基于低深度全基因组测序技术的拷贝数变异测序辅助诊断胎儿巨细胞病毒感染3例并文献复习  

Copy number variation sequencing for diagnosis of cytomegalovirus infection based low⁃depth whole⁃genome sequencing technology in fetus:Three cases and literature review

作　　者：柴世伟 陈泽俊[1] 刘春桃 陈甦 何桂林 陈月芬 王瑞霞 朱薪 凌奕[1] 顾硕 CHAI Shi‐wei;CHEN Ze‐jun;LIU Chun‐tao;CHEN Su;HE Gui‐lin;CHEN Yue‐fen;WANG Rui‐xia;ZHU Xin;LING Yi;GU Shuo(Department of Fetal Medicine,First Affiliated Hospital of Hainan Medical College,Haikou 570102,China)

机构地区：[1]海南医学院第一附属医院胎儿医学科,海南海口570102

出　　处：《海南医学院学报》2023年第14期1093-1097,共5页Journal of Hainan Medical University

基　　金：海南省自然科学基金(821RC699);海南省自然科学基金(822RC825);海南省卫生健康行业科研项目(22A200242);海南省重点研发计划(ZDYF2020225)。

摘　　要：目的:总结拷贝数变异测序(copy number variant sequencing,CNV‐seq)对检测胎儿染色体及巨细胞病毒载量的应用价值。方法:分析CNV‐seq检测胎儿染色体及巨细胞病毒载量的3例巨细胞病毒载量阳性患者的临床基础资料、相关实验室检查、治疗过程及转归并文献复习。结果:3例病例中患者羊水巨细胞病毒载量均小于105 Copies/mL,且其孕期临床表现、产后随访均未见明显神经系统异常。文献复习未见有关CNV‐seq技术应用于巨细胞病毒感染的检测,仅有对已确诊患者进行CMV‐DNA的基因组分析的文献报道。结论:CNV‐seq可用于巨细胞病毒载量的检测,其病毒载量对胎儿的结局可能具有一定程度的预判价值。CNV‐seq可同时检测胎儿染色体及病原微生物,对于出生缺陷防控有着重要意义。Objective:To summarize the application value of copy number variant sequencing(CNV‐seq)in the detection of fetal chromosome and cytomegalovirus load.Methods:The study analyzed the clinical basic data,relevant laboratory tests,treatment process,and outcomes of three patients with positive cytomegalovirus load detected by CNV‐seq for fetal chromosomes and cytomegalovirus load,and literature review was done simutaneoubly.Results:In all three cases,the amniotic fluid cytomegalovirus load was less than 105 Copies/ml,and there were no significant neurological abnormalities observed during pregnancy or postpartum follow‐up.There is no literature review on the application of CNV‐seq technology in the detection of cytomegalovirus infection,only literature reports on genome analysis of CMV‐DNA in confirmed patients were available.Conclusion:CNV‐seq can be used to detect cytomegalovirus load,which may have a certain degree of predictive value for fetal outcome.CNV‐seq can si‐multaneously detect fetal chromosomes and pathogenic microorganisms,which is of great significance for the prevention and con‐trol of birth defects.

关 键 词：基因组拷贝数变异测序 胎儿 巨细胞病毒载量检测 

分 类 号：R714.5[医药卫生—妇产科学]