Yuan S M, Liao C, Li D Z, Huang J Z, Hu S Y, Ke M, Zhong H Z, Yi C X
Prenatal Diagnosis Center, Guangzhou Women and Children's Medical Center, Guangzhou 510623, China.
Zhonghua Fu Chan Ke Za Zhi. 2017 Jul 25;52(7):461-466. doi: 10.3760/cma.j.issn.0529-567X.2017.07.006.
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. 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. 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, 0.01). 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.
探讨自然流产与胚胎染色体异常的关系,评估绒毛膜绒毛细胞培养核型分析的临床应用价值。回顾性分析2010年1月至2016年7月在广州市妇女儿童医疗中心就诊的1983例流产患者的绒毛膜绒毛核型。在无菌条件下通过刮宫获取流产的绒毛膜绒毛。绒毛膜绒毛细胞培养后制备染色体标本。采用G显带技术进行核型分析。1983例样本中,1770例成功进行了核型分析,成功率为89.98%。1038例(58.64%,1038/1770)发现染色体异常。发现染色体结构异常37例。数目异常比结构异常更常见,大多数数目异常为非整倍体。依次为16三体、45,X、22三体、2三体、21三体、15三体。最常见的结构异常是平衡易位,包括罗伯逊易位。女性胚胎流产占61.02%(1080/1770),染色体异常占57.4%(596/1770);男性胚胎流产分别占61.02%(1080/1770),染色体异常占57.4%(596/1770)。女性胚胎比例高于男性胚胎。患者的中位年龄为30岁(16~46岁)。随着母亲年龄增加,染色体异常比例增加。高龄组(≥35岁)染色体异常发生率为68.38%(240/351),显著高于低龄组(56.24%,798/1419;χ(2)=17.10,P<0.01)。胚胎染色体异常是早期自然流产最常见的原因。异常集中在某些核型。母亲年龄与流产发生率以及胚胎性别之间存在一定关系。绒毛膜绒毛细胞培养和核型分析有助于找出流产原因并为患者提供咨询。