Outcome of structural heart disease diagnosed in utero

Objective-The aim of the study was to review the outcome of fetuses with structural heart disease detected by echocardiography. Methods-A total of 99 fetuses with different types of cardiac defects, diagnosed at a median gestational age of 28.4 weeks (range 16-41 weeks), were included. The inclusion criteria were a structural heart defect confirmed postnatally or at post-mortem examination, and a complete, long-term follow-up in utero and after birth in the Hospital for Children and Adolescents, Helsinki, Finland from 1983 to 1999. Results-Of 99 fetuses with in utero diagnosed cardiac anomalies, 6 (6%) showed normal cardiac status postnatally. Thirty-five percent of fetuses (n = 10) with heart disease diagnosed before 24 weeks of gestation were terminated. Of 83 fetuses, 7 (8%) with a heart defect died in utero at a median gestational age of 33 weeks. Chromosomal abnormality was found in 28% of cases. Fetuses with normal chromosomes had extracardiac anomalies in 40% of cases. Mortality due to chromosomal abnormality was 73% and from extracardiac anomaly 48%. Intrauterine heart failure was detected in 27% of fetuses and was frequently associated with univentricular heart (UVH) and intracardiac tumors, in 36 and 67%, respectively; 12 fetuses (13%) were found to have associated arrhythmia; 4 of these died. Of 76 live births (median gestational age 38 weeks, birth weight 2878 g), a total of 37 (49%) neonates died. Twenty-four neonates (32%) underwent cardiac surgery or invasive procedure; six infants (25%) died after the procedure. Neonatal mortality was highest in fetuses with hypoplastic left heart syndrome (HLHS), ventricular septal defect (VSD), and UVH (87, 64, and 50%, respectively). In long-term follow-up (median 3.8 years), 34 children of 76 live births (45%) were alive, 59% of them were without symptoms. Conclusion-Our data indicate that despite elective, planned delivery the prognosis for fetuses with in utero diagnosed heart defect was poor. The outcome was largely attributable to associated extracardiac malformations and chromosomal abnormalities.