【摘要】 目的讨论高龄孕妇与胎儿染色体异常发生的关系,分析产前细胞遗传学诊断的必要性。方法选择我院2010年1月到2016年6月478例优生遗传咨询的高龄孕妇为研究对象,在B超引导下行羊膜腔穿刺术,对羊水进行常规的细胞培养、染色体制备、G显带技术及染色体核型分析,并比较I组(35岁-37岁)、Ⅱ组(38岁-40岁)及Ⅲ组(≥41岁)孕妇胎儿染色体异常的发生率,从而分析高龄孕妇产前细胞遗传学诊断的临床价值。结果胎儿染色体核型异常有28例,本次染色体异常发生率为5.86%。其中I、Ⅱ、Ⅲ组孕妇胎儿染色体异常的发生率分别为3.66%(10/273)、8.33%(10/120)、9.41%(8/85);与I组比较,Ⅱ、Ⅲ组核型异常率明显升高(P﹤0.05),Ⅱ、Ⅲ组比较无显著差异(P>0.05)。结论随着孕妇年龄的增加,胎儿染色体异常的发生率也在不断增高,因此,高龄孕妇应该加强胎儿产前细胞遗传学诊断,从而避免染色体病缺陷儿的出生,提高优生率。更多还原

【Abstract】 Objective:To investigate the relationship between the abnormal occurrence of fetal chromosomal abnormalities in elderly women and analyze the necessity of prenatal cytogenetic diagnosis. Methods:Collect 478 cases of elderly pregnant women from January 2010 to June 2016 and use the amniocentesis under ultrasound guidance to conventional cell culture of amniotic fluid,using conventional chromosome preparation and G banding technique of pregnant woman fetal karyotype analysis,explore the result of the different age paragraph pregnant fetal chromosomal abnormalities and ratio. Results:There were 28 cases of fetal chromosomal abnormalities,the incidence rate of the abnormal chromosome was 5.86%. the three ages of pregnant women the incidence of fetal abnormal chromosome karyotype were 3.66%(10/273),8.33%(10/120)and 9.41%(8/85). Conclusion:With increasing maternal age and fetal chromosomal abnormalities occur rate is constantly increasing. So older women should strengthen prenatal cytogenetic diagnosis,to avoid the birth chromosome disease defects in children and improve the rate of Healthy birth.更多还原