论文部分内容阅读
目的探讨荧光原位杂交(fluorescence in situ hybridization,FISH)技术和羊水细胞培养、核型分析技术在产前诊断胎儿染色体数目和结构异常中的价值。方法对200例孕18-23w、有产前诊断指征者,在B超引导下经腹抽取羊水后,一部分羊水应用13、18、21及X、Y染色体探针,对未培养的羊水间期细胞进行荧光原位杂交检测(FISH)。另一部分羊水进行细胞培养,进行染色体核型分析。结果 200例产前诊断者中,经FISH检测,羊水间期细胞染色体数目正常者189例,染色体数目异常者11例(其中7例47,XN,+21,1例47,XX,+18,2例45,X,1例47,XXY),此11例经引产后取脐血,经核型分析证实。进行细胞培养的标本中有2例培养失败,再次抽取羊水后培养成功。异常12例,其中数目异常11例,结构异常1例(新发罗氏易位),多态性9例。结论 FISH可以快速、准确的诊断胎儿染色体数目异常,核型分析可以全面的诊断胎儿染色体数目和结构异常,产前诊断中应将两者结合运用。
Objective To investigate the value of fluorescence in situ hybridization (FISH), amniotic fluid cell culture and karyotype analysis in the diagnosis of fetal chromosome number and structural abnormalities. Methods 200 cases of pregnancy 18-23w, prenatal diagnosis of indications, after transabdominal extraction of amniotic fluid under the guidance of B ultrasound, part of amniotic fluid using 13, 18, 21 and X, Y chromosome probes on uncultured amniotic fluid Phase cells were detected by fluorescence in situ hybridization (FISH). Another part of amniotic fluid cell culture, chromosome karyotype analysis. Results Among the 200 prenatal diagnosis cases, there were 189 cases with normal chromosome number in interphase of amniotic fluid and 11 cases with abnormal chromosome number (7 of 47, XN, + 21, 1 case of 47, XX, + 18, 2 cases of 45, X, 1 cases of 47, XXY), the 11 cases of umbilical cord blood after induction of labor, confirmed by karyotype analysis. Two of the specimens that were cultured in the cell failed to grow, and the culture was repeated after the amniotic fluid was extracted. Abnormalities in 12 cases, of which 11 cases were abnormal, 1 cases of structural abnormalities (new Roche translocation), 9 cases of polymorphism. Conclusion FISH can quickly and accurately diagnose fetal chromosomal abnormalities. Karyotype analysis can comprehensively diagnose fetal chromosome number and structural abnormalities, and both should be used in prenatal diagnosis.