What is the condition where a newborn is born with a congenital diaphragmatic hernia (CDH)?

From the Guidelines

Congenital diaphragmatic hernia (CDH) is the condition where a newborn is born with a hole in the diaphragm. This defect occurs during fetal development when the diaphragm fails to form completely, creating an opening that allows abdominal organs to move into the chest cavity. CDH most commonly appears on the left side (Bochdalek hernia), though it can also occur on the right side or centrally (Morgagni hernia). The condition affects approximately 1 in 2,500 births, as stated in the guidelines from the American Heart Association and American Thoracic Society 1.

Key Characteristics of CDH

• The diaphragmatic defect impairs lung development and function, leading to pulmonary hypoplasia.
• The presence of severe pulmonary hypertension (PH) is a critical determinant of survival in infants with CDH, with a high prevalence (63%) and mortality (45%) 1.
• Treatment requires surgical repair of the diaphragmatic defect, typically performed after the baby is stabilized with respiratory support.

Management and Treatment

• Minimizing peak inspiratory pressure and avoiding large tidal volumes are recommended to reduce ventilator-associated acute lung injury in infants with CDH (Class I; Level of Evidence B) 1.
• High-frequency oscillatory ventilation is a reasonable alternative mode of ventilation for subjects with CDH when poor lung compliance, low volumes, and poor gas exchange complicate the clinical course (Class IIa; Level of Evidence A) 1.
• iNO therapy can be used to improve oxygenation in infants with CDH and severe PH but should be used cautiously in subjects with suspected LV dysfunction (Class IIa; Level of Evidence B) 1.
• ECMO is recommended for CDH patients with severe PH who do not respond to medical therapy (Class I; Level of Evidence B) 1.

Prognosis and Outcome

• The prognosis depends on the severity of lung underdevelopment, with survival rates ranging from 70-90% in modern neonatal intensive care units.
• Longitudinal care in an interdisciplinary pediatric PH program is recommended for infants with CDH who have PH or are at risk of developing late PH (Class I; Level of Evidence B) 1.

From the Research

Condition Description

• The condition where a newborn is born with a hole in the diaphragm is known as Congenital Diaphragmatic Hernia (CDH) 2, 3, 4, 5, 6.

Characteristics of CDH

• CDH is characterized by a defect in the diaphragm, which allows abdominal contents to protrude into the thoracic cavity, interfering with normal lung development 4.
• The defect can range from a small aperture in the posterior muscle rim to complete absence of the diaphragm 4.

Pathophysiology of CDH

• The pathophysiology of CDH involves a combination of lung hypoplasia and immaturity, associated with persistent pulmonary hypertension of the newborn (PPHN) and cardiac dysfunction 4.

Management of CDH

• The management of CDH includes gentle ventilation, hemodynamic monitoring, and treatment of pulmonary hypertension, followed by surgery 4.
• Extracorporeal membrane oxygenation (ECMO) may be considered if conventional treatment fails 3, 5.
• Inhaled nitric oxide (iNO) is also used to improve oxygenation and decrease pulmonary pressure in infants with CDH 6.