PRENATAL DIAGNOSIS OF CONGENITAL ANOMALIES

这一项目的重点是改进诊断和治疗 胎儿疾病。重点放在先天性心脏病的产前诊断上 非侵入性方法的异常(例如，高分辨率超声和 彩色多普勒血流图)和侵入性方法。 该分部率先将薄型内窥镜用于 胎儿梗阻性尿路病变的鉴别诊断胎儿患有 下梗阻性尿路病变的超声表现是一种诊断和 治疗挑战。仅靠超声成像不能确定 梗阻的原因及经皮囊羊膜移植的治疗 分流术的并发症发生率为25%。我们插入了一根光纤 内窥镜通过针(或套管针)的管腔放入 胎儿膀胱，并显示膀胱颈和输尿管开口。 11例成功完成胎儿膀胱镜检查。输尿管网状物是 记录在两个胎儿身上。一根导尿管从胎儿的膀胱进入 羊膜腔内处理2例梗阻。输尿管 用可弯曲的导管探查足以治疗梗阻 在其他情况下。这一令人印象深刻的技术成就是一个里程碑 在胎儿医学和外科手术方面。 应用高分辨率超声建立产前诊断。 心血管系统的先天异常。彩色多普勒血流 测绘提高了对其他几种疾病产前诊断的准确性 只有灰阶超声才能怀疑的情况。 在过去一年中，该处调查员报告了第一次 左、右门静脉发育不全的诊断。分支机构 还描述了一种诊断方法，用于识别 彩色多普勒超声辅助下的主动脉缩窄。 对胎儿循环的彩色血流成像研究允许 胎儿导管血流倒置的鉴别 静脉。这种情况的患病率为2.4%，围产期死亡 发生在所有5个胎儿的导管舒张期血流逆转 静脉。血流逆转的血流动力学机制 左房和舒张期心脏压力增加 失败了。

The focus of this project is to improve the diagnosis and treatment of fetal disease. Focus is placed on the prenatal diagnosis of congenital anomalies with non-invasive methods (e.g., high resolution ultrasound and color Doppler flow mapping) and invasive methods. The Branch pioneered the utilization of thin-gauge endoscopy in the differential diagnosis of fetal obstructive uropathy. Fetuses with sonographic findings of lower obstructive uropathy are a diagnostic and therapeutic challenge. Ultrasound imaging alone cannot establish the cause of the obstruction and treatment with percutaneous vesicoamniotic- shunts has a complication rate of 25%. We inserted a fiberoptic endoscope through the lumen of the needle (or trocar) placed into the fetal bladder and visualized the bladder neck and ureteral orifices. Eleven fetal cystoscopies were performed successfully. Ureteral webs were noted in two fetuses. A catheter was passed from the fetal bladder into the amniotic cavity in two cases to treat the obstruction. Ureteral probing with a flexible catheter was sufficient to treat the obstruction in other cases. This impressive technological achievement is a landmark in fetal medicine and surgery. High resolution ultrasound was used to establish the prenatal diagnosis of congenital anomalies in the cardiovascular system. Color Doppler flow mapping has improved the accuracy of prenatal diagnosis of several other conditions which could only be suspected by gray-scale sonography. During the past year, the investigators of the Branch reported the first diagnosis of agenesis of the right and left portal veins. The Branch also described a diagnostic approach for the identification of coarctation of the aorta with the aid of color-flow Doppler ultrasound. Color flow mapping studies of the fetal circulation allowed the identification of fetuses with reversal of blood flow in the ductus venosus. The prevalence of this condition was 2.4% and perinatal death occurred in all 5 fetuses with reversal of diastolic flow in the ductus venosus. The hemodynamic mechanisms responsible for reversal of flow appeared to increase pressure in the left atrium and diastolic heart failure.