56例死胎及先天畸形引产胎儿尸检病理及染色体异常分析

摘要

目的 回顾性探讨死胎及先天性畸形引产胎儿的病理特点和常见染色体异常.方法 通过对56例死胎及先天性畸形引产胎儿的尸检资料进行回顾性分析,并对其石蜡包埋组织进行FISH法检测胎儿常见染色体的异常情况.结果 先天性畸形占尸检胎儿的67.86%,心血管系统畸形发生率最高(24.3%),其后依次为四肢骨骼系统(20.3%)、泌尿系统(14.9%)、消化系统(13.5%);胎儿尸检石蜡组织切片85.7%(48/56)能获得合格的FISH检测信号,13、18、21、X、Y染色体异常率占14.6%(7/48).结论 对死亡胎儿进行尸检和FISH检测有利于更准确地诊断先天性畸形.%Purpose To investigate the pathological features and common chromosomal abnormalities of congenital malformation in fetuses. Methods An retrospective analysis of 56 autopsy cases of fetuses was performed and chromosomal abnormalities were assayed by FISH in paraffin-emhedded tissue. Results The results showed congenital malformations accounted for 67. 86％ of fetal autopsy.Incidence of malformations were highest in cardiovascular malformations ( 24. 3％ ) , followed by limb skeletal system ( 20. 3％ ), urinary system ( 14. 9％ ), digestive system ( 13. 5％ ). In FISH assays, 85. 7％( 48/56 ) of the cases was performed successfully, chromosome 13 , 18, 21 , X and Y abnormalities accounted for 14. 6％ ( 7/48 ) of cases. Conclusion Fetal autopsy and FISH assays are beneficial to the diagnosis of congenital malformations.