Recurrence of congenital heart disease in cases with familial risk screened prenatally by echocardiography

J Pregnancy. 2011:2011:368067. doi: 10.1155/2011/368067. Epub 2011 Oct 1.

Abstract

Objectives: To evaluate the recurrence of congenital heart disease (CHD) in pregnant women with familial risk who had been referred for fetal echocardiography.

Material and methods: 1634 pregnancies from 1483 women with familial history of CHD in one or more relatives were studied. Fetal cardiologic diagnosis was compared with postnatal findings at 6 months or at autopsy.

Results: Total recurrence rate of CHD was 3.98%, 4.06% in single familial risk, 2.9% in double, and 5% in multiple risk. It was 3.5% in case of one previously affected child; 4.5% with 2 children; 5.2% with the mother alone affected and 7,5% with father alone affected and 3.5% with a single distant relative. Exact concordance of CHD was found in 21.5% and a partial concordance in 20% of cases.

Conclusions: Our data show a higher recurrence rate of CHD than previously published data and high relative risk ratios compared to normal population.

MeSH terms

  • Echocardiography*
  • Female
  • Follow-Up Studies
  • Heart Defects, Congenital / diagnostic imaging
  • Heart Defects, Congenital / epidemiology*
  • Heart Defects, Congenital / genetics*
  • Humans
  • Incidence
  • Infant, Newborn
  • Male
  • Pedigree*
  • Pregnancy
  • Prospective Studies
  • Recurrence
  • Risk Factors
  • Ultrasonography, Prenatal*