高通量基因测序在胎儿性染色体非整倍体产前检测中的应用价值

发布时间：2019-05-18 04:39

【摘要】：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。
[Abstract]:Objective: to investigate the feasibility of detecting fetal sex chromosome aneuploidy by high throughput gene sequencing. Methods: from May 2012 to May 2015, 3218 single pregnant women were selected from the antenatal diagnosis center of Changzhou Maternal and Child Health Hospital. The peripheral blood of pregnant women was collected with informed consent, and the fetal free DNA, library was extracted from plasma. The patients with abnormal sex chromosomes were sequenced by Illumina Next Seq CN500 sequencing platform. Amniotic cavity puncture and G-banding karyotype analysis of amniotic fluid cells were performed in patients with abnormal sex chromosomes suggested by sequencing. Results: in 3218 samples, 16 cases of sex chromosome aneuploidy were suggested by high throughput gene sequencing. With informed consent, 12 pregnant women voluntarily accepted the pre-diagnosis of amniotic fluid, of which 8 cases of amniotic fluid G-banding karyotype were consistent with the sequencing results. There were 3 cases 45, X 鈮，

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