论文部分内容阅读
目的探讨改良的羊水细胞培养技术联合荧光原位杂交(FISH)对中晚孕期孕妇进行产前诊断的应用价值。方法改进培养方法、建立收获标准、改良染色体制备过程,对71例孕25-39 w具有产前诊断指征的孕妇进行羊水细胞培养并联合FISH进行核型分析。结果羊水细胞培养和FISH分析成功率均为100%。发现异常核型8例,异常比例为11.3%。其中18三体3例,13三体1例,47,XXX 1例,4号和9号染色体臂间倒位各1例,46,XY/45,X0嵌合体1例;除4号和9号染色体臂间倒位不在FISH检测范围外,其余6个染色体异常FISH与核型均同时检出,两者符合率100%。结论较大孕周同样可以进行羊水细胞培养和染色体分析,联合FISH可快捷明确地诊断染色体病,使羊膜腔穿刺进行产前诊断的时间窗延长,降低脐静脉穿刺率和风险。
Objective To investigate the value of modified amniotic fluid cell culture combined with fluorescence in situ hybridization (FISH) for prenatal diagnosis of pregnant women in middle and late pregnancy. Methods To improve the culture method, establish the harvesting standard and improve the process of chromosome preparation. A total of 71 pregnant women with gestational age 25-39 w with prenatal diagnosis were enrolled in the amniotic fluid culture and combined with FISH for karyotype analysis. Results The success rate of amniotic fluid cell culture and FISH analysis was 100%. Abnormal karyotypes were found in 8 cases, the abnormal ratio was 11.3%. Among them, 18 were trisomy 18, 1 was trisomy 13, 1 was 47 and XXX, 1 was inverted in arm 4 and 9, 1 was in 46, XY / 45 and X0 chimera respectively. Except 4 and 9 The chromosomal arm inversion was not outside the scope of FISH detection. The other 6 chromosomal aberrations FISH and karyotype were detected simultaneously, the coincidence rate was 100%. Conclusion Larger gestational weeks can also be used for amniotic fluid cell culture and chromosome analysis. Combined FISH can quickly and clearly diagnose chromosomal diseases, prolong the prenatal diagnosis of amniocentesis and reduce the rate and risk of umbilical vein puncture.