P046: Early prenatal diagnosis of isolated unilateral pulmonary agenesis

Abstract

Unilateral pulmonary agenesis is a very rare developmental malformation of the lung. We describe a case with early prenatal diagnosis. A 30-year-old woman, gravida 2 para 1, was referred to our center for prenatal care because previous offspring had a severe psychomotor delay due to partial agenesis of the corpus callosum. First scan performed at 14 weeks revealed normal fetal biometry, normal lung tissue on the right side and no parenchymatous tissue on the left side, causing heart and mediastinal shift towards the left. Although a mild cardiomegaly was noted, the anatomy and function of the heart were within normal limits. No other abnormalities were observed. Amniocentesis revealed normal karyotype. In follow-up scans normal fetal growth was observed and the main abnormalities detected remained unchanged. A 3000 g male infant was born at 38 weeks. The newborn developed a mild respiratory distress but no ventilation support was required. Clinical examinations supported the prenatal diagnosis that was confirmed by chest radiograph. Echocardiography revealed hypoplasia of the left pulmonary artery. Patient was discharged to home at 7 days of life. According to literature review, this is the earliest prenatal diagnosis of isolated unilateral pulmonary agenesis. This malformation can occur as an isolated anomaly, but it is often associated with other anomalies. A favourable outcome can be expected in isolated cases.