【摘要】：目的 :探討應用高通量基因測序檢測胎兒性染色體非整倍體的可行性。方法 :選擇2012年5月—2015年5月在常州市婦幼保健院產(chǎn)前診斷中心就診的3 218例單胎孕婦,在知情同意的原則下抽取孕婦外周血,提取血漿中胎兒游離DNA,制備文庫,采用Illumina Next Seq CN500測序平臺對其進行測序分析,對測序提示的性染色體異�；颊咝醒蚰で淮┐�,羊水細胞培養(yǎng)后染色體G顯帶核型分析。結(jié)果:3 218例樣本中,高通量基因測序提示16例性染色體非整倍體。經(jīng)知情同意,12例孕婦自愿接受羊水產(chǎn)前診斷,其中8例羊水G帶核型結(jié)果與測序結(jié)果一致。包括3例45,X;3例47,XXX;2例47,XXY;其余4例G帶核型正常。結(jié)論:高通量基因測序可用于胎兒性染色體非整倍體的產(chǎn)前檢測,但還需改進測序方案,積累臨床數(shù)據(jù),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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