低深度全基因组测序在大庆地区产前诊断的应用价值探讨  

The value of low depth whole genome sequencing in prenatal diagnosis in Daqing area

作　　者：王淑莉 邵静 宋一丽[1] 徐志文[1] 刘明媚[1] 佟香艳[1] Wang Shuli;Shao Jing;Song Yili;Xu Zhiwen;Liu Mingmei;Tong Xiangyan(Prenatal Diagnosis Center,Heilongjiang General Hospital of Daqing Oil Field,Daqing 163001,Heilongjiang,China)

机构地区：[1]黑龙江省大庆油田总医院产前诊断中心,黑龙江大庆163001

出　　处：《中国产前诊断杂志（电子版）》2022年第1期59-61,共3页Chinese Journal of Prenatal Diagnosis(Electronic Version)

摘　　要：目的分析低深度全基因组测序在大庆地区产前诊断的应用价值。方法选择大庆油田总医院于2021年1月1日至2020年12月31日的200例行羊膜腔穿刺产前诊断的妊娠孕妇作为本次研究对象,均实施染色体核型分析联合低深度全基因组测序(copy number variation sequencing,CNV-seq)技术诊断,观察其诊断结果。同时对50例孕早期流产患者进行流产病因学检测。结果对200例妊娠孕妇进行染色体核型分析联合CNV-seq技术检测,其中CNV-seq相比于核型分析多检出21例微缺失微重复综合征胎儿,其中7例为明确致病性拷贝数变异(copy number variation,CNV),14例为致病性未知CNV。50例流产物样本中,14例致病性CNV。结论CNV-seq能够有效弥补核型分析分辨率低的缺陷,可提高异常染色体检出率,同时可以明确流产的遗传学病因,为再次妊娠提供指导意义,值得大力推广于临床中。Objective To analyze the value of copy number variation sequencing in prenatal diagnosis in Daqing area.Methods 200pregnant women with amniocentesis prenatal diagnosis were selected from Daqing Oilfield General Hospital from December 1,2020to November 30,2020.Karyotype analysis and copy number variation sequencing(CNV-seq)were performed in all cases.At the same time,50cases of early pregnancy miscarriage were examined.Results Karyotype analysis and CNV-seq technique were performed on 200pregnant women.Combined with karyotype analysis and CNV-seq detected 21fetuses with microdeletion microduplication syndromes,7of which had clear pathogenic copy number variation(CNV)and 14 had unknown pathogenicity.Of the 50abortive samples,14 had pathogenic CNV.Conclusions CNV-seq can make up for the defect of low resolution of karyotype analysis,improve the detection rate of abnormal chromosomes,and clarify the genetic etiology of miscarriage.It is worth to be widely implemented in clinics.

关 键 词：低深度全基因组测序 产前诊断 应用价值 

分 类 号：R714.55[医药卫生—妇产科学]