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目的通过高通量测序技术(即下一代测序技术,next generation sequencing,NGS)检测孕妇羊水细胞DNA,与染色体核型分析进行对比,探索NGS在羊水细胞产前诊断中的应用价值。方法选取孕龄在18~24周之间的高龄妊娠、唐氏综合征生化筛查高风险和(或)彩超显示胎儿异常并同意产前诊断的孕妇101例,抽取孕妇羊水,提取羊水细胞DNA,制备测序文库,应用Ion Proton测序仪检测,所得的DNA序列与人类DNA参考数据库比对并作统计分析,并与同一样本染色体核型分析进行对照分析。结果 101例羊水样本处理后经NGS技术检测判定2例染色体数目异常,37例染色体片段缺失/重复;羊水细胞培养检出2例染色体数目异常,2例9号染色体臂间倒位,2例多态性。结论利用高通量测序技术检测孕妇羊水中DNA诊断胎儿染色体数目异常,其特异性与染色体核型分析技术具有较高的一致性,并可检测出缺失/重复。染色体核型分析技术与高通量测序技术相结合在检测出生缺陷上具有较好的临床实际应用价值,并可进一步展开对疾病候选基因的研究。
Objective To detect the DNA of amniotic fluid in pregnant women by high-throughput sequencing technology (next generation sequencing, NGS) and compare with karyotype analysis to explore the value of NGS in prenatal diagnosis of amniotic fluid cells. Methods A total of 101 pregnant women with gestational age ranging from 18 to 24 weeks were enrolled in this study. 101 pregnant women with high risk of and / or prenatal diagnosis of Down’s syndrome due to high risk and / or color Doppler ultrasound examination and prenatal diagnosis were selected. , A sequencing library was prepared and detected by Ion Proton sequencer. The DNA sequence was compared with the human DNA reference database for statistical analysis and compared with the same sample karyotype analysis. Results In 101 cases of amniotic fluid samples, the number of chromosomal abnormalities in 2 cases was determined by NGS technique and the number of chromosome fragments was missing / repeated in 37 cases. The number of chromosomal abnormalities was found in 2 cases of amniotic fluid cell culture. State. Conclusion The high-throughput sequencing of DNA in amniotic fluid of pregnant women to detect fetal chromosomal abnormalities in the number of fetal abnormalities, its specificity and chromosome karyotyping technology has a high consistency, and can detect missing / repeated. Chromosome karyotype analysis combined with high-throughput sequencing technology in the detection of birth defects has a good clinical practical value, and can further expand the disease candidate gene research.