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目的 :探讨应用高通量基因测序检测胎儿性染色体非整倍体的可行性。方法 :选择2012年5月—2015年5月在常州市妇幼保健院产前诊断中心就诊的3 218例单胎孕妇,在知情同意的原则下抽取孕妇外周血,提取血浆中胎儿游离DNA,制备文库,采用Illumina Next Seq CN500测序平台对其进行测序分析,对测序提示的性染色体异常患者行羊膜腔穿刺,羊水细胞培养后染色体G显带核型分析。结果:3 218例样本中,高通量基因测序提示16例性染色体非整倍体。经知情同意,12例孕妇自愿接受羊水产前诊断,其中8例羊水G带核型结果与测序结果一致。包括3例45,X;3例47,XXX;2例47,XXY;其余4例G带核型正常。结论:高通量基因测序可用于胎儿性染色体非整倍体的产前检测,但还需改进测序方案,积累临床数据,提高效果。
Objective: To explore the feasibility of using high-throughput sequencing to detect fetal chromosomal aneuploidy. Methods: From May 2012 to May 2015, 3 218 pregnant women with a single fetus who were treated at the prenatal diagnosis center of Changzhou MCH center were enrolled in this study. Peripheral blood of pregnant women was extracted under the condition of informed consent, and fetal DNA was extracted from plasma to prepare The library was sequenced by using Illumina Next Seq CN500 sequencing platform. Amniocentesis and amniotic fluid cell culture were used to analyze the G-banding karyotype of the chromosomes. Results: Of the 3 218 samples, high-throughput gene sequencing revealed 16 cases of aneuploidy. After informed consent, 12 cases of pregnant women voluntarily accept prenatal diagnosis of amniotic fluid, of which 8 cases of amniotic fluid G-band karyotype results and sequencing results. Including 3 cases 45, X; 3 cases 47, XXX; 2 cases 47, XXY; the remaining 4 cases of G with normal karyotype. Conclusion: High-throughput gene sequencing can be used for prenatal detection of fetal aneuploidy, but sequencing programs need to be improved to accumulate clinical data and improve outcomes.