Antenatal management of isolated congenital diaphragmatic hernia today and tomorrow: ongoing collaborative research and development. Journal of Pediatric Surgery Lecture

Abstract

The diagnosis of congenital diaphragmatic hernia should be made prenatally in virtually all cases where routine maternal ultrasonography is available. At that time, the prognosis can be predicted based on whether it is isolated and assessment of lung size and/or the position of the liver. Prenatal intervention may be offered in those selected fetuses that have a predicted poor outcome. The aim of this procedure is to reverse the key determinant of survival-pulmonary hypoplasia. Percutaneous fetal endoscopic tracheal occlusion by a balloon is a minimally invasive procedure that has been shown safe and yields a 50% survival rate in severe cases. The outcome can be predicted by the gestational age at birth, the lung size before and after balloon placement, and whether the balloon has been removed prenatally. Currently, the added value of prenatal intervention is being investigated in the Tracheal Occlusion To Accelerate Lung Growth trial ((TOTAL); a European and North American collaboration). Future developments may include better prediction of outcome by more complex algorithms reflecting combinations of prenatal predictors, gene expression profiling to reflect lung development and response to tracheal occlusion, and alternative prenatal strategies for salvaging the worst cases. Fetuses with severe hypoplasia usually require postnatal operative repair using prosthetic patches, and tissue engineering offers the potential for ex utero culture.