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Key Concepts

  • Epidemiology

    • Congenital pulmonary anomalies include a multitude of clinical entities linked by a common developmental lineage. The prevalence is dependent upon the particular malformation. These anomalies represent different variations of shared embryologic pathways and therefore possess clinical similarities and occasionally present simultaneously.

  • Pathophysiology

    • Physiologically, the impact of these lesions, which can be mild or detrimental, depends largely on two factors—pulmonary hypoplasia and fetal hydrops. The mass effect of fetal intrathoracic lesions can impair lung development and decrease cardiac output secondary to mediastinal shift, causing fetal demise or severe compromise. Lesions that replace functional lung parenchyma can also cause pulmonary insufficiency.

  • Clinical features

    • Many congenital pulmonary anomalies present postnatally with frequent pulmonary infections, respiratory distress, and hemoptysis, although others are discovered incidentally on plain chest radiography. Diagnoses of congenital pulmonary malformations are now typically detected with prenatal surveillance imaging.

  • Diagnostics

    • Prenatal ultrasound is the primary diagnostic modality whereby congenital pulmonary anomalies are identified in utero and the degree of hydrops is assessed. Postnatally, computed tomography or magnetic resonance imaging can be used to differentiate lesions based on anatomic characteristics; but since surgical resection is the treatment for most mass lesions, additional imaging is of value to ensure the prenatal lesion has not regressed.

  • Treatment

    • Resection often is curative for focal lesions, but outcome is ultimately dependent on residual pulmonary function and associated medical conditions. Fetal intervention is being offered as an alternative for some congenital pulmonary anomalies, although outcomes have been mixed.

  • Outcomes

    • Outcomes depend on the particular disease process. Generally, excellent survival rates are noted with timely treatment of bronchogenic cysts, pulmonary sequestration, and congenital lobar emphysema. A large percentage of congenital pulmonary adenomatoid malformations postnatally do regress. The prognoses of other entities are adversely affected by the presence of fetal hydrops prenatally or the association of recurrent infections or malignant risk in some of the anomalies.


Congenital lung malformations represent a diverse spectrum of developmental defects. A high index of suspicion for these relatively rare malformations is essential in evaluating a thoracic lesion in a child. The clinical presentation is variable, presenting as respiratory distress in a newborn or remaining asymptomatic until adolescence or even adulthood. The revolution in prenatal imaging, with the ubiquity of antenatal ultrasound, has enabled earlier and more frequent detection of pulmonary anomalies: The most commonly identified prenatal pulmonary anomaly remains the cystic lung lesion with an estimated incidence of 1 in 8300 to 35,000 births.1,2 Prenatal characteristics such as the presence and size of cysts, lung echogenicity, anatomic location, vascular supply, and associated pathophysiology including hydrops and mediastinal shift can characterize a lung lesion (see Table 4-1). Since congenital lung lesions vary in behavior from regression to causing fetal demise, the prognosis of a prenatally detected lesion is not always evident. Advances in prenatal imaging have been quintessential in defining the criteria for early therapeutic intervention in lesions adversely affecting fetal ...

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