高通量基因测序对血清学筛查临界风险孕妇的应用价值

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1066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1066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。

Application of high-throughput sequencing in pregnant women with critical risk of serological screening

Objective To evaluate the clinical value of the application high‐throughput sequencing for the detection of fetal chromosome in pregnant women with critical risk .Methods A total of 1 066 pregnant women with critical risk of serological screening were collected from May 2012 to May 2015 at our center .The peripheral venous blood from the pregnant women was drawn ,plasma DNA was extracted ,and the sequencing library was prepared .High‐throughput sequencing procedure was carried out on Illumina NextSeq500 platform .The cases of sex chromosomal abnormalities were advised to accept prenatal fetal chromosomal karyotype analysis of amniotic fluid cells using G‐banding technique .Results High‐throughput sequencing revealed 15 cases of sex chromosomal aneuploidies in 1 066 pregnant women .After receiving informed consent ,13 cases of pregnant women voluntarily re‐ceived amniotic fluid prenatal diagnosis ,of which 7 cases were consistent with the sequencing results ,including four cases of Triso‐my21 ,one cases of Trisomy18 ,one cases of 47 ,XXX and one cases of 47 ,XXY ,while the other six cases were confirmed to be nor‐mal karyotype .Conclusion High‐throughput sequencing can be used as an effective method for the detection of critical pregnant women with critical risk .