CNV-seq产前诊断重度胎儿生长受限的Wolf-Hirschhorn综合征1例  

Prenatal diagnosis of Wolf Hirschhorn syndrome characterized by severe fetal growth restriction in a fetus by CNV-seq

作　　者：刘真真[1] 金华[1] 辛杨[1] 侯菲[1] 陶靖[1] Liu Zhenzhen;Jin Hua;Xin Yang;Hou Fei;Tao Jing(Prenatal Diagnosis Center of Jinan Maternal and Child Care Hospital,Jinan 250001,China)

机构地区：[1]济南市妇幼保健院产前诊断中心,济南250001

出　　处：《国际遗传学杂志》2024年第2期131-135,共5页International Journal of Genetics

基　　金：山东省医药卫生科技发展计划(202105030122)。

摘　　要：目的对1例超声提示重度胎儿生长受限的胎儿行介入性产前诊断及遗传学分析,探讨相关遗传学病因。方法对该孕妇行羊膜腔穿刺术,羊水行染色体核型分析和低深度全基因组拷贝数变异测序(copy number variation sequencing,CNV-seq),同时采取父母外周血行CNV-seq验证来源。结果胎儿羊水染色体核型未见明显异常;CNV-seq检测到其染色体4p16.3-p16.2区域存在至少4.88 Mb拷贝数缺失,涉及Wolf-Hirschhorn综合征,为1类致病突变。父母外周血CNV-seq检测结果未见此缺失,提示胎儿该缺失为新发变异。结论通过CNV-seq明确了1例重度生长受限胎儿为Wolf-Hirschhorn综合征,明确了病因,指导准确的遗传咨询。Objective To explore the genetic etiology of a fetus with fetal growth restriction(FGR).Methods Amniocentesis was performed on the pregnant woman,then the fetal mniotic fluid was analyzed by chromosome karyotype analysis and copy number variation sequencing(CNV-seq).Parent’s peripheral blood cells were collected for CNV-seq to verify the source of variation.Results The chromosome karyotype of the fetus was normal.CNV-seq showed the fetus had carried 4.88 Mb detection at 4p16.3-p16.2 at least,which was involved in Wolf-Hirschhorn syndrome(WHS).This deletion fragment was a pathogenic variant.CNV-seq showed that the parent did not carray this deletion,suggesting the fetal deletion was a new mutation.Conclusion A prenatal diagnosis of WHS syndrome in a fetus with severe FGR was diagnosed by CNV-seq,which has provided guidance for accurate genetic counseling.

关 键 词：Wolf-Hirschhorn综合征 胎儿生长受限 产前诊断 CNV-seq检测 

分 类 号：R445.1[医药卫生—影像医学与核医学] R714.5[医药卫生—诊断学]