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Incidence of congenital heart disease: II. Prenatal incidence

J I Hoffman1

  • 1Department of Pediatrics, University of California, San Francisco 94143, USA.

Pediatric Cardiology
|July 1, 1995
PubMed

Insights

Congenital heart disease (CHD) is found in about 1% of live births. Increased CHD incidence in fetal deaths suggests complex lesions and chromosomal abnormalities, like Monosomy X, contribute significantly.

Area of Science:

  • Perinatology
  • Genetics
  • Cardiology

Background:

  • Congenital heart disease (CHD) affects approximately 1 in 100 liveborn infants.
  • Higher incidence of CHD, particularly complex lesions, is observed in non-surviving fetuses.
  • Chromosomal abnormalities are frequently found in early pregnancy losses and linked to maldevelopment.

Purpose of the Study:

  • To investigate the relationship between chromosomal abnormalities and congenital heart disease in fetal demise.
  • To understand the contribution of specific genetic conditions, such as Monosomy X, to CHD incidence.

Main Methods:

  • Review of incidence rates of congenital heart disease in liveborn infants versus fetal deaths.
  • Analysis of the association between chromosomal abnormalities and types of cardiac lesions.
  • Examination of the impact of Monosomy X (45, XO) on fetal survival and CHD.

Main Results:

  • A higher prevalence of complex cardiac lesions is noted in fetuses that die before term.
  • Certain chromosomal abnormalities are associated with these complex lesions and lead to in utero fetal demise.
  • Monosomy X shows a strong link with CHD, with most affected fetuses dying in utero.

Conclusions:

  • Chromosomal abnormalities, including Monosomy X, significantly contribute to the incidence of congenital heart disease, especially in cases of fetal loss.
  • Even a small increase in survival rates for fetuses with conditions like Monosomy X could substantially elevate the overall incidence of CHD.

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