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目的探讨对于血清学筛查临界风险的孕妇应用高通量基因测序价值。方法选择2012年5月至2015年5月在常州市妇幼保健院产前诊断中心就诊的1 066例血清学筛查临界风险的孕妇,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 NextSeq500测序平台对其进行测序分析,对测序提示的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 1 066例样本中,高通量基因测序提示15例染色体非整倍体异常,经知情同意,13例孕妇自愿接受羊水产前诊断,其中7例羊水G带核型结果与测序结果一致,包括4例21三体,1例18三体,1例47,XXX,1例47,XXY,其余6例G带核型正常。结论高通量基因测序可作为血清学筛查临界风险孕妇的有效补充检测手段。
Objective To investigate the value of high-throughput gene sequencing for pregnant women with critical risk of serological screening. Methods A total of 1066 pregnant women with critical risk of serological screening in prenatal diagnosis center of Changzhou Maternal and Child Health Hospital from May 2012 to May 2015 were selected and their pregnant women were drawn out on the principle of informed consent. Free DNA was prepared. The library was sequenced and sequenced by using Illumina NextSeq500 sequencing platform. Amniocentesis was performed on patients with chromosomal abnormalities prompted by sequencing, and G-banding karyotype was analyzed after amniotic fluid cell culture. Results In 1 066 samples, high-throughput sequencing showed 15 cases of aneuploidy. After informed consent, 13 pregnant women voluntarily received prenatal diagnosis of amniotic fluid. Seven cases of amniotic fluid G-band karyotype were consistent with the sequencing results, Including 4 cases of trisomy 21, 1 case of trisomy 18, 1 case of 47, XXX, 1 case of 47, XXY, the remaining 6 cases with normal G-band. Conclusion High-throughput gene sequencing can be used as an effective supplementary test for serological screening of pregnant women at critical risk.