猫叫综合征的产前临床表型分析及诊断

Prenatal clinical phenotype analysis and diagnosis of Cri-du-chat syndrome

目的探讨猫叫综合征(CDCS)胎儿的临床表现及产前诊断策略。方法回顾性分析2015年1月至2022年12月在空军军医大学西京医院进行介入性产前诊断、应用染色体微阵列联合染色体核型分析明确的9例CDCS病例。收集并系统分析纳入本研究的病例孕期血清学筛查、无创DNA筛查、胎儿超声表现、遗传学检测结果及妊娠结局。结果产前诊断CDCS患者9例,其中5例为5号染色体短臂末端单纯性缺失,缺失范围大小为9.04~37.00 Mb;4例除了5号染色体末端的缺失,亦包含其他染色体的大片段重复。2例为无创DNA筛查提示5p-,其余7例均有先天性心脏病的临床表现。电话随访明确9例CDCS胎儿均在产前诊断咨询优生遗传专科医生后引产。结论CDCS与先天性心脏病有一定的相关性,产前诊断CDCS是避免缺陷儿出生的有效手段,分析CDCS的产前临床表现有助于丰富该疾病的产前表型谱。

Objective To investigate the clinical manifestations and prenatal diagnosis strategy of fetuses with Cri-du-chat syndrome(CDCS).Methods A retrospective analysis was performed on 9 cases of CDCS diagnosed by interventional prenatal diagnosis and confirmed by chromosome microarray analysis combined with karyotype analysis in Xijing Hospital,Air Force Medical University from January 2015 to December 2022.The results of serological screening,non-invasive DNA screening,fetal ultrasound findings and genetic testing during pregnancy and pregnancy outcomes of the cases included in this study were collected and systematically analyzed.Results There were 9 patients with CDCS diagnosed before delivery,5 of whom had single deletion at the end of short arm of chromosome 5,and the deletion ranged from 9.04 to 37.00 Mb.In addition to the deletion of the end of chromosome 5,4 cases also contained large fragment duplication of other chromosomes.Non-invasive DNA screening showed 5p-in 2 cases,and the remaining 7 cases showed clinical manifestations of congenital heart disease.Telephone follow-up confirmed that 9 cases of CDCS fetuses were induced after prenatal diagnosis and consultation with eugenics genetics specialist.Conclusion There is a certain correlation between CDCS and congenital heart disease.Prenatal diagnosis of CDCS is an effective means to avoid birth defects.Analysis of prenatal clinical manifestations of CDCS is helpful to enrich the spectrum of prenatal manifestations of the disease.