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Pulmonary agenesis is the complete absence of lung tissue, including bronchial tree, lung parenchyma, and supporting vasculatures. [7] The only remaining part is rudimentary bronchus. [ 7 ] Hence, the affected areas lose their function of gas exchange. [ 7 ]
Incidence of congenital malformations associated with tracheal agenesis. Results were obtained from a total of 32 individual case studies. [11]The classic in-utero symptoms of tracheal agenesis are an absence of the trachea leading to congenital high airway obstruction syndrome, [12] [13] lung distention, polyhydramnios, heart malformations, heart displacement and hydrops fetalis.
Medical diagnosis of pulmonary hypoplasia in utero may use imaging, usually ultrasound or MRI. [12] [13] The extent of hypoplasia is a very important prognostic factor. [14]One study of 147 fetuses (49 normal, 98 with abnormalities) found that a simple measurement, the ratio of chest length to trunk length, was a useful predictor of postnatal respiratory distress. [15]
A congenital malformation is a physical anomaly that is deleterious, i.e. a structural defect perceived as a problem. A typical combination of malformations affecting more than one body part is referred to as a malformation syndrome .
Fetal conditions can also cause a mediastinal shift during development. For example, pulmonary hypoplasia is the underdevelopment of a lung due to various etiologies. These include agenesis due to gene mutation, fetal hydrothorax, and congenital diaphragmatic hernia. These conditions lead to incomplete development of lung tissue or hypoplasia.
Since its initial characterization, Potter sequence has been defined into five distinct subclassifications. There are those in the medical and research fields that use the term Potter sequence to specifically refer to only cases of BRA, while other groups use the term to loosely refer to all instances of oligohydramnios and anhydramnios regardless of the specific cause.
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Pulmonary artery agenesis refers to a rare congenital absence of pulmonary artery due to a malformation in the sixth aortic arch. It can occur bilaterally, with both left and right pulmonary arteries being absent, or unilaterally, the absence of either left or right pulmonary artery (UAPA).