Accuracy of prenatal echocardiographic diagnosis and prognosis of fetuses with conotruncal anomalies

OBJECTIVES The purpose of the study was to determine the accuracy of the pr enatal echocardiographic diagnosis and prognosis of fetuses with conotrunca l anomalies. BACKGROUND The accuracy of prenatal echocardiographic diagnoses of cardiac lesions has been reported, but no previous reports specifically address fet al. conotruncal anomalies. METHODS Medical records of 61 fetuses, in which a fetal diagnosis of a cono truncal anomaly was made, were reviewed. Disease entities included were tet ralogy of Fallot (TOF), double outlet tight ventricle (DORV), transposition of the great arteries (TGA), and truncus arteriosus (TA). RESULTS Fetal diagnosis was established at a median of 24.5 weeks' gestatio n. Termination of pregnancy was chosen in 31% (19/61) of cases. Postnatal a ssessment of the diagnosis was nor obtained in 12 cases. Excluding two sets of conjoined twins, accurate prenatal diagnosis including definition of th e great artery orientation was achieved in 36 of 47 cases (77%). Seven of 1 7 fetuses with DORV anatomy, of which 6 were thought to have a subpulmonary ventricular septal defect (VSD), had incorrect prenatal assessment of the great artery relationships. One fetus thought to show features of TA had ao rtic atresia with VSD and normal-sized left ventricle. Of the 42 pregnancie s that continued, 15 had major extracardiac malformations and/or chromosoma l abnormalities of which one died in utero with trisomy-13 and TA, A furthe r nine died within the neonatal period. Among the 27 fetuses without a docu mented chromosomal or major extracardiac anomaly, 13 (48%) died. Overall, t he survival rate beyond 28 days of life was 52% (22/42). In contrast, 75% ( 6/8)of fetuses with TOF, excluding the absent pulmonary valve syndrome, sur vived. CONCLUSIONS Conotruncal anomalies can be diagnosed by prenatal echocardiogr aphy with a high degree of accuracy. Defining the exact spatial relationshi p of the great arteries is problematic in some fetuses. The overall prognos is fbr fetuses with a conotruncal anomaly is poor, with the exception of un complicated TOF. (C) 1999 by the American College of Cardiology.