Familial Prenatal Total Anomalous Pulmonary Venous Drainage: Genetic Implications and Multimodal Echocardiographic...

We report 2 cases of fetal total anomalous pulmonary venous drainage (TAPVD) diagnosed in subsequent pregnancies in the same patient. In the first pregnancy, supracardiac TAPVD with obstruction at the ascending vein was identified at 20 weeks. Three-dimensional (3D) motion-corrected fetal cardiac magnetic resonance imaging (MRI) aided visualization of the venous pathway and revealed subtle T2-weighted lung heterogeneity, suggesting secondary pulmonary lymphangiectasia. The baby was delivered in cardiac theatres, with surgical repair at 4 hours of life. In a subsequent pregnancy, infracardiac TAPVD was diagnosed at 15 weeks using 3D fetal echocardiography. No pulmonary venous obstruction was present. Third-trimester fetal cardiac MRI confirmed normal lung appearances. Neonatal surgical repair again occurred at 4 hours of age. Genetic testing, including microarray comparative genomic hybridization of the index child and trio whole-genome sequencing of both parents and the index child, identified no causative variants. Familial TAPVD, though rare, should prompt careful fetal echocardiographic screening in subsequent pregnancies. Multimodal imaging with echocardiography and MRI is a useful aid to fetal diagnosis and perinatal planning strategies.