解放军医学院学报Issue(8)：808-810,813,4.DOI:10.3969/j.issn.2095-5227.2013.08.005
染色体荧光原位杂交快速产前诊断染色体数目异常
Rapid prenatal diagnosis of abnormal chromosomes by fluorescence in situ hybridization
姜淑芳 1卢彦平 1付玉荣 1汪淑娟 1张立文 1李亚里 1高志英1
作者信息
- 1. 解放军总医院 妇产科，北京 100853
- 折叠
摘要
Abstract
Objective To study the techniques for prenatal diagnosis of abnormal chromosomes. Methods Amniotic fluid or umbilical cord blood samples were taken from pregnant women who visited our department from April 2010 to August 2012. Their prenatal abnormal chromosomes were diagnosed by fluorescence in situ hybridization (FISH) and routine chromosome karyotyping, respectively, and compared. Results The average time of chromosome karyotype analysis was 4-5 weeks. Of the 492 amniotic fluid or umbilical cord blood samples that were analyzed, 2 were failed. The chromosome karyotype analysis showed that the total abnormal chromosomes accounted for 8.74% (43/492), the abnormal chromosomes accounted for 81.40% of the total abnormal chromosomes (35/43), the chromosomes with abnormal structures accounted for 18.60%(8/43), the trisomes 21 and 18 accounted for 74.29%(26/35) and 17.14%(6/35) respectively, the abnormal sex chromosomes accounted for 8.57%(3/35). The average time of FISH was 72-96 h. The FISH showed that the abnormal chromosomes accounted for 7.09%(35/494), and the trisomes 21 and 18 accounted for 74.29%(26/35)and 17.14%(6/35) respectively, and the abnormal sex chromosomes accounted for 8.57%(3/35), which were consistent with those of chromosome karyotype analysis. No abnormal chromosome structure was detected by FISH. Conclusion FISH can diagnose the prenatal abnormal trisomes 21, 18, 13 and sex chromosome monosome and trisome. FISH in combination with chromosome karotype analysis is strategy for understanding the chromosome.关键词
染色体/荧光原位杂交/核型分析/产前诊断Key words
chromosome/fluorescent in situ hybridization/karyotyping/prenatal diagnosis分类
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姜淑芳,卢彦平,付玉荣,汪淑娟,张立文,李亚里,高志英..染色体荧光原位杂交快速产前诊断染色体数目异常[J].解放军医学院学报,2013,(8):808-810,813,4.
