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Prenatal findings in total anomalous pulmonary venous return: a diagnostic road map starts with obstetric screening views.

OBJECTIVES: Optimal perinatal management of total anomalous pulmonary venous return (TAPVR) involves timely identification followed by surgical correction. Antenatal diagnosis, however, has long been a challenge. We aimed to identify consistent prenatal sonographic features in this condition in a large cohort in whom the diagnosis was made antenatally and confirmed postnatally.

METHODS: We conducted a systematic retrospective review of the 2-dimensional and Doppler sonographic features that had helped make the diagnosis of TAPVR at our institution from 2001 to 2012.

RESULTS: Twenty-six patients had prenatal diagnosis of TAPVR (mean gestational age, 24.1 weeks). Four of the fetuses with a prenatal diagnosis represented isolated cases of TAPVR; 22 had heterotaxy syndrome, additional cardiac abnormalities, or both. Prenatally diagnosed abnormal pulmonary venous connections were supracardiac (type I) in 18 cases, cardiac (type II) in 1, and infradiaphragmatic (type III) in 7. Lack of a visible connection of the pulmonary veins to the atrium (100%) and the presence of a visible venous confluence on axial 4-chamber views (96%) were the most consistent findings. Cardiac asymmetry and the presence of additional vertical venous channels on 3-vessel or axial abdominal views were also noted but less consistently. Abnormal pulmonary venous spectral Doppler findings were present in 25 of the 26 fetuses.

CONCLUSIONS: The diagnosis of TAPVR can be suspected on standard axial views included in second-trimester obstetric screening examinations of the fetal heart and confirmed on fetal echocardiography with the use of pulsed wave Doppler imaging. Clues recognizable on obstetric sonographic screening have the potential to contribute to increasing the diagnostic yield for prenatal detection of TAPVR.

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