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Published on: November 22, 2013
Outcome of structural heart disease diagnosed in utero
Talvikki Boldt1, Sture Andersson, Marianne Eronen
1Hospital for Children and Adolescents and Department of Obstetrics and Gynaecology, Helsinki University Hospital, Helsinki, Finland. talvikki.boldt@hus.fi
Insights
Prognosis for fetuses with congenital heart defects diagnosed in utero remains poor, with high mortality rates. Associated extracardiac malformations and chromosomal abnormalities significantly worsen outcomes for these infants.
Area of Science:
- Perinatology
- Pediatric Cardiology
- Medical Genetics
Background:
- Prenatal diagnosis of structural heart disease (SHD) has advanced significantly.
- Understanding the long-term outcomes of fetuses with SHD is crucial for clinical management and parental counseling.
Purpose of the Study:
- To review the outcomes of fetuses diagnosed with structural heart disease via echocardiography.
- To identify factors influencing fetal and neonatal mortality in this cohort.
Main Methods:
- Retrospective review of 99 fetuses with confirmed cardiac defects from 1983-1999.
- Inclusion criteria: confirmed structural heart defect, and complete in utero and postnatal follow-up.
- Data collected on gestational age at diagnosis, chromosomal status, extracardiac anomalies, and survival.
Main Results:
- Of 99 fetuses, 6% had normal postnatal cardiac status. 35% of those diagnosed before 24 weeks gestation were terminated. In utero mortality was 8%.
- Chromosomal abnormalities were present in 28% of cases, with a 73% mortality rate. Extracardiac anomalies occurred in 40% of chromosomally normal fetuses, with 48% mortality.
- Neonatal mortality was 49% among live births. High-risk conditions included hypoplastic left heart syndrome (HLHS), ventricular septal defect (VSD), and univentricular heart (UVH).
Conclusions:
- The prognosis for fetuses with in utero diagnosed heart defects is poor, even with planned delivery.
- Associated extracardiac malformations and chromosomal abnormalities are major contributors to adverse outcomes.
- Long-term survival rates are suboptimal, highlighting the need for improved prenatal and postnatal management strategies.
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.
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