IS Case 412: Congenital diaphragmatic hernia
Imaging Sciences URMC 2010
Publication Date: 2010-08-27
On fetal ultrasound fetus was shown to have a congenital diaphragmatic hernia. MRI was requested for further evaluation and coronal and sagittal MR images of the fetus showed bowel within the left thorax.
Congenital diaphragmatic hernia occurs in approximately 1 in 2400 live births in the United States each year. The three basic types of congenital diaphragmatic hernia are the posterolateral Bochdalek, anterior Morgagni and the hiatus hernia. A left-sided hernia allows herniation of both small and large bowel and intraabdominal solid organs into the thoracic cavity. In right-sided hernias, only the liver and a portion of the large bowel tend to herniate. Bilateral hernia are uncommon and are usually fatal. Herniation of abdominal contents into the thoracic cavity leads to pulmonary hypoplasia, pulmonary vasculature hypoplasia resulting in pulmonary hypertension and ultimately postnatal respiratory failure.
The two most promising prognostic indicators appear to be presence or absence of liver herniation into the chest across the diaphragmatic defect and sonographic measurement of the lung-to-head ratio (LHR). One study found 93% survival in the liver-down group versus 43% survival in the liver-up group. A LHR of less than 1.0 is associated with 100% mortality. LHR > 1.4 is associated with no mortality. LHR between 1.0 and 1.4 is associated with 60% mortality.
Fetuses with liver herniation into the chest and low LHR have a poor prognosis. This subset of patients may benefit from in utero intervention. Although there is no role for open fetal repair of the diaphragmatic defect, fetoscopic temporary tracheal occlusion may improve lung growth and decreased morbidity and mortality in these patients.
Postnatal treatment is focused on optimizing oxygenation while avoiding barotrauma.
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