Abstract：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.
栾泽东 张晓平 邹艳丽 王晓燕 刘亚琴 李松洋 王好玲. 22q11.2微缺失综合征胎儿产前超声诊断学特征并文献复习[J]. 中华诊断学电子杂志, 2020, 8(1): 32-36.
Luan Zedong, Zhang Xiaoping, Zou Yanli, Wang Xiaoyan, Liu Yaqin, Li Songyang, Wang Haoling. Prenatal ultrasonic diagnostic features analysis and literature review of 22q11.2 microdeletion syndrome. zhzdx, 2020, 8(1): 32-36.
