Congenital heart disease and aneuploidy

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Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound (30/45MHZ) System
07:34

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R C Wimalasundera1, H M Gardiner

  • 1Centre for Fetal Care, Queen Charlotte's and Chelsea Hospital, London, UK. r.wimalasundera@imperial.ac.uk

Prenatal Diagnosis
|December 23, 2004
PubMed

Insights

Congenital heart disease (CHD) is frequently diagnosed prenatally. Many cases of CHD are linked to fetal aneuploidy, requiring careful counseling for parents regarding prognosis and management.

Area of Science:

  • Prenatal Diagnosis
  • Genetics
  • Cardiology

Background:

  • Congenital heart disease (CHD) is a common prenatal diagnosis via ultrasound.
  • Up to 33% of fetuses with CHD also have fetal aneuploidy.
  • Specific cardiac lesions correlate with particular chromosomal abnormalities.

Purpose of the Study:

  • To review the frequency and types of aneuploidy associated with common CHD.
  • To discuss the management and prognosis of fetuses with CHD and aneuploidy.
  • To inform clinicians for appropriate parental counseling.

Main Methods:

  • Review of existing literature on CHD and aneuploidy associations.
  • Analysis of data on specific cardiac lesions and chromosomal abnormalities.
  • Discussion of multidisciplinary team management strategies.

Main Results:

  • Significant associations exist between certain CHD and specific aneuploidies.
  • Most fetuses with CHD and aneuploidy present with extra-cardiac anomalies.
  • Multidisciplinary team approach is crucial for comprehensive care.

Conclusions:

  • Clinicians must be aware of aneuploidy associations with CHD.
  • Accurate counseling on prognosis and management is essential for parents.
  • Understanding these links improves care for affected fetuses.

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