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目的分析产前诊断指征高危孕妇孕中期的羊水染色体核型,探讨出胎儿异常核型出现的类型、发生率及系统超声的相关性,追踪妊娠结局,为产前诊断提供结验。方法对2009年至2011年来我院进行羊水穿刺实验,进行细胞培养及染色体制备,G显带分析核型,产后随防。结果 846例中发现42例异常染色体,异常率为4.96%,其中21-三体16例,18-三体4例,13-三体2例,性染色体异常5例,平衡易位7例,染色体倒位3例,染色体多态5例。结论对高危孕妇做羊水穿刺行染色体检测是至关重要,能及时发现胎儿染色体异常,有效预防出生缺陷的发生。
OBJECTIVE: To analyze the karyotype of amniotic fluid chromosomes in the second trimester of pregnant women at high risk of prenatal diagnosis and to find out the types, incidence and the correlation of the abnormalities of fetal karyotypes, and to track the pregnancy outcome to provide a test for prenatal diagnosis. Methods From 2009 to 2011 in our hospital amniocentesis experiments, cell culture and chromosome preparation, G banding karyotype analysis, with the prevention after delivery. Results There were 42 abnormal chromosomes in 846 cases, the abnormality rate was 4.96%. There were 16 cases of 21-trisomy, 4 cases of 18-trisomy, 2 cases of 13-trisomy, 5 cases of sex chromosome abnormality, 7 cases of balanced translocation, 3 cases of chromosome inversion, chromosome polymorphism in 5 cases. Conclusions It is very important to detect amniocentesis in high-risk pregnant women for chromosomal detection of amniocentesis, which can detect fetal chromosomal abnormalities in time and effectively prevent the occurrence of birth defects.