Bilateral Pulmonary Agenesis

Abstract

Bilateral pulmonary agenesis (BPA) is a rare pathologic condition characterized by the complete absence of lung tissue. The few cases that have been presented in the literature have emphasized the pathologic features of the condition as seen in gross and microscopic evaluation of the fetus or neonate. This report describes the prenatal sonographic appearance of this rare congenital anomaly. Our report illustrates the need to consider the diagnosis of BPA when a congenital diaphragmatic hernia (CDH) is suspected.

Bilateral Pulmonary Agenesis: A Rare and Unexpected Finding in a Newborn

“…Additional imaging modalities such as magnetic resonance imaging, fetal echocardiogram, and Doppler imaging, in addition to reevaluation at a later gestational age, have shown to be effective in demonstrating the lack of lung parenchyma and pulmonary vasculature. 9 10 11 In our patient, only one ultrasound anatomy scan was mentioned by the mother; no other imaging studies appear to have been done.…”

Prenatal Diagnosis of Bilateral Pulmonary Agenesis: a Case Report

“…Both the lung buds and the encircling splanchnic mesenchyme, originating from the foregut, are crucial for the formation of the airways, vasculature, and lymphatic vessels. BPA results from the failure of lung or bronchial buds to develop and is associated with the absence of pulmonary veins and bilateral pulmonary arteries (2, 5-7). The exact etiology is not well known, although viral infections, genetic factors, and folic acid or vitamin A deficiencies have been suggested as contributing factors (2, 5, 7).…”

“…Color Doppler scans are of great value in detecting the pulmonary vasculature prenatally; even in the first trimester (6). The prenatal differentiation between BPA and other thoracic abnormalities, including congenital diaphragmatic hernia (CDH), congenital cystic adenomatoid malformation (CCAM), and pulmonary sequestration, is clinically important because the management and postnatal outcome are different; however, it is very difficult to do so because of sonographically-similar features, especially when the diaphragm cannot be visualized (2). This is particularly true in CDH cases, where the development of pulmonary blood vessels, as well as the lung parenchyma and airways is normal (8).…”

“…Cardiac abnormalities (coarctation of the aorta, truncus arteriosus, right aortic arch and atrial septal defect [ASD]), as well as pulmonary abnormalities, were also detected in some cases (2). In the case reported herein, a large ASD was identified.…”

“…Dozens of cases associated with complete agenesis of both lungs had been previously reported (1, 2). Although Vettraino et al (2) recently authored a report emphasizing the prenatal sonographic appearance characteristics of bilateral pulmonary agenesis (BPA), most of the previous case reports have focused on the macro- and microscopic pathologic conditions (1). Herein, we report a case of BPA diagnosed prenatally with the aid of high-resolution ultrasonography and a fetal MRI.…”