Prenatally diagnosed severe CDH: mortality and morbidity remain high

Early population-based outcomes of infants born with congenital diaphragmatic hernia

“…Only 4% of the entire CDH cohort received ECMO. This is in marked contrast to contemporary study series from ECMO centres across the USA, where ECMO is deployed for over half of all infants with CDH 23. The CDH International Study Group has also reported a wide variation in usage of ECMO, noting that on average 30% of infants received this therapy particularly in high-volume centres 1.…”

Excessive Reversal of Epidermal Growth Factor Receptor and Ephrin Signaling Following Tracheal Occlusion in Rabbit Model of congenital Diaphragmatic Hernia

“…Brian M Varisco, 1 Lourenco Sbragia, 2,3 Jing Chen, 4 Federico Scorletti, 2,3 Rashika Joshi, 1 Hector R Wong, 1 Rebeca Lopes-Figueira, 2,3 Marc Oria, 2,3 and Jose Peiro 2,3 1 Cincinnati Children′s Hospital Medical Center (CCHMC) Division of Critical Care Medicine; 2 CCHMC Division of Pediatric General and Thoracic Surgery; 3 The Center for Fetal, Cellular, and Molecular Therapy (CCHMC); and 4 CCHMC Division of Biomedical Informatics, Cincinnati, Ohio, United States of America Congenital diaphragmatic hernia (CDH) causes severe pulmonary hypoplasia from herniation of abdominal contents into the thorax. Tracheal occlusion (TO) for human CDH improves survival, but morbidity and mortality remain high, and we do not fully understand the cellular pathways and processes most severely impacted by CDH and TO.…”

“…Congenital diaphragmatic hernia (CDH) occurs in approximately 1 in 3,000 births with half of these defects being severe and the majority involving the left diaphragm (1). In CDH, the pleuroperitoneal folds fail to fuse with the central tendon during the eighth week of gestation permitting herniation of abdominal contents into the thorax…”

“…There have been reports of how CDH and TO impact lung matrix synthesis (6)(7)(8)(9), lung epithelial function and surfactant (10)(11)(12)(13) and microvascular development (14)(15)(16), and that tracheal occlusion reverses some of resulting in severe pulmonary hypoplasia (2). Despite optimal medical and surgical care, mortality remains high with survivors experiencing severe restrictive lung disease and significant pulmonary hypertension (1). A logical intervention for CDH is to expand the lungs in utero.…”

PBX transcription factors drive pulmonary vascular adaptation to birth

“…Congenital diaphragmatic hernia (CDH) is a common congenital anomaly that occurs in 1 in 3,500 to 5,000 live births (1,2). Despite improvements in the care of infants with CDH, the mortality rate associated with the disease continues to be 20% in isolated cases and 50% in complex cases (3)(4)(5). The primary cause of the high mortality rate is a lethal combination of pulmonary hypoplasia and pulmonary hypertension (PH) (6,7).…”