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Atrioventricular septal defect in the fetus
1Department of Pediatric Cardiology, Babies Hospital, New York, New York, USA.
Insights
Prenatal screening can detect atrioventricular septal defects, a serious heart malformation. However, current detection rates are below 50%, highlighting a critical gap in fetal diagnosis.
Area of Science:
- Fetal cardiology
- Congenital heart defects
- Prenatal diagnosis
Background:
- Atrioventricular septal defect (AVSD) is a significant congenital heart malformation.
- Early detection is crucial for fetal management and outcomes.
Purpose of the Study:
- To investigate the spectrum of disease and outcomes associated with fetal atrioventricular septal defects.
- To analyze the contemporary prenatal detection rates of atrioventricular septal defects.
Main Methods:
- Retrospective review of all identified cases of atrioventricular septal defect.
- Cases were ascertained prenatally or in infants between 1994 and 1998.
Main Results:
- 49 fetal and 63 infant cases of atrioventricular septal defect were identified.
- In fetuses, AVSD occurred in isolation (18 cases), with heterotaxia (22 cases), left ventricular malformations (8 cases), or Tetralogy of Fallot (1 case).
- 13 of 18 isolated AVSD cases were associated with Down syndrome; 23 fetuses survived.
Conclusions:
- Atrioventricular septal defects are detectable via the 4-chamber view during obstetric ultrasound.
- Despite recommendations, prenatal detection rates remain below 50%.
- Improved prenatal recognition of AVSD is vital for fetal care and management planning.
Objective:
I sought to study the spectrum of disease and outcome seen with atrioventricular septal defect in fetal life and to analyze the current rate of prenatal detection of this malformation.
Study Design:
All cases of atrioventricular septal defect detected prenatally or in infants were ascertained between 1994 and 1998.
Results:
An atrioventricular septal defect was detected in 49 fetuses and in a further 63 infants during this 5-year period. Among the 49 fetuses the atrioventricular septal defect was the only heart malformation in 18 (with Down syndrome in 13/18) and associated with a heterotaxia syndrome in 22, left ventricular malformations in 8, and the tetralogy of Fallot in 1. There were 23 survivors among the 49 fetuses.
Conclusion:
Despite the fact that an atrioventricular septal defect is detectable by 4-chamber view screening and this view is recommended as part of obstetric ultrasonographic evaluation, the rate of detection of this lesion prenatally is currently <50%. The recognition of this lesion has important implications for the fetus.