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目的探讨产前Bobs检测技术联合传统染色体核型分析技术,在具有产前诊断指征孕妇产前诊断中的应用价值。方法选取2016年3-12月该院921例具有产前诊断指征的单胎孕妇羊水,同时行产前Bobs与传统羊水染色体G显带核型分析,并比较染色体异常的检测结果。结果在921例羊水样本中,Bobs的异常检出率为5.87%,染色体核型分析的异常检出率为5.86%,Bobs对5条染色体非整倍体(13、18、21、X和Y染色体)的检测结果与羊水染色体核型分析一致,共检出例45例,包括21-三体综合征29例,18-三体综合征9例,13-三体综合征2例,性染色体数目异常5例。与核型分析相比,Bobs技术检出9例微缺失/重复综合征:1例威廉姆斯综合征、3例Xp22.31微缺失综合征、1例5p15重复综合征、1例Di George综合征(微重复)、3例Yp11.2缺失综合征;Bobs检测的以上9例染色体微缺失/重复综合征,经常规的染色体核型分析未发现异常。但核型分析发现6例平衡易位、3例低比率嵌合型数目异常和10例染色体多态性变化,Bobs并未检测到。Bobs检测联合核型分析的异常检出率为6.84%,比单一体核型分析提高了16.7%。结论产前Bobs技术联合传统核型分析技术可以对大量产前诊断样本进行快速诊断,且能更加全面的检测胎儿染色体异常,预防出生缺陷,具有较高的临床应用价值。
Objective To investigate the value of prenatal detection of Bobs combined with traditional karyotype analysis in the prenatal diagnosis of pregnant women with prenatal diagnosis. Methods A total of 921 pregnant women with prenatal diagnosis of amniotic fluid from March 2016 to December 2016 were enrolled in this study. The karyotypes of prenatal Bobs and conventional amniotic fluid were analyzed by G-banding, and the results of chromosomal abnormalities were compared. Results In 921 cases of amniotic fluid samples, the detection rate of Bobs was 5.87%, and the detection rate of chromosome aberration was 5.86%. Bobs had no significant difference on 5 chromosome aneuploidy (13, 18, 21, X and Y Chromosome) were consistent with the karyotype analysis of amniotic fluid chromosome. A total of 45 cases were detected including 29 cases of 21-trisomy syndrome, 9 cases of 18-trisomy syndrome, 2 cases of 13-trisomy syndrome and 2 cases of sex chromosome The number of abnormalities in 5 cases. Compared with karyotype analysis, Bobs’ technology detected 9 cases of microdeletion / repetitive syndromes: 1 case of Williams syndrome, 3 cases of Xp22.31 microdeletion syndrome, 1 case of 5p15 repeat syndrome and 1 case of Di George syndrome (Microseplication), 3 cases of Yp11.2 deletion syndrome; Bobs detected more than 9 cases of chromosomal microdeletion / repetition syndrome, the conventional chromosome karyotype analysis found no abnormalities. However, karyotype analysis showed that 6 cases of balanced translocation, 3 cases of low ratio chimeric number abnormalities and 10 cases of chromosome polymorphism, Bobs did not detect. The detection rate of abnormality of the combined karyotype analysis by Bobs was 6.84%, which was 16.7% higher than the univariate analysis. Conclusion Prenatal Bobs combined with traditional karyotyping technique can rapidly diagnose a large number of prenatal diagnostic samples, and can detect fetal chromosomal abnormalities more comprehensively and prevent birth defects, which has a high clinical value.