Foetal echocardiographic assessment of tetralogy of Fallot and post-natal outcome

Aims Outcome of foetuses diagnosed with tetralogy of Fallot (TOF) or pulmonary atresia with ventricular septal defect (PA-VSD) and the reliability of foetal echocardiography to predict post-natal surgical outcome. Methods and results Outcome of 218 foetuses having been diagnosed with TOF (n = 153) or PA-VSD (n = 65) was reviewed. Abnormal karyotyping, 22q11 deletion, and extracardiac anomalies were found, respectively, in 11, 18, and 46%. Pregnancy was terminated in 75 cases (34%), and in three cases foetuses died in utero. Presence or absence and confluence of PA branches were confirmed after birth or pregnancy termination in all but five (5%) cases. Main pulmonary trunk (MPA) was incorrectly described in 11 (10%) cases and major aorto-pulmonary collateral arteries in 16 (13%) cases. Among live born infants, 110 (88%) were operated and 92 (74%) underwent complete repair in the first year of life. Size of confluent PAs and presence of MPA were related to the probability of having a complete repair in the first year of life. Conclusion Foetal diagnosis of TOF and PA-VSD has a major impact on pregnancy outcome, as associated anomalies are frequently found. Pre-natally determined size of PA branches and presence of MPA are good predictors of complete repair in the first year of life.