目的:对1例疑诊为Cornelia de Lange综合征的引产儿及其亲代进行基因检测，为遗传咨询和产前诊断提供依据。方法:详细询问妊娠史及家族史，结合孕期影像学检查及引产儿表型做出临床诊断。收集引产儿组织及其亲代的静脉血样，提取基因组DNA，进行全外显子组测序分析，筛查与表型相关的变异位点，并通过Sanger测序进行验证。结果:孕期超声提示胎儿前臂及手形态异常、小脑蚓部发育不良、下颌偏小、双肾实质回声增强，引产后可见上肢及面部畸形。全外显子组测序提示胎儿携带n NIPBL基因c.2118delG(p.Lys706fs)杂合移码变异，其父母未检出相同变异。n 结论:NIPBL基因c.2118delG杂合移码变异可能是胎儿的致病原因。上述结果可为家系遗传咨询及指导再生育提供依据。n “,”Objective:To carry out genetic testing for an abortus suspected with Cornelia de Lange syndrome (CdLS).Methods:History of gestation and the family was taken. Combined with prenatal ultrasonography and the phenotype of the abortus, a diagnosis was made for the proband. Fetal tissue and peripheral blood samples of its parents were collected for the extraction of genomic DNA. Whole exome sequencing was carried out to detect mutations related to the phenotype. Suspected mutations were verified in the parents through Sanger sequencing.Results:Prenatal ultrasound found that the forearms and hands of the fetus were anomalous, in addition with poorly formed vermis cerebellum, slight micrognathia, and increased echo of bilateral renal parenchyma. Examination of the abortus has noted upper limb and facial malformations. Whole exome sequencing revealed that the fetus carried a heterozygous c. 2118delG (p.Lys706fs) frameshift mutation of the n NIPBL gene. The same mutation was not found in either parent.n Conclusion:The heterozygous c. 2118delG (p.Lys706fs) frameshift mutation of the n NIPBL gene probably underlies the CdLS in the fetus. Above finding has provided a basis for the genetic counseling for the family.n