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目的应用染色体核型分析和荧光原位杂交(FISH)技术对589例孕妇的羊水细胞进行检测,探讨两种方法用于产前诊断的临床意义。方法对589例有产前诊断指征的孕妇行羊膜腔穿刺术,获得羊水细胞分别进行染色体核型分析及FISH检测(13、18、21、X、Y号染色体)。结果在589例患者中染色体核型分析共发现56例染色体异常(包括43例非整倍体),染色体异常率为9.5%(56/589),非整倍体率为76.8%(43/56)。FISH共发现43例13,18,21,X和Y染色体异常;4例染色体易位,3例染色体到位,2例嵌合体,4例染色体多态性,共13例未被FISH检出。结论染色体核型分析可检出全部染色体数目及结构异常,FISH技术用于产前诊断的效率和成功率高,但单纯FISH诊断会出现小概率的漏诊,可与核型分析互补缺陷,使产前诊断效能最大化。
Objective To detect the amniotic fluid cells of 589 pregnant women by chromosomal karyotyping and fluorescence in situ hybridization (FISH), and to explore the clinical significance of the two methods for prenatal diagnosis. Methods Amniocentesis was performed on 589 pregnant women with prenatal diagnosis indications. Chromosomal karyotype analysis and FISH detection were performed on amniotic fluid cells (chromosomes 13, 18, 21, X and Y). Results A total of 56 chromosomal abnormalities (including 43 aneuploidy) were found in 589 cases of chromosomal karyotype analysis. The rate of chromosomal abnormality was 9.5% (56/589), and aneuploidy rate was 76.8% (43/56 ). FISH detected 43 cases of 13, 18, 21, X and Y chromosome abnormalities; 4 cases of chromosomal translocations, 3 cases of chromosomes in place, 2 cases of chimerism, 4 cases of chromosome polymorphism, a total of 13 cases were not detected by FISH. Conclusion Chromosome karyotype analysis can detect all chromosomes and structural abnormalities. The efficiency and success rate of FISH for prenatal diagnosis is high. However, the simple FISH diagnosis may be missed with a small probability, which can be complemented by karyotype analysis, Maximize the effectiveness of pre-diagnosis.