广州地区6000例羊水细胞染色体核型分析及其产前诊断价值探讨

发布时间：2018-04-09 14:56

本文选题：产前诊断　切入点：羊水　出处：《重庆医学》2015年15期

【摘要】：目的分析羊水细胞染色体,比较不同异常核型的发生率及其在产前诊断中的应用价值。方法选择2010年1月至2013年9月到该院就诊有产前诊断指征的孕妇6 000例,行羊膜腔穿刺术、传代法羊水细胞培养及胎儿染色体核型分析。结果 6 000例羊水培养成功5 994例(99.90%),异常核型193例(3.22%)。其中,染色体数目异常108例,占异常核型的55.96%,以21三体为主,占数目异常的67.59%(73/108);结构异常60例,占异常核型的31.09%,其中平衡性结构重排38例(19.69%),非平衡性结构重排22例(11.40%);嵌合体25例(12.95%)。将孕妇按进行穿刺的首要指征分为6组,血清学筛查高风险组和高龄组分别占受检人数41.62%和33.70%,B超检查示胎儿异常组和夫妇一方染色体异常组的核型异常检出率分别为5.56%和20.00%,与其他组比较差异有统计学意义(P0.05)。结论传代法羊水细胞体外培养对核型分析具有实用性。羊水染色体核型分析是安全、有效的诊断胎儿染色体病的方法。
[Abstract]:Objective to analyze the chromosomes of amniotic fluid cells and compare the incidence of different abnormal karyotypes and their value in prenatal diagnosis.Methods from January 2010 to September 2013, 6 000 pregnant women who had prenatal diagnosis indications were selected for amniocentesis, culture of amniotic fluid cells and karyotype analysis of fetus.Results 5 994 cases were successfully cultured with amniotic fluid and 193 cases were abnormal karyotype.There were 108 cases of abnormal chromosome number, which accounted for 55.96% of abnormal karyotype, mainly trisomy 21, 67.5973 / 108m of abnormal number, 60 cases of structural abnormality, accounting for 31.09% of abnormal karyotype, 38 cases of balanced structural rearrangement, 22 cases of non-equilibrium structural rearrangement, and 25 cases of chimera 12.95m.The pregnant women were divided into 6 groups according to the first indication of puncture.Conclusion the method of passage amniotic fluid culture in vitro is useful for karyotype analysis.Amniotic fluid chromosome karyotype analysis is a safe and effective method for diagnosis of fetal chromosome disease.
【作者单位】：广州医科大学附属第三医院妇产科研究所实验室/广东省产科重大疾病实验室;
【基金】：国家自然科学基金资助项目(81302079) 广州医科大学青年基金资助项目(2012C10) 广州医科大学附属第三医院青年基金资助项目(2012Y15)
【分类号】：R714.5

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