22q11.2微缺失综合征胎儿的超声特征

目的 通过对22q11.2微缺失综合征胎儿的染色体及胎儿超声特点分析,明确患病胎儿临床表型与基因型间的相关关系。方法 回顾性分析2013年1月1日至2020年10月31日首都医科大学附属北京妇产医院19例产前诊断22q11.2微缺失综合征孕妇的一般情况、产前诊断指征、染色体及超声表现。结果 19例22q11.2微缺失综合征胎儿中,4例是因孕妇血清学筛查异常或外周血胎儿游离DNA筛查异常后产前诊断确诊的,15例是因胎儿超声异常行产前诊断确诊的,其中最常见的胎儿超声表现为右位主动脉弓(8/16)、室间隔缺损(5/16)及法洛氏四联症(5/16)。结论 胎儿超声异常,特别是心血管异常是产前22q11.2微缺失综合征的主要表现,有必要对超声异常胎儿进行以基因拷贝数变异检测为基础的产前诊断。

Ultrasonographic features of fetus with 22q11.2 deletion syndrome

Objective To assess genotype-phenotype correlation of prenatally diagnosed fetal 22q11 deletion syndrome by fetal molecular genetic analysis and fetal ultrasound.Methods In this retrospective study, we analyzed 19 cases of fetus which were diagnosed prenatally as 22q11.2 deletion syndrome from January 1,2013 to October 31, 2020. Their clinical conditions, prenatal diagnosis indications, genotype and phenotypic features were assessed. Results Four cases were performed preatal diagnosis for abnormal plasma screen or non-invasive prenatal scan (NIPT), while 15 cases were for abnormal ultrasound. The most common fetal phenotype were fetal cardiac anomalies, such as right aortic arch(8/16),ventricular septal defects(5/16) and tetralogy of Fallot (5/16). Conclusion Abnormal ultrasound finding, especially cardiovascular anomalies was the main manifestation of the 22q11.2 syndrome. It is recommended to use copy numbers variation as the first line test for fetus with abnormal ultrasound.