22q11.2微缺失综合征胎儿产前超声诊断学特征并文献复习

目的探讨22q11.2微缺失综合征胎儿的产前超声诊断学特征。 方法回顾性分析2019年7月29日于莱州市妇幼保健院超声科产前超声检查，并经羊水穿刺及病理解剖证实的1例22q11.2微缺失综合征胎儿的产前超声资料，并文献复习。 结果胎儿心脏超声声像图表现为心轴异常，膜周部室间隔缺损，主动脉增宽，骑跨于室间隔上，肺动脉细窄，主动脉弓位于气管的右侧，头臂动脉呈镜像分布，动脉导管缺如，胸腺发育不良。遗传学检查：22号染色体q11.21处缺失2.58Mb区域。病理解剖证实为法洛四联症、右位主动脉弓伴头臂动脉镜像分支、动脉导管缺如、胸腺发育不良。 结论22q11.2微缺失综合征是常见的基因异常综合征，表型多样，超声检查无创，方法简单易行，可为22q11.2微缺失产前诊断提供影像学依据。

Prenatal ultrasonic diagnostic features analysis and literature review of 22q11.2 microdeletion syndrome

ObjectiveTo investigate the prenatal ultrasonic diagnostic features of 22q11.2 microdeletion syndrome. MethodsThe prenatal ultrasound data of a case of 22q11.2 microdeletion syndrome confirmed by amniocentesis and pathological anatomy in the Department of Ultrasound, Laizhou Maternity & Child Healthcare Hospital on July 29, 2019 were analyzed retrospectively, and the literatures were reviewed. ResultsThe prenatal echocardiography of 22q11.2 microdeletion showed abnormal cardiac axis, perimembranous ventricular septal defect, widened aorta straddling the interventricular septum, constricting pulmonary artery, aortic arch on the right side of trachea, mirror distribution of the brachiocephalic artery, absence of ductus arteriosus and thymus hypoplasia. Genetic examination showed a 2.58Mb deletion at 22q11.21. Pathological anatomy confirmed the diagnosis of Tetralogy of Fallot, right aortic arch with mirror distribution of brachiocephalic artery, absence of ductus arteriosus, and thymus hypoplasia. ConclusionsMicrodeletion of 22q11.2 is a common microdeletion syndrome with various phenotypes. Ultrasonic examination is noninvasive and simple, which can provide imaging evidence for prenatal diagnosis of 22q11.2 microdeletion.