基因组光学图谱技术在产前诊断中的应用  

Optical genome mapping in prenatal diagnosis:feasibility and efficacy

作　　者：许伊云 张沁欣 季修庆[1] 周冉[1] 罗春玉[1] 王艳[1] 孟露露[1] 胡平[1] 许争峰[1] XU Yiyun;ZHANG Qinxin;JI Xiuqing;ZHOU Ran;LUO Chunyu;WANG Yan;MENG Lulu;HU Ping;XU Zhengfeng(Prenatal diagnostic center,Maternity Hospital Affiliated to Nanjing Medical University,Nanjing,210004,Jiangsu,China)

机构地区：[1]南京医科大学附属妇产医院产前诊断中心,南京210004

出　　处：《临床检验杂志》2023年第7期481-485,共5页Chinese Journal of Clinical Laboratory Science

摘　　要：目的探讨基因组光学图谱技术(optical genome mapping,OGM)应用于产前诊断的可行性及临床应用价值。方法收集2022年6月至8月因超声软指标异常或结构畸形于南京市妇幼保健院行羊膜腔穿刺的病例60例,常规进行染色体微阵列分析(chromosomal microarray analysis,CMA)联合核型分析,平行进行OGM检测。以CMA联合核型分析的结果为对比,分析OGM在各类染色体变异中的检测效能。对于OGM额外检出的隐匿性重排使用荧光原位杂交验证。结果OGM与CMA联合核型分析在非整倍体、拷贝数变异、三倍体检测中的检出率差异无统计学意义(P<0.05)。OGM检测证实了6例存在染色体微重复的病例,确定了重复插入的位置及方向;额外检出了2例(3.3%)隐匿性易位,并确定了断裂点所处区间。结论OGM能以高分辨率一站式检测各种主要类型的结构变异并可明确重排模式及精细化断点,有望在产前诊断中成为CMA联合核型分析的可靠替代方案。Objective This study aimed to evaluate the feasibility and efficacy of optical genome mapping(OGM)in prenatal diagnosis.Methods A total of 60 cases who underwent amniocentesis in the Maternity Hospital of Nanjing Medical University from June to August 2022 because of abnormal soft markers of ultrasonic examination record or fetal structural malformation were recruited.Chromosomal microarray analysis(CMA)combined karyotyping was performed routinely,and OGM was conducted in parallel.The results of CMA combined karyotype analysis were compared to analyze the efficacy of OGM in detecting various chromosome variants.The cryptic balanced chromosomal rearrangements additionally detected by OGM were validated by fluorescence in situ hybridization(FISH).Results There was no significant difference in the detectable rate of aneuploid,copy number variation and triploid by combined analysis with OGM and CMA for karyotyping(P<0.05).The position and direction of repeated insertion were determined by OGM in 6 cases with chromosome microduplication,and the interval of the break point was determined.The location and orientation of repeated insertion were determined in the 6 cases with chromosome microduplication detected by OGM.The cryptic translocations were additionally detected in 2 cases(3.3%)and refined the located region of the breakpoints.Conclusion OGM is a comprehensive technology that can detect all the major classes of structural variations in single assay with high resolution,and determine the rearrangement patterns,the orientation of duplications and refine the location of breakpoints,thus OGM has the potential to be an alternative reliable schime to the analysis of CMA combined karyotyping in prenatal diagnosis.

关 键 词：基因组光学图谱技术 产前诊断 结构变异 染色体微阵列分析 

分 类 号：R446[医药卫生—诊断学] R715.5[医药卫生—临床医学]