摘要
目的探讨和阐明绒毛染色体核型分析在产前诊断中的应用价值和意义。方法选取828例绒毛标本,其中718例来自经腹部取材法、56例来自经宫颈吸取法、54例为流产胚胎。绒毛分别采用组织块培养法和直接法制备染色体,G显带进行染色体核型分析;另每份样本留取适量绒毛根据不同检查指征分别进行基因芯片(array-CGH)或荧光原位杂交(FISH)检测。结果共检出异常核型75例,异常比率9.06%。其中单纯高龄203例,检出异常核型12例,异常率5.91%;流产胚胎54例,检出异常核型19例,异常率35.19%;超声异常(包括胎儿NT值≥3mm、胎儿水肿以及颅骨光环异常等)44例,检出异常核型17例,异常率38.63%;不良孕产史(反复流产,生育过先天性智力低下、生长发育异常等缺陷儿)189例,检出异常核型18例,异常率9.52%;其它(有烟酒史、孕期有生病服药史、血清学筛查高风险、夫妻双方或一方为异常染色体携带等)333例,检出异常核型9例,异常率2.70%;合并两项以上异常检查指征5例,未检出异常核型。75例异常核型中常染色体三体35例,性染色体异常13例,易位5例,mar2例,多倍体7例,嵌合体13例。结论绒毛染色体核型分析是孕早期产前诊断和分析胚胎停止发育原因准确而有效的检测方法,对异常核型胎儿早期干预,避免出生缺陷;对异常核型的流产胚胎进行下一胎的分险评估及优生咨询。
Objective：To discuss and clarify the application value and significance of karyotype analysis of chorionic villi in prenatal diagnosis. Methods：828 cases of chorionic villi samples were derived from the abdominal（718 cases）or vaginal puncture（56 cases）and aborted embryos（54 cases）. The villi organizations were used to prepare chromosome by tissue culture method and direct method separately,and G banding were made fetal karyotype analysis. According to the different indication to take appropriate amount of villus to the gene chip or FISH detection. Results：75 cases of abnormal karyotype were found in the 828 samples,and the abnormal rate was 9.06%. 12 cases of abnormal karyotype were detected among the 203 cases of simple elderly,the abnormal rate was 5.91%. 54 cases were aborted embryos,and 19 cases of them were abnormal karyotype. The abnormal rate was 35.19%. 17 cases of abnormal chromosome karyotype were detected in the 44 cases of ultrasonographic abnormalities（including fetal NT values≥ 3mm,fetal hydrops and skull ring anomaly）,the abnormal rate was 38.63%. 18 cases of abnormal karyotypes were detected in the 189 cases of adverse pregnancy history（recurrent miscarriage,birth of congenital mental retardation,abnormal growth and development defects,etc.）,the abnormal rate was 9.52%. 9 cases of abnormal chromosome karyotype were detected in the other 333 cases（history of alcohol and tobacco,history of drug taking in pregnancy sickness,high risk in serological screening,spouses or one of them carrying the abnormal chromosome,etc.）. The abnormal rate is 2.70%. 5 cases with two or more checked exceptions indications were not detected abnormalities. The 75 cases of abnormal karyotypes including 35 cases of autosomal trisomy,13 cases of sex chromosomal abnormalities,5 cases of translocation,2 cases of mar,7 cases of polyploid,and 13 cases of chimeras. Conclusion：Karyotype analysis of chorionic villi can be used for early diagnosis and early intervention to reduce the rate of birth d
出处
《中国优生与遗传杂志》
2017年第3期65-67,共3页
Chinese Journal of Birth Health & Heredity
关键词
产前诊断
绒毛细胞
染色体病
Prenatal diagnosis
Villus cells
Chromosome disease
