690/1 770）；染色体异常的胚胎中，女性胚胎596例（57.42%，596/1 038），男性胚胎442例（42.58%，442/1 038），两者比较，差异有统计学意义（χ(2)=13.67，P<0.01）。自然流产孕妇的中位年龄为30岁（16~46岁），35岁及以上孕妇染色体核型异常的发生率为68.38%（240/351），较35岁以下孕妇染色体核型异常的发生率（56.24%，798/1 419）高，两者比较，差异有统计学意义（χ(2)=17.10，P<0.01）。 结论： 胚胎染色体异常是早期自然流产的主要原因。常见的染色体核型异常有一定的集中性。孕妇的年龄及胚胎的性别，均与自然流产的发生有一定的关系。采用绒毛细胞培养法分析自然流产胚胎的染色体核型，对自然流产的病因分析及指导再次妊娠有重要的意义。.
Keywords: Abortion, spontaneous; Chorionic villi sampling; Chromosome aberrations; Karyotyping.