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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。
Objective To discuss the relationship between advanced pregnant women and fetal chromosomal abnormalities and to analyze the necessity of prenatal cytogenetic diagnosis. Methods A total of 478 pregnant women with prenatal genetic counseling from January 2010 to June 2016 in our hospital were enrolled in this study. Amniocentesis was performed under the guidance of B-ultrasound. Conventional cell culture, chromosome preparation and G-banding technique were performed on amniotic fluid. And chromosome karyotype analysis. The incidence of fetal chromosomal abnormalities in I group (35-37 years old), Ⅱ group (38-40 years old) and Ⅲ group (≥41 years old) were compared to analyze the correlation between the prenatal cells The clinical value of genetic diagnosis. Results Fetal karyotype abnormalities in 28 cases, the incidence of chromosomal aberrations was 5.86%. The incidence of fetal chromosomal abnormalities in group I, II and III were 3.66% (10/273), 8.33% (10/120) and 9.41% (8/85), respectively. Compared with group I, (P <0.05). There was no significant difference between group Ⅱ and Ⅲ (P> 0.05). Conclusion As the age of pregnant women increases, the incidence of fetal chromosomal abnormalities is also increasing. Therefore, pregnant women should strengthen prenatal cytogenetic diagnosis to avoid the birth of chromosome defects and improve the rate of eugenics.