PRENATAL DIAGNOSIS OF CONGENITAL ANOMALIES

先天性异常的产前诊断

• 批准号: 5203392
• 负责人: R ROMERO
• 金额: --
• 依托单位: EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/5203392
• 关键词: cardiovascular disorder diagnosis; congenital disorders; cystoscopy; diagnosis design /evaluation; diagnosis quality /standard; embryo /fetus; embryo /fetus surgery; endoscopy; hemodynamics; human pregnant subject; noninvasive diagnosis; portal vein; prenatal diagnosis; ultrasonography; ultrasound blood flow measurement

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.

该项目的重点是提高诊断和治疗 胎儿疾病 重点放在产前诊断的先天性 使用非侵入性方法的异常（例如，高分辨率超声， 彩色多普勒血流图）和有创方法。 该分支率先在 胎儿梗阻性尿路病的鉴别诊断。 胎儿 下尿路梗阻的超声表现是诊断性的， 治疗挑战 单靠超声成像不能确定 梗阻的原因和经皮膀胱羊膜穿刺治疗- 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 胎儿膀胱和可视化膀胱颈和输尿管口。 11例胎儿膀胱镜检查成功。输尿管网 在两个胎儿中观察到。 一根导管从胎儿膀胱插入 2例羊膜腔阻塞。 输尿管 用柔性导管探测足以治疗阻塞 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 在胎儿医学和外科领域。 高分辨率超声用于建立产前诊断 心血管系统先天性异常的可能性 彩色多普勒血流 定位提高了产前诊断的准确性， 只能通过灰阶超声检查怀疑的情况。 在过去的一年里，分支的调查人员报告了第一个 诊断门静脉左右两侧发育不全。 分支 还描述了一种用于识别 彩色多普勒超声辅助下的主动脉缩窄。 胎儿循环的彩色血流图研究允许 鉴别导管内血流逆转的胎儿 静脉。 这种情况的患病率为2.4%， 发生在所有5个胎儿的舒张期血流逆转的导管 静脉。 血流逆转的血流动力学机制 似乎增加了左心房和舒张期心脏的压力 失败