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Evolution and long term outcome in cases with fetal diagnosis of congenital heart disease: Italian multicentre study


OBJECTIVES To analyse the evolution and outcome in utero and after birth of infants with a fetal diagnosis of congenital heart disease.

DESIGN Inclusion criteria were the fetal diagnosis of congenital heart disease, confirmed postnatally or postmortem, and a complete follow up in utero and after birth.

SETTING 20 centres operating prenatal echocardiographic screening.

PATIENTS 847 cases were included in the study. Gestational age at diagnosis ranged from 15–39 weeks; in 370 cases (43.7%) the diagnosis was made before 24 weeks' gestation.

RESULTS 245/847 cases (28.9%) were terminated during pregnancy, 227 following early diagnosis; 128/245 cases (52.2%) had associated anomalies and 117/245 (47.8%) had serious congenital heart disease. Of the remaining 602 cases that continued the pregnancy, 72 (11.9%) died in utero, 259 (43%) died postnatally (83 after surgery or invasive procedures), and 271 infants (45%) survived and presently range in age from 18 months to 13 years old. The mortality rate was higher in cases with associated extracardiac or chromosomal anomalies (68% and 74% of cases continuing pregnancy, respectively), and in cases with heart failure and complex cardiac defects.

CONCLUSIONS The data confirm a relevant fetal and postnatal loss in cases with complex congenital heart disease, and major clinical use of prenatal diagnosis in the management of ductus dependent anomalies. Negative prognostic factors for the outcome were associated anomalies and heart failure.

  • fetal echocardiography
  • congenital heart disease
  • prenatal diagnosis

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