Prenatal diagnosis of bilateral pulmonary agenesis: a case report

Abstract

We report a case of bilateral pulmonary agenesis (BPA), which was suspected during a prenatal US examination and diagnosed by fetal magnetic resonance imaging (MRI). BPA is an extremely rare congenital anomaly and, although many fetal structural defects can be detected with a high degree of confidence after introducing high-resolution US, the prenatal diagnosis of BPA remains problematic. Other thoracic abnormalities, such as a congenital diaphragmatic hernia, congenital cystic adenomatoid malformation, and pulmonary sequestration, should be excluded from the list of possible diagnoses before coming to the conclusion of BPA, because BPA is absolutely incompatible with extrauterine life, and an accurate internal diagnosis can prevent a futile intervention from being performed.

Keywords: Bilateral pulmonary agenesis; Lung, development; Magnetic resonance (MR); Ultrasonography.

Fig. 1

Bilateral pulmonary agenesis. A. Ultrasound examinations at 31 + 2 weeks of gestation show collapsed thoracic cavity with diaphragmatic eventration. Intact diaphragm (arrow) was noted between elevated liver and narrow thoracic cavity. Right diaphragm was more displaced cephalad than left diaphragm. As result, heart and liver are shown on same plane as axial view. B. Fetal MRI study on sagittal and coronal views at 35 + 2 weeks of gestation demonstrates decreased volume of thoracic cage, associated with bilateral elevation of diaphragm without any defect. Abruptly ending trachea (arrow) is noted. C. Postmortem infantogram shows bell-shaped thoracic cage with diaphragmatic eventration. D. On autopsy findings of thoracic cavity, there are no other structures except for heart, vessels (including aorta), and bilateral masses of fat tissue.