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目的:探讨羊水细胞染色体核型分析在不同指征产前诊断中的应用。方法:无菌条件下经B超介导对1 020例孕15~24周的孕妇行羊膜腔穿刺,每例抽取羊水20 ml,羊水细胞培养、染色体制备及核型分析。结果:共收集1 020例羊水标本,1 018例培养成功,成功率为99.80%。不同产前诊断指征检出率各异,对1 018例羊水细胞进行染色体核型分析,核型异常36例,检出率为3.54%;以21-三体、18-三体较为常见,其中21-三体18例,18-三体5例,其他异常核型13例。此外,还存在染色体多态现象56例,以9号倒位、1qh+、15pstk+、16qh+等最多见。结论:羊水细胞染色体核型分析对于诊断胎儿染色体病、降低出生缺陷发生率有重要意义。
Objective: To investigate the application of karyotype analysis of amniotic fluid cells in prenatal diagnosis of different indications. Methods: A total of 1 020 pregnancies aged 15-24 weeks were en blocded with amniocentesis under aseptic conditions via B-mode ultrasound. 20 ml amniotic fluid, amniotic fluid cell culture, chromosome preparation and karyotype analysis were performed in each case. Results: A total of 1 020 cases of amniotic fluid collected, 1 018 cases were successfully cultured, the success rate was 99.80%. Different prenatal diagnosis indications were detected in different rates, 1 018 cases of amniotic fluid cell chromosome karyotype analysis, abnormal karyotype in 36 cases, the detection rate was 3.54%; 21- trisomy 18- trisomy is more common, Among them, 21 cases of trisomy 18 cases, 18 cases of trisomy 5 cases and 13 cases of other abnormal karyotype. In addition, there are 56 cases of chromosomal polymorphism, with 9 inverted, 1qh +, 15pstk +, 16qh + and other most common. Conclusion: The karyotype analysis of amniotic fluid cells is important for the diagnosis of fetal chromosomal diseases and the reduction of the incidence of birth defects.