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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 investigate and clarify the value and significance of chorionic karyotype analysis in prenatal diagnosis. Methods A total of 828 villi specimens were selected, of which 718 were from the abdomen, 56 from the cervical aspiration method and 54 from aborted embryos. Chorionic villi were prepared by tissue culture method and direct method respectively, and G banding was performed for karyotype analysis. In addition, each sample was given appropriate amount of villi for array-CGH or fluorescence in situ hybridization FISH) test. Results A total of 75 abnormal karyotypes were detected, with an abnormal rate of 9.06%. There were 203 cases of simple age and 12 cases of abnormal karyotype, the rate of abnormality was 5.91%. Abortion embryo was found in 54 cases, of which 19 cases were abnormal, with an abnormal rate of 35.19%. Ultrasound abnormalities (including fetus NT value≥3mm, fetal edema and Skull aura abnormalities, etc.), 44 cases were detected in 17 cases of abnormal karyotype, abnormal rate of 38.63%; 189 cases of adverse pregnancy history (recurrent miscarriage, congenital hypoplasia, growth and development defects and other defects)), detected abnormal nuclei Type, 18 cases, abnormal rate of 9.52%; other (with alcohol and tobacco history, pregnancy medication history, high risk of serological screening, husband and wife or an abnormal chromosomal carrier, etc.) 333 cases were detected in 9 cases of abnormal karyotype, Abnormal rate of 2.70%; combination of two or more abnormalities in indications 5 cases, no abnormal karyotype detected. There were 35 autosomal trisomy in 75 cases of abnormal karyotype, 13 cases of sex chromosome abnormality, 5 cases of translocation, 2 cases of marg, 7 cases of polyploid and 13 cases of chimerism. Conclusion Karyotype analysis of chorionic villus chromosomes is an accurate and effective method for prenatal diagnosis and analysis of embryo stop development in early pregnancy. Early karyotype analysis of fetal karyotypes can avoid birth defects. Abnormal fetal karyotype Risk assessment and eugenics counseling.