1702例早孕绒毛细胞培养及细胞遗传学分析

目的 探讨早孕期绒毛活检及细胞遗传学分析在产前诊断中的应用.方法 回顾性分析2002年4月至2019年9月在北京协和医院产前诊断中心进行早孕期绒毛活检及细胞遗传学检测的1 702例患者的临床资料,统计培养成功率及染色体异常率,并对其诊断指征进行分析.结果 1 702例绒毛组织标本中,培养成功1 602例,成功率为94....

Chorionic villus sampling and cytogenetic analysis of 1 702 cases

Objective:To discuss the application of chorionic villus sampling(CVS)and cytogenetic analysis in prenatal diagnosis in early pregnancy.Methods:1702 cases with CVS and cytogenetic analysis in Peking Union Medical College Hospital from April 2002 to September 2019 were analyzed retrospectively.The success rate of culture and the incidence of chromosomal abnormality were determined.Results:Among the 1702 cases,villi in 1602 cases were successfully cultured,with a success rate of 94.12%.The indications were mostly advanced maternal age(43.60%)and Mendelian disorders(29.14%).Among them,there were 161 cases of abnormal karyotype,with an abnormal rate of 10.05%(161/1602).There were 53 cases of trisomy 21,39 cases of trisomy 18,10 cases of trisomy 13,31 cases of sex chromosome abnormalities,9 cases of other autosomal number abnormalities,17 cases of chromosomal structure abnormalities,and 2 cases of polyploidy.The group of parental chromosomal abnormalities had the highest incidence of chromosomal abnormalities(9/23,39.13%),followed by the group of ultrasound abnormalities(110/313,35.14%),and in the group of Mendelian disorders history,the incidence was 6/464.There were 5 cases of fetal loss after CVS(5/1702,0.29%).Conclusions:CVS and karyotyping can move up the time of prenatal diagnosis effectively,thus were particularly suitable for the family with Mendelian disorders history and abnormal ultrasound findings in the early scan.Villi tissue culture in early pregnancy can achieve a high success rate of culture,and the reasons for failure are mostly due to small sample size and poor cell activity.In case there was chromosomal mosaicism in the villi karyotype,it should be aware of the possibility of discordance in the fetus and the placenta.