PRENATAL DIAGNOSIS OF CONGENITAL ANOMALIES

在美国，先天畸形是继早产之后导致围产儿死亡的第二大原因。成像技术的进步使超声在出生前就能检测到许多解剖缺陷。该项目的目标是提高胎儿疾病和先天畸形的诊断和治疗水平。围产期研究处发起了一个项目，使用三维超声来描绘正常的胎儿解剖结构，改善对先天性异常的检测，以及对胎儿体重和生长的估计。该处已获得启动该项目所需的技能和设备。这项技术的诊断能力通过改进对Vassa前置通道的检测来说明，Vassa前置通道是一种罕见但可能致命的疾病。这种情况的特点是在靠近宫颈的胎膜内存在异常的胎儿血管。在胎膜破裂时(自发的或人工的)，前置迷走神经的患者可能会导致胎儿血管撕裂，导致胎儿失血和胎儿死亡，或严重贫血和神经障碍。因此，产前诊断至关重要。该处已能够使用灰度级多平面和“飞行路线”技术在两个案例中作出诊断。我们预计，三维超声将提高对许多其他先天性异常的产前诊断的准确性。

Congenital anomalies are the second leading cause of perinatal mortality in the United States after premature birth. Advances in imaging techniques have allowed the detection of many anatomical defects with ultrasound before birth. The goal of this project is to improve the diagnosis and treatment of fetal disease and congenital anomalies. The Perinatology Research Branch has initiated a project to use tri-dimensional ultrasound to delineate normal fetal anatomy, improve the detection of congenital anomalies and the estimation of fetal weight and growth. The Branch has acquired the skills and equipment to initiate the project. The diagnostic power of this technology is illustrated by the improved detection of a vassa previa, a rare but potentially lethal condition. This condition is characterized by the presence of aberrant fetal vessels within the fetal membranes in close proximity to the uterine cervix. At the time of rupture of membranes (spontaneous or artificial), patients with a vassa previa may sustain laceration of the fetal vessels resulting in fetal exsanguination and fetal death or severe anemia and neurologic handicap. Therefore, prenatal diagnosis is critical. The Branch has been able to use grey scale multi-planar and the "flight path" techniques to make the diagnosis in two cases. We expect that tri-dimensional ultrasound would enhance the precision of prenatal diagnosis of many other congenital anomalies.