【摘要】 目的:探讨高通量测序技术在产前诊断中的应用价值。方法:选取本院产前诊断中心门诊就诊、有细胞遗传学产前诊断指证孕妇244例行羊膜腔穿刺术,传统染色体核型分析同时行高通量测序检测,分析比较两种方法染色体异常检出及胎儿结局。结果:核型分析检测出数目异常8.9%(20/244),包括结构异常(倒位易位)9.8%(24/244);而高通量测序检出染色体畸变11.9%(29/244),多态性和致病性不明确56.2%(137/244)。在核型正常病例中,高通量测序额外检出染色体微缺失/微重复异常2.6%。结论:利用高通量测序技术诊断胎儿染色体拷贝数异常,其对染色体数目异常的特异性与核型分析技术诊断一致,并可检测出100kb以上的微缺失/微重复。两种技术相结合可检测出更多有临床意义的染色体畸变,在产前诊断中具有较好的临床应用价值,对开展微缺失/微重复综合征的致病机理研究提供技术支持。更多还原

【Abstract】 Objective: To explore the application value of high-throughput sequencing technology(HTST) in prenatal diagnosis. Methods: 244 women with prenatal diagnosis indications who had been performed conventional karyotype analysis and HTST were selected in this study. The rate of chromosomal abnormalities detected and fetal outcome were analyzed and compared between the two methods. Results: The number of fetal chromosomal abnormalities by karyotype analysis accounted for 8.9%(20/244) and the chromosomal structural abnormalities(chromosome inversion or translocation) of fetus accounted for 9.8%(24/244). And the rate of fetal chromosomal abnormalities by HTST was 11.9%(29/244), which included 56.2%(137/244) fetus with polymorphism and pathogenic ambiguous. In the fetus with chromosomal normality by karyotype analysis, there was 2.6% fetus with chromosome microdeletion or microduplication by HTST. Conclusion: The diagnostic consistency of fetus with abnormal chromosome copy number by HTST has the same as that by chromosome karyotype analysis, and the HTST can detect microdeletion or microduplication more than 100 KB. Chromosome karyotype analysis combined with HTST can find more fetuses with chromosomal aberrations, which have some clinical application value in prenatal diagnosis, and can provide evidence for researching the pathogenesis of fetal chromosomal microdeletion or microduplication syndrome.更多还原