Congenital diaphragmatic hernia: pathogenesis, prenatal diagnosis and management — literature review

Abstract

Congenital diaphragmatic hernia (CDH) is a developmental discontinuity of the diaphragm. It allows abdominal viscera to herniate into the chest and leads to lung hypoplasia. Congenital diaphragmatic hernia is one of the most severe birth defects, with extremely high neonatal mortality. This paper presents a review of the available literature on prenatal diagnosis, management and treatment options for CDH. In selected cases, a prenatal procedure to improve neonatal survival is possible. The authors of this manuscript believe their work might contribute to a better understanding of congenital diaphragmatic hernia and patient selection for the FETO (fetal endoscopic tracheal occlusion) surgery or expectant management.

Perfil epidemiológico e avaliação da atenção pré e pós-natal nos pacientes portadores de hérnia diafragmática congênita

“…As taxas de mortalidade e morbidade continuam altas apesar dos cuidados modernos e intensivos 14 . Entretanto, ao longo dos anos, devido ao avanço no diagnóstico pré-natal, a uma maior disponibilidade de aconselhamento familiar e na possibilidade de tratamento da HDC grave antes do nascimento estamos visualizando uma maior sobrevivência nos fetos portadores de HDC.…”

Laparoscopic Repair of Bilateral Congenital Diaphragmatic Hernia Without Pulmonary Hypoplasia

“…The pleuroperitoneal folds fuse with the septum transversum, and the esophageal mesentery and muscular ingrowth from the body wall invade the folds, forming the muscular part of the diaphragm. If any of these parts do not fuse correctly, a hernia may form [2,4].…”

“…Congenital diaphragmatic hernias (CDHs) are rare congenital anomalies of the diaphragm with an incidence of approximately 1:2,500 births [3][4][5][6][7][8]. CDHs are classified into two groups based on the anatomic position of the defect: posterolateral or anterior/central [3].…”

“…The posterolateral (Bochdalek) occurs in 70%-75% of cases. These hernias are most commonly found on the left (85%), but they may also be on the right (13%) or even bilaterally (2%) [1,3,4].…”

“…Classically, it was believed that the initial defect was in the diaphragm and then once the abdominal organs herniated into the thoracic cavity, the lungs failed to develop properly. The pulmonary hypoplasia and abnormal pulmonary vascular development was thus deemed as the second defect [1,4]. However, the introduction of the nitrofen animal model for CDH by Keijzer et al has led to a new 'dual-hit' hypothesis [5].…”