Prenatal diagnosis and pregnancy outcomes of 149 fetuses with tetralogy of Fallot accompanied by concomitant cardiac and extracardiac anomalies
1Departmentof Perinatal Medicine, ‹stanbul Kanuni Sultan Süleyman Training and Research Hospital, Hamidiye Faculty of Medicine, Health Sciences University, ‹stanbul, Türkiye
2Departmentof Perinatal Medicine, Baflakflehir Çam and Sakura City Hospital, Hamidiye Faculty of Medicine, Health Sciences University, ‹stanbul, Türkiye
3Departmentof Pediatric Cardiology, ‹stanbul Kanuni Sultan Süleyman Training and Research Hospital, Hamidiye Faculty of Medicine, Health Sciences University, ‹stanbul, Türkiye
Abstract
Objective: We aimed to analyze the pregnancy outcomes of cases that were diagnosed prenatally with tetralogy of Fallot (TOF) and to inves- tigate its prenatal diagnosis, treatment conditions, and postnatal outcomes.
Methods: The clinical information data of a total of 149 fetuses diagnosed with TOF (145 cases were singleton and 4 cases were twins) were col- lected and reviewed retrospectively between January 2016 and January 2022 at ‹stanbul Kanuni Sultan Süleyman Training and Research Hospital.
Results: Among completely 61,034 pregnancies between these years, 149 fetuses were diagnosed with TOF by fetal prenatal ultrasound imag- ing with the occurrence rate of about 0.24% (149/61,034), and the average gestational age was 26.13 weeks. Among these cases, 22 cases (14.76%, 22/149) opted for termination of pregnancy. Of these 149 fetuses, a total of 60 (46.30%, 60/149) accepted genetic testing and 11 (7.38%, 11/149) revealed chromosomal disorders with trisomy 21 in 5 cases, trisomy 18 in 1 case, 22q11.2 microdeletion syndrome in 4 cases and abnormality of the short arm of 8th chromosome in 1 case. After delivery, 4 cases were diagnosed with trisomy 21. Pregnancy was continued in a total of 127 fetuses, of which 114 cases resulted in delivery. While 36 cases were delivered by cesarean section, the other 78 cases were delivered vaginally. Thirteen fetuses died during the pregnancy period. Newborns who survived the postpartum period were followed up to 5 years of age for sur- gery. Among 114 cases, 28 cases died during the postnatal period at different times.
Conclusion: The diagnosis of TOF is mainly established with the help of fetal ultrasound in the second trimester. A genetic examination is also necessary after prenatal diagnosis and multidisciplinary work is also important between departments. TOF without genetic disorder can be successfully corrected with surgery after birth.
Keywords: Tetralogy of Fallot, genetic diagnosis, outcomes.
