Skip to Main Content

We have a new app!

Take the Access library with you wherever you go—easy access to books, videos, images, podcasts, personalized features, and more.

Download the Access App here: iOS and Android


Failure of complete formation of the diaphragm characterized by pulmonary hypoplasia due to intrauterine compression of the developing lungs by herniated viscera


  • Incidence is 1000 per year (1 in 2000 to 1 in 5000 live births); female:male = 2:1

  • 7–10% gestations end in fetal death

  • Defects more common on left side (about 80%)

  • Associated anomalies (10–35%) include central nervous system (CNS) lesions, tracheobronchial abnormalities, omphalocele, cardiovascular (CV) lesions, skeletal malformations and syndromes (trisomy 13, 18, 21, Beckwith–Wiedemann, Brachmann–de Lange, and Pallister–Killian, among others)


  • Unknown currently, though several pharmacologic and environmental factors have been implicated, including a possible role for vitamin A deficiency and/or retinoid-regulated gene defects

  • Embryologic theory: Lack of closure of the posterolateral pleuroperitoneal canals in the 8th week of gestation fails to separate the thoracic and abdominal cavities.

  • Portions of the diaphragm and pulmonary parenchyma arise from thoracic mesenchyme; if disrupted, this may lead to absence of part of hemidiaphragm and pulmonary hypoplasia.

  • Most cases are sporadic; familial cases occur (2%)

Differential Diagnosis

  • Cystic adenomatoid malformation, cystic teratoma, pulmonary sequestration, bronchogenic cyst, neurogenic tumors, primary lung sarcoma, diaphragmatic eventration


  • Herniation of abdominal contents into thoracic cavity through posterolateral foramen of Bochdalek

  • The diaphragmatic defect may be small or may include entire hemidiaphragm (diaphragmatic agenesis).

  • The pulmonary vasculature has increased muscularization of pulmonary arterioles and decreased branching of vessels resulting in pulmonary hypertension

  • The lungs are hypoplastic owing to chronic compression, with decreased numbers of bronchial branches on both the ipsilateral and contralateral sides.

Clinical Manifestations

  • Most patients present with respiratory distress within the first hours of life secondary to severe pulmonary hypoplasia and associated pulmonary hypertension.

  • 10–20% may have a delayed presentation characterized by less severe pulmonary hypoplasia and pulmonary hypertension, as well as gastrointestinal (GI) symptoms (e.g., vomiting, abdominal pain, constipation)

  • Pneumothorax

  • On exam: Absence of breath sounds; bowel sounds in chest; scaphoid abdomen; increased anteroposterior diameter of chest; shifted heart sounds


  • Prenatal ultrasound able to detect defect as early as 11th week, mean gestational age at diagnosis is 24 weeks; accuracy has been reported to be between 40 and 90%.

  • Antenatal diagnosis is associated with more severe defects and a worse prognosis; if diagnosed by ultrasound, fetal magnetic resonance imaging (MRI) should be performed.

  • During the fetal period, a lung–head ratio (area of contralateral lung to fetal head circumference on ultrasonography) of <1 indicates severe disease.

  • Observed-to-expected lung–head ratio (O/E LHR) accounts for changes in LHR with gestational age, and O/E LHR <25% suggests severe CDH

  • Echocardiography and amniocentesis to detect other anomalies


Initial Medical Management

  • Initial ...

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.