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目的:分析产前筛查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,为产前诊断提供帮助。方法:对2010-2011年652例产检高危孕妇进行羊水穿刺实验,细胞培养及染色体制备,G显带分析核型,产后随防。结果:发现30例异常染色体,异常率为4.60%,其中21-三体12例,18-三体2例,13-三体1例,性染色体异常4例,平衡易位4例,染色体倒位3例,染色体多态4例。结论:21-三体是妊娠中的主要异常核型,对高危孕妇做羊水穿刺行染色体检测是至关重要,同时进行系统B超检测胎儿畸形,对产前诊断工作的准确性及提高优生优育率具有十分重要的意义。
OBJECTIVE: To analyze the karyotypes of amniotic fluid chromosomes during the second trimester of prenatal screening for high-risk pregnant women and to explore the types, incidences and the correlation between the abnormalities of fetal karyotypes and the echocardiography, and to track the outcome of pregnancy so as to help prenatal diagnosis. Methods: A total of 652 high-risk pregnant women from 2010 to 2011 were subjected to amniocentesis, cell culture and chromosome preparation. G-banding was used to analyze the karyotype. Results: Abnormal chromosomes were found in 30 cases with an abnormality rate of 4.60%. There were 12 cases of 21-trisomy, 2 cases of 18-trisomy, 1 case of 13-trisomy, 4 cases of sex chromosome abnormality, 4 cases of balanced translocation, 3 cases, 4 cases of chromosome polymorphism. Conclusion: The 21-trisomy is the main abnormal karyotype in pregnancy. It is very important to detect amniocentesis in high-risk pregnant women. At the same time, the B-mode ultrasonography to detect fetal malformation, the accuracy of prenatal diagnosis and improve the prenatal and postnatal care Rate is of great importance.