| 摘要: |
| ［摘要］ 目的 探讨基因组测序技术在产前诊断胎儿染色体异常中的价值。方法 选取2013-12～2014-05在广西壮族自治区人民医院就诊，孕龄在18～24周的高龄妊娠、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60例，抽取孕妇羊水，提取羊水DNA，制备测序文库，应用Ion Proton测序仪检测，所得的基因序列与人类的参考基因组比对并作统计分析。并与同一样本经细胞培养后进行染色体核型分析进行对照分析。结果 60例羊水样本处理后经大规模平行基因组测序技术检测判定3例为染色体拷贝数异常，57例无明显异常；以羊水细胞染色体核型分析为对照，检出6例异常结果。结论 利用大规模平行基因组测序技术检测孕妇羊水中DNA诊断胎儿染色体异常，其特异性与染色体核型分析技术具有较高的一致性。该技术具有高准确性、高通量、高灵敏度和低成本等优点，具有临床实际应用价值。 |
| 关键词: 基因组测序技术 核型分析 染色体 |
| DOI：10.3969/j.issn.1674-3806.2016.01.02 |
| 分类号:R 714.55 |
| 基金项目:广西自然科学基金资助项目（编号：2011GXNSFA018302）；广西科学研究与技术开发计划课题（编号：桂科攻1140003B-66） |
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| Prenatal diagnosis of fetal chromosomal abnormality by genomic sequencing technology |
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HUANG Li, HE Bing, WANG Shi-kai, et al.
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Reproductive and Genetic Center, the People′s Hospital of Guangxi Zhuang Autonomous Region, Nanning 530021, China
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| Abstract: |
| ［Abstract］ Objective To explore the prenatal diagnosis of chromosome abnormality by detecting free DNA in maternal amniotic fluid by using massively parallel genomic sequencing technology.Methods The amniotic fluid samples from 60 pregnant women were collected from December 2013 to May 2014 at the People′s Hospital of Guangxi Zhuang Autonomous Region. Those pregnant women had a gestational age of 18 to 24 weeks and high risks of Down syndrome and/or fetal abnormalities shown by color Doppler ultrasound. The amniotic fluid samples were drawn from the pregnant women and their amniotic fluid DNAs were extracted for preparing a sequencing library. By using Ion Proton, high-throughput sequencing procedure was carried out. The sequencing data were compared with the human reference gene-database and statistically analyzed. Simultaneously, the amniotic fluid cells were cultured for chromosomal karyotyping which compared with the massively parallel genomic sequencing technology.Results By massively parallel genomic sequencing, in 3 out of 60 cases showed chromosome copy number abnormalities, 57 cases have no obvious abnormity. By the standard of chromosomal karyotypic analysis, there were 6 chromosomal abnormalities.Conclusion Massively parallel genomic sequencing is highly consistent with karyotypic analysis in sensitivity and specificity for prenatal diagnosis of the fetus chromosome abnormalities by detecting amniotic fluid DNA in pregnant women and has great advantages of high accuracy, high throughput, high sensitivity, and low cost in clinical practice. |
| Key words: Genomic sequencing technology Karyotypic analysis Chromosome |
