Congenital diaphragmatic hernia: a case series in tertiary care centre

Congenital diaphragmatic hernia (CDH) is the presence of a defect in the diaphragm that allows the herniation of the abdominal viscera into the thorax. The mortality is the result of persistent pulmonary hypertension and respiratory insufficiency due to abnormal pulmonary vessels and hypoplastic lungs. The incidence of congenital diaphragmatic hernia is 1 in 2500 births. The etiology of congenital diaphragmatic hernia remains unclear. It is thought to be multifactorial with genetic, environmental, and/or nutritional factors playing a role. CDH can be an isolated anomaly or associated with anomalies in other organ systems. The most frequent aneuploidies associated with CDH include trisomy 18, trisomy 13, trisomy 21, and less frequently Turner syndrome (45, X). Exposure to teratogenic agents like mycophenolate mofetil, allopurinol, and lithium during pregnancy is reported to be associated with CDH. Recently, studies indicate disturbances in the retinoid-signaling pathway as a potential cause of CDH. This case series aims to pull importance of a viable protocol for antenatal evaluation of CDH, and meanwhile to underline the importance of a good interdisciplinary antenatal evaluation of these cases for the fetal outcome.