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Atrioventricular septal defect in the fetus--associated conditions and outcome in 246 cases
1Department of Obstetrics and Prenatal Medicine, University of Bonn, Germany. christoph.berg@ukb.uni-bonn.de
Insights
Fetal atrioventricular septal defects (AVSD) often accompany chromosomal anomalies. However, fetuses with trisomy 21 show improved cardiac anatomy and survival rates compared to those with normal karyotypes.
Area of Science:
- Cardiology
- Prenatal Diagnosis
- Genetics
Background:
- Atrioventricular septal defects (AVSD) are congenital heart conditions.
- Prenatal detection of AVSD allows for early risk assessment and management planning.
Purpose of the Study:
- To evaluate associated conditions and outcomes of fetuses diagnosed with AVSD.
- To compare outcomes between fetuses with trisomy 21 and those with normal karyotypes.
Main Methods:
- Retrospective review of 246 prenatally detected AVSD cases from 1998-2006 in Germany.
- Analysis of associated chromosomal anomalies, syndromes, and cardiac malformations.
- Evaluation of pregnancy outcomes, including termination, in-utero demise, and survival rates.
Main Results:
- Chromosomal anomalies were found in 52.4% of cases; trisomy 21 was associated with balanced ventricular morphology and isolated AVSD.
- Pregnancy termination occurred in 58.5% of cases.
- Survival rate among live births was 64.9%; fetuses with trisomy 21 had significantly better survival and biventricular repair rates.
Conclusions:
- Fetuses with AVSD and trisomy 21 exhibit better cardiac anatomy and survival outcomes.
- Further research is needed to clarify outcomes for euploid fetuses with isolated or balanced AVSD.
Purpose:
To evaluate the associated conditions and the outcome of atrioventricular septal defects (AVSD) detected in fetal life.
Materials And Methods:
Retrospective review of all cases of AVSD detected prenatally between 1998 and 2006 in two tertiary referral centers in Germany.
Results:
246 cases of AVSD were detected in the study period: 129 (52.4 %) chromosomal anomalies; 72 (29.3 %) heterotaxy syndromes; 17 (6.9 %) non-chromosomal malformation syndromes; 16 (6.5 %) isolated complex cardiac malformations; 5 (2.0 %) singular extracardiac malformations; 7 (2.8 %) isolated AVSD. Chromosomal anomalies were detected significantly earlier in pregnancy (p < 0.01). Associated intracardiac malformations were present in 109/246 (44.3 %) cases. Fetuses with trisomy 21 were significantly associated with balanced ventricular morphology and isolated AVSD (p < 0.01). Among the 246 cases, 144 (58.5 %) underwent termination of pregnancy, 18 (7.3 %) died in utero, 17 (6.9 %) in the neonatal period and 19 (7.7 %) in infancy. Forty-eight children (19.5 %) survived with a mean follow-up of 34.94 +/- 18.6 months. After exclusion of lethal malformations, the survival rate among live births was 64.9 % (48 / 74). Fetuses with trisomy 21 had significantly better survival rates among continued pregnancies (p < 0.01) and significantly higher rates of successful biventricular repair among survivors who received their final corrective procedure (p < 0.01) than fetuses with normal karyotypes.
Conclusion:
Among fetuses with AVSD, those with trisomy 21 are detected earlier in pregnancy, have less distorted cardiac anatomy, higher rates of biventricular repair and better survival rates. Due to the limited sample size in euploid fetuses, it remains unclear whether this apparent protection afforded to Down syndrome accounts also for cohorts with isolated and balanced AVSD.
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