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目的探讨贵州地区孕妇胚胎停止发育或发育异常终止妊娠病因中染色体异常的发生情况,为临床遗传咨询及指导流产夫妇的再次妊娠提供理论依据。方法建立标准化的妊娠流产绒毛或胎儿组织的荧光原位杂交(FISH)技术检测染色体方法,应用FISH技术快速检测182例流产绒毛或胎儿组织的13、16、18、21、22号染色体及性染色体的染色体数目。结果检测出72例染色体数目异常,占总病例数的39.56%。主要以单一染色体异常为主,常见的是X-单体、16-三体和22-三体的染色体异常类型,占异常构成比分别为19.44%、20.83%和15.27%;而有14例为三倍体和四倍体,其中XXY;三倍体类型的染色体异常类型最常见,占异常构成比的9.72%。结论 FISH技术可以快速、简便地检测出染色体数目异常,且可以初步了解胚胎停止发育或发育异常终止妊娠的病因,对临床遗传咨询及指导流产夫妇的再次妊娠具有重要的指导意义。
Objective To explore the occurrence of chromosomal abnormalities in the etiopathogenisis of termination or development of pregnant women in Guizhou region and to provide theoretical basis for clinical genetic counseling and guidance of the second pregnancy of abortion couples. Methods To establish a standardized method for the detection of chromosomes by fluorescence in situ hybridization (FISH) in pregnancy induced abortion villi or fetal tissue. Rapid detection of chromosomes 13, 16, 18, 21, 22 and sex chromosomes in 182 cases of abortion or fetuses by FISH The number of chromosomes. Results The number of chromosome abnormalities was detected in 72 cases, accounting for 39.56% of the total cases. Mainly single chromosome abnormalities, common is the X-monomer, 16-trisomy and 22-trisomy chromosomal abnormalities accounted for 19.44%, 20.83% and 15.27%, respectively; and 14 cases were Triploid and tetraploid, of which XXY; triploid types of the most common type of chromosomal abnormalities accounted for 9.72% of the abnormal constituent ratio. Conclusion FISH can detect the number of chromosomal abnormalities quickly and easily, and can be used to understand the etiopathogenisis of embryo development or abnormal termination of pregnancy. It is of great guiding significance for clinical genetic counseling and guiding the re-pregnancy of aborted couples.