Clinical spectrum of antenatal tetralogy of Fallot.

The aim of this study of 44 cases of tetralogy of Fallot was to assess the echocardiographic aspects and the prognosis with respect to associated abno rmalities and the potential evolution in utero. Group I, tetralogy of Fallot with other abnormalities (N= 27 : 2 valvular a genesies, 26.5 5.3 weeks), had genetic anomalies in 18 of the foetus (10 tr isomies including 5 trisomy 21, 5 structural abnormalities including 2 micr odeletions 22q11 in the two cases of valvular agenesis, and one deletion of chromosome 8p23.1, 3 mendelian syndromes) and other abnormalities in 9 cas es. Hypoplasia of the pulmonary artery was present in 60% of cases with a n on-dilated aorta in 72%, infundibular hypertrophy in 33% and 2 evolutions t o pulmonary atresia. Aspect of " isolated " Ventricular septal defect were observed in 20% of cases. Survival was 10%. In Group II, tetralogy of Fallot was isolated (N= 17, including 2 pulmonary valve agenesis, 31 +/- 6 weeks) (p< 0.01 versus Group I). Pulmonary artery hypoplasia was observed in 50% of cases with dilatation of the aorta and i nfundibular hypertrophy in all and in one a postnatal progression towards p ulmonary atresia. A correlation between growth of the pulmonary artery and gestational age was found in 9 foetus out of 9 studied sequentially (p betw een 0.03 and 0.007) and between age at first surgery and size of the pulmon ary artery (r= 0.80, p= 0.001). Survival was 84%. The risk of malformation (61%) and the prenatal potential evolution of this disease justifies continuous follow-up of all cases of tetralogy of Fallot , high resolution caryotyping and postnatal evaluation in a specialised cen tre.