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Ventricular septal defect with overriding aorta in trisomy-18

R J Moene1, M Sobotka-Plojhar, A Oppenheimer-Dekker

  • 1Department of Paediatric Cardiology, Free University Hospital, Amsterdam, The Netherlands.

European Journal of Pediatrics
|June 1, 1988
PubMed

Insights

Prenatal echocardiography detecting a ventricular septal defect with overriding aorta in a child suggests a 50% risk of trisomy-18. Further ultrasound and genetic testing are recommended for diagnosis.

Area of Science:

  • Pediatric Cardiology
  • Prenatal Diagnosis
  • Medical Genetics

Background:

  • Trisomy 18 (Edwards syndrome) is a genetic disorder associated with multiple congenital anomalies.
  • Congenital heart defects are common in infants with trisomy 18.
  • Prenatal diagnosis of cardiac malformations can guide further investigation.

Observation:

  • A case report details a child diagnosed prenatally with a ventricular septal defect and overriding aorta via echocardiography.
  • A prior anatomical study revealed a 50% concurrence rate between this specific heart malformation and trisomy 18.

Findings:

  • Prenatal echocardiography identified a ventricular septal defect with an overriding aorta.
  • This cardiac anomaly has a significant association with trisomy 18.

Implications:

  • Prenatal detection of this heart defect warrants a comprehensive ultrasound to screen for other trisomy 18-related anomalies.
  • Cytogenetic analysis of amniotic cells is advised for definitive diagnosis of trisomy 18.
  • Early diagnosis allows for appropriate management planning and parental counseling.

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