Berry综合征的产前超声心动图及病理解剖诊断研究

The diagnosis of Berry syndrome by prenatal echocardiography and postmortem pathology

目的探讨Berry综合征产前超声心动图及病理解剖异常特征。方法对2012年8月至2015年10月在广西壮族自治区妇幼保健院产前超声诊断的3例Berry综合征胎儿声像图特征进行分析,结合文献对引产后胎儿标本心脏解剖异常所见与产前超声心动图特点进行对照研究。结果 3例Berry综合征均因三血管气管观(3VT)首先发现主动脉弓异常和主动脉弓缩窄1例,主动脉弓离断2例。三血管肺动脉分支观(3VP)均显示主-肺动脉间隔远端缺损,右肺动脉起源于升主动脉,左肺动脉起源于主肺动脉,在此切面上升主动脉、主肺动脉、左肺动脉及右肺动脉可呈"羊角征"特征性声像改变;彩色多普勒显示主-肺动脉间隔缺损处均可测及主动脉至肺动脉分流信号。2例胎儿产前超声心动图诊断与引产标本心脏解剖病理诊断结果相符合,1例胎儿引产后未行病理解剖检查。结论 Berry综合征在三血管肺动脉分支具有特征性声像表现,三血管肺动脉分支观结合三血管气管观可对Berry综合征进行诊断。

Objective To investigate the prenatal features of Berry syndrome by fetal echocardiography and pathological anatomy. Methods In this study, three cases were identified as Berry syndrome by fetal echocardiography from August 2012 to October 2015 in our hospital. Echocardiographic characteristics of Berry syndrome were compared with autopsy findings. Results Three cases suggested the presence of coarctation in one case and interruption in two cases from the aortic isthmus in three vessels and trachea view（3VT）. The most typical findings were aorta-pulmonary distal septal defect, aortic origin from right pulmonary artery and main pulmonary artery origin from left pulmonary artery in three vessels and pulmonary arterial branches view（3VP）. The 3VT suggested the presence of interruption or coarctation of the aortic isthmus. Three cases showed that the ascending aorta, main pulmonary artery, left pulmonary artery, and right pulmonary artery were present as a vascular complex and were ram horn-shaped in 3VP. Color Doppler showed the ascending aorta to the main pulmonary artery shunt across the aorto-pulmonary window. Two cases（2/3） were confirmed by autopsy examinations, one case refused pathological autopsy. Conclusions The fetal Berry syndrome can be prenatally diagnosed by showing the characteristics in 3VP and 3VT.