Congenital Diaphragmatic Hernia (CDH) Awareness

Congenital diaphragmatic hernia (CDH) is characterized by: 

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(1) incomplete formation/muscularization of the diaphragm resulting in absence or deficiency of the diaphragm, or 
(2) eventration resulting in elevation of a portion of the diaphragm that is thinned as a result of incomplete muscularization. 

Diaphragmatic hernias include posterolateral (Bochdalek) hernias, Morgagni and other anterior hernias, and (rarely) central hernias. About 50%-60% of affected individuals have isolated CDH; the remainder have complex CDH – that is, CDH occurring with additional malformations or as part of a single gene disorder or chromosome abnormality. Infants with CDH often present in the neonatal period with severe respiratory distress; pulmonary hypoplasia is common. Presenting symptoms after infancy can be acute onset of respiratory or gastrointestinal distress or abdominal pain from chronic intestinal obstruction or pleural effusion from entrapment of the bowel in the chest.

CDH Diagnosis and Testing

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Clinical examination of the newborn with CDH often reveals a scaphoid abdomen (since the abdominal contents can be in the thorax), diminished breath sounds ipsilateral to the side of the hernia, and displacement of the heart sounds contralateral to the hernia. A chest x-ray can confirm the diagnosis if bowel gas is visible above the diaphragm accompanied by a mediastinal shift. Congenital diaphragmatic hernia can be detected prenatally by an ultrasound examination performed during the second trimester in most affected infants.

CDH Management

Treatment of manifestations: Newborns with CDH are intubated immediately to avoid bag-mask ventilation and inflation of the bowel that has herniated into the chest; care is taken to minimize barotraumas induced by positive pressure ventilation. Correction of hypercapnea and pre-ductal hypoxemia are focused on assuring adequate end-organ perfusion. Infants with CDH are treated with:

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• minimal sedation and pressure support modes of ventilation; 
• some centers use high-frequency oscillatory ventilation (HFOV)
• Extra-corporeal membrane oxygenation (ECMO) is used in some centers for neonates with critical cardiopulmonary deterioration. 
• The ex-utero intrapartum treatment (EXIT) procedure transitions a newborn directly onto cardiopulmonary bypass when oxygenation and ventilation by intubation and mechanical ventilation are either not expected to be possible, or are likely to exacerbate pulmonary barotrauma. 
• Other therapies that have been introduced in the acute neonatal treatment phase for CDH include nitric oxide (NO), delay of surgical repair, and use of surfactant and perflubron. 
• Fetal surgery has been attempted for severely affected infants but is controversial. 
• Tracheal occlusion is being offered to high-risk fetuses in Europe and in few specialized centers in the United States. 
• Long-term follow-up for infants with CDH is best provided at specialized centers.

The above information is from the National Institute for Health (NIH).  

Read more on the NIH website at http://www.ncbi.nlm.nih.gov/books/NBK1359/

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