PRENATAL DIAGNOSIS OF CONGENITAL ANOMALIES

先天性异常是美国围产期死亡的第二大原因，仅次于早产。成像技术的进步已经允许在出生前用超声波检测许多解剖缺陷。该项目的目的是提高胎儿疾病和先天性异常的诊断和治疗。围产期研究处启动了一个项目，利用三维超声来描绘正常胎儿的解剖结构，改进先天性异常的检测和胎儿体重和生长的估计。该处已获得启动该项目的技术和设备。这种技术的诊断能力体现在对前置血管的改进检测上，前置血管是一种罕见但可能致命的疾病。这种情况的特点是存在异常的胎儿血管在胎膜内靠近子宫颈。当胎膜破裂（自发或人为）时，前置血管患者可能会造成胎儿血管撕裂，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。该分支已经能够使用灰度多平面和“飞行路径”技术对两个病例进行诊断。我们期望三维超声能够提高许多其他先天性异常的产前诊断精度。

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.