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目的分析妊娠中期染色体病高危胎儿染色体病的发生状况。方法对2003年9月至2007年3月间中国医科大学附属盛京医院662例染色体病高危孕妇进行羊膜腔穿刺,采取羊水细胞培养,制备中期染色体,分析胎儿核型,进行产前诊断。结果发现染色体异常21例,异常率3.2%,其中数目异常11例,结构异常10例,不同产前诊断指征分组中的异常率不同,以夫妇双方之一为平衡易位携带者组异常率最高,为53.8%。结论妊娠中期对染色体病高危孕妇进行羊水细胞培养染色体核型分析是产前诊断的重要手段,孕母血清筛查阳性、高龄、超声检查异常及染色体平衡易位携带者是羊水染色体检查的指征。
Objective To analyze the incidence of chromosomal diseases in high-risk fetuses in the second trimester of pregnancy. Methods From September 2003 to March 2007, 662 high-risk pregnant women with chromosomal disease at Shengjing Hospital affiliated to China Medical University were subjected to amniocentesis. Amniotic fluid cell culture was used to prepare metaphase chromosomes. Fetal karyotypes were analyzed for prenatal diagnosis. The results showed that there were 21 cases of chromosomal abnormalities with an abnormal rate of 3.2%. Among them, there were 11 cases with abnormal number and 10 cases with abnormal structure. The rates of abnormalities in different prenatal diagnosis groups were different. Highest, 53.8%. Conclusion Chromosomal karyotypic analysis of amniotic fluid cell cultures in pregnant women with high risk of chromosomal disease in the second trimester is an important means of prenatal diagnosis. Pregnant women with positive serum screening, advanced age, ultrasonographic abnormalities and chromosomal equilibrium translocations are the markers of amniotic fluid chromosome examination .