摘要
目的探讨基因组拷贝数变异检测(CNV-seq)联合染色体核型分析在评估胎儿心室强光点超声软指标中的临床应用价值。方法收集2017年6月至2020年12月于华中科技大学同济医学院附属同济医院妇产科胎儿系统超声诊断为心室强光点(EIF)的143例孕妇,羊膜腔穿刺术抽取羊水,羊水标本行染色体核型分析和拷贝数变异检测。结果143例心室强光点胎儿羊水标本中,核型分析共检出8例异常结果,异常率为5.59%;CNV-seq共检出8例致病性拷贝数变异(pCNV),异常率5.59%,联合检测共发现9例异常结果,异常率6.29%。心室强光点合并其他单个和多个超声软指标组,染色体异常率分别为8.70%和25.00%,明显高于孤立性心室强光点组(0.00%),差异有统计学意义。心室强光点合并非整倍体筛查高风险时,染色体异常率25.00%,明显高于筛查低风险组(4.58%)。结论孤立性心室强光点不会增加胎儿染色体异常的风险,心室强光点合并其他超声软指标异常或非整倍体筛查高风险时,染色体畸变的风险显著增加。此外,在核型分析的基础上应用CNV-seq能够检测出额外的染色体异常,减少漏诊和出生缺陷的发生。
Objective To investigate the application value of copy number variation combined with chromosome karyotype in clinical assessment of fetal echogenic intracardiac focus ultrasound soft marker. Methods 143 fetuses who were diagnosed as echogenic intracardiac focus by prenatal ultrasound from June 2017 to December 2020 in Tongji Hospital were enrolled. Amniotic fluid samples were extracted for performing chromosomal karyotype analysis and CNV-seq. Results Among the 143 samples, 8 cases were abnormal with karyotyping(5.59%), among which 6 were aneuploidies. 8 pathogenic copy number variants(5.59%) were also detected by CNV-seq, and 9 abnormal cases(6.29%) were found by combination detection. The prevalence of genetic abnormalities with single and multiple ultrasound soft markers anomalies were 8.70% and 25.00%, respectively, which was significantly higher than that of isolated echogenic intracardiac focus group(0.00%), besides,the rate of chromosome abnormality of high-risk group of aneuploidy screening(25.00%) was significantly higher than that of the low-risk group(4.58%), and the differences were statistically significant. Conclusion The isolated echogenic finding does not an increased risk for chromosome abnormality, while the risk of chromosomal anomaly significantly increases in fetuses with other ultrasound soft markers or high risk of aneuploidy screening. In addition, CNV-seq based on traditional karyotype effectively detect additional abnormalities, reducing the occurrence of missed diagnosis and birth defects.
作者
杨肖
边欣怡
石鑫玮
刘海意
邓东锐
曾万江
陈素华
乔福元
冯玲
吴媛媛
YANG Xiao;BIAN Xinyi;SHI Xinwei;LIU Haiyi;DENG Dongrui;ZENG Wanjiang;CHEN Suhua;QIAO Fuyuan;FENG Ling;WU Yuanyuan(Department of Obstetrics and Gynecology,Tongji Hospital,Tongji Medical College of Huazhong University of Science&Technology,Wuhan,Hubei 430030,China)
出处
《中国优生与遗传杂志》
2022年第6期941-945,共5页
Chinese Journal of Birth Health & Heredity
基金
国家重点基础研究计划(973计划)“重大胎儿疾病宫内诊断和治疗新技术研发”项目(2018YFC1002900)的课题四“胎儿骨骼系统发育不良的宫内诊断与干预及预后评估”(2018YFC1002904)。
关键词
拷贝数变异
核型分析
心室强光点
超声软指标
胎儿
copy number variations
karyotype analysis
echogenic intracardiac focus
ultrasound soft marker
fetus
