Congenital Diaphragmatic Hernia: A Review of Evaluation and Management

Congenital diaphragmatic hernia (CDH) has significant implications for neonatal morbidity and mortality that require multidisciplinary antenatal and post-delivery care.

To describe the current evidence behind the etiology, diagnosis, and management of congenital diaphragmatic hernia, with specific attention to risk stratification, multidisciplinary management strategies, fetal cardiovascular morbidity, genetic evaluation, and surgical management of this condition.

Evidence for this review was acquired through a comprehensive search of PubMed-indexed articles using MeSH terms and text to search for concepts related to "Congenital Diaphragmatic Hernia," "prenatal diagnosis," "genetics," "fetal therapy," "embryology," "extracorporeal life support," "surgical management," "prognosis," and their synonyms.

Neonatal survival and long-term outcomes vary by severity of CDH and are primarily driven by the development of pulmonary hypoplasia. Various factors, including the amount of measurable fetal lung tissue, stomach and liver position, side (right vs. left) of CDH, underlying genetic diagnoses, and concomitant anomalies (especially cardiac) contribute to the prognosis in the setting of prenatally diagnosed CDH. Given the need for multidisciplinary care coordination and anticipated postnatal surgical management, patients identified with a CDH in their fetus should be referred to a tertiary center for antenatal surveillance and delivery.

CDH is associated with high morbidity and mortality; continued attention to prenatal diagnosis and multidisciplinary management of this condition may help improve the quality of life for affected patients.