Early prenatal ultrasound diagnosis of congenital thoracic malformations

Objectives: To evaluate and describe the spectrum and rate of congenital thoracic malformations (CTMs) diagnosed by early prenatal sonography (gestational age (GA) less than 16 weeks). Methods: A retrospective, cross-sectional analysis of prenatal ultrasound screening tests in a community-based clinic. Results: In 2001-2017, 31 261 prenatal ultrasound tests detected 31 CTMs at a gestational age of 15.2 (range, 11.6-16.0) weeks. The most common malformation was congenital pleural effusion (CPE) (15 fetuses, 0.48/1000), followed by congenital diaphragmatic hernia (CDH) (10 fetuses, 0.32/1000). Pulmonary hypoplasia (PH), congenital pulmonary airway malformation and broncho-pulmonary sequestration appeared in much smaller proportions (three, two and one fetuses, respectively). Most CTMs were associated with additional fetal lesions (15 fetuses, 48%). All early CDH (10 fetuses) and PH (three fetuses) and 6/15 with CPE had termination of pregnancy or missed abortions. Conclusions: Prenatal ultrasound before 16 GA was able to detect CTMs in 0.99/1000 of screening ultrasound (US) performed. Most CTMs tended to appear with multiple lesions and were associated with unfavorable outcomes. Earlier prenatal diagnosis may enable early termination of pregnancy in fetuses with lethal malformations.