LAUSR

BACKGROUND Tetralogy of Fallot (TOF) is a common congenital heart disease, however very heterogenous in terms of detailed cardiac anatomy, associated malformations and genetic anomalies, especially when assessed prenatally. AIMS Our aim was to analyze the clinical spectrum of TOF in the prenatal period, including detailed cardiac morphology, coexisting anomalies, and their impact on short-term neonatal outcome. We also assessed changing trends in the prenatal diagnostic workup of TOF. METHODS A retrospective cohort study including fetuses diagnosed with TOF between 2002-2019 was conducted in a tertiary Fetal Cardiology Center. Medical records and echocardiographic examinations were reviewed to collect demographic, sonographic and genetic data. RESULTS Among 326 TOF fetuses, 237 (73%) had pulmonary stenosis (TOF-PS), 72 (22%) pulmonary atresia (TOF-PA), and 17 (5%) absent pulmonary valve (TOF-APV). The yearly number of diagnoses increased during the study period, with decreasing fetal age at the time of diagnosis. Extracardiac malformations were found in 172 (53%) fetuses, cardiovascular malformations in 159 (49%), and genetic anomalies in 99 (39% of tested group). Hypoplastic thymus, right aortic arch and polyhydramnios were sonographic markers of microdeletion 22q11. Left-to-right ductal flow was predictive of postnatal ductal dependency. Perinatal outcome was dependent on the presence of associated anomalies and disease subtype, with TOF-APV having the worst prognosis. CONCLUSIONS Extracardiac and genetic anomalies are common in fetuses with TOF, and together with disease subtype and ductal flow assessment impact the perinatal management and outcome. Genetic testing with array comparative genomic hybridization should be offered in all cases.