EP04.21: Tetralogy of Fallot: a series of cases – associations and evolution

Abstract

Tetralogy of Fallot has many forms and is frequently associated with other fetal malformations. The evaluation of this pathology's variants, the structural anomalies associations and the fetal or neonatal evolution are observed on a series of cases. A series of 18 fetuses were diagnosed with tetralogy of Fallot, through a period of 7 years, in a tertiary centre from Romania. The gestational age at the time of the echocardiography ranged between 21 and 38 weeks. An amniocentesis was performed in 7 fetuses, out of which one had Down syndrome, two had DiGeorge syndrome, while the remaining four fetuses had a normal karyotype. In three of the fetuses, the tetralogy of Fallot had an extreme variant: one case had a pulmonary valve atresia with severe hypoplasia of the pulmonary branches and MAPCA's, the other was diagnosed with severe pulmonary valve stenosis and pulmonary branch hypoplasia (DiGeorge syndrome) and one fetus had an absent pulmonary valve. Other structural anomalies associations were described in 8 fetuses: bilateral pyelectasis in two of the cases (one with Down, the other with an absent inferior vena cava), hypoplastic thymus in two of the fetuses (with Down and DiGeorge syndrome), unique kidney in one fetus (absence of the pulmonary valve), one fetus with early IUGR and unique umbilical artery (normal karyotype), one case with polycystic bilateral kidney and 2 cases with LPSVC (one of them with MAPCA's). Out of the 18 fetuses, four underwent an TOP (the cases with Down, early IUGR, bilateral polycystic kidney and absence of the pulmonary valve). A number of 7 pregnancies came back to our clinic, and the 7 newborns underwent a cardiac evaluation, followed by surgical interventions which included a systemic-pulmonary shunt. An additional MAPCA's was diagnosed after birth. In conclusion the associations between tetralogy of Fallot and other structural anomalies are frequent, and the MAPCA's diagnosis can't always be intrauterinally established. This research was partially supported by the Collective Research Grants of the University of Medicine and Pharmacy Tîrgu Mureş, Romania (“The role of mother's genetic determinism in child's obesity correlated with bioimpedance and anthropometric parameters” no.275/4/11.01.2017).