PRENATAL DIAGNOSIS OF CONGENITAL ANOMALIES

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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). The most significant contribution of the Branch was the performance of the first successful endoscopic surgical procedure in the human fetus. Transabdominal thin-gauge fetoscopy was used to cystoscopically fulgurate posterior urethral valves in a case of urethral obstruction. This procedure represents a new approach to the treatment of selected fetal congenital anomalies, as well as placental conditions amenable to surgical treatment. The Branch used high resolution ultrasound to establish prenatal diagnosis of conditions heretofore undiagnosed sonographically (e.g. nonrhizomelic chondrodysplasia punctata). Color Doppler flow mapping improved the accuracy of prenatal diagnosis of several other conditions suspected by sonography. The goal of the Branch is to expand the diagnostic and therapeutic indications of embryofetoscopy, as well as the diagnostic capability of high resolution ultrasound and color Doppler flow mapping.