History and Physical Examination

Antenatal

The diagnosis of congenital diaphragmatic hernia (CDH) is frequently made antenatally prior to 25 weeks' gestation. CDH is usually detected in the antenatal period (46-97%), depending on the use of level II ultrasonography (US) techniques (see Workup).

Postnatal

History and clinical findings vary with the presence of associated anomalies and the degree of pulmonary hypoplasia and visceral herniation. In the infant presenting in the neonatal period without antenatal diagnosis, variable respiratory distress and cyanosis, feeding intolerance, and tachycardia are noted. In the physical examination, the abdomen is scaphoid if significant visceral herniation is present (see the image below). Upon auscultation, breath sounds are diminished, bowel sounds may be heard in the chest, and heart sounds are distant or displaced.

Photograph of a one-day-old infant with congenital diaphragmatic hernia. Note the scaphoid abdomen. This occurs if significant visceral herniation into the chest is present.

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Late presentation

Patients may present outside of the neonatal period with respiratory symptoms, intestinal obstruction, bowel ischemia, and necrosis following volvulus.

Complications

Associated anomalies are present in 10-50% of patients with CDH; patients with these anomalies have a twofold relative risk of mortality when compared with patients with isolated CDHs.^[21]Frequently associated anomalies include cardiac defects, chromosomal anomalies (ie. trisomies 21, 18, and 13), renal anomalies, genital anomalies, and neural tube defects.

Workup

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Media Gallery

Graph illustrating the concept of the hidden mortality of congenital diaphragmatic hernia. Image courtesy of Michael Harrison, MD.
Photograph of a one-day-old infant with congenital diaphragmatic hernia. Note the scaphoid abdomen. This occurs if significant visceral herniation into the chest is present.
Radiograph of an infant with congenital diaphragmatic hernia. Note shift of the mediastinum to the right, air-filled bowel in the left chest, and the position of the orogastric tube.
Newborn baby with congenital diaphragmatic hernia on venoarterial extracorporeal membrane oxygenation (ECMO). Note the arterial and venous cannulas connected to the bedside cardiovascular bypass machine.
Diagram illustrating the sheep model of PLUG, the trachea used for the fetal management of congenital diaphragmatic hernia. Image courtesy of Michael Harrison, MD.