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Keywords:

  • congenital heart disease;
  • prenatal diagnosis;
  • newborn;
  • screening;
  • echocardiography

Background.  Congenital heart disease (CHD) is a significant cause of perinatal mortality and morbidity worldwide. Prenatal detection rate of CHD remains low in most European countries and a substantial proportion of infants with serious heart disease are diagnosed only after discharge from hospital after birth. Earlier recognition of treatable abnormalities may improve the perinatal outcome. The purpose of this study was to evaluate the incidence, pre- and postnatal diagnosis and outcome of major CHD in two northern-most counties of Norway.

Materials and methods.  All cases of major CHD were identified by reviewing the records of all fetal and neonatal echocardiographies and all perinatal autopsies performed during the study period. Data were obtained on maternal age, associated risk factors, time of diagnosis, type of CHD and outcome.

Results.  Ninety-one fetal and 52 neonatal echocardiographies and 77 perinatal autopsies were performed during the 2-year study period. There was a total of 5658 births during this period. Twenty-five cases of major CHD were identified. Six of them were diagnosed prenatally, 18 after birth, and one additional case was identified from the perinatal autopsy register. The incidence of major CHD in Northern Norway was 4.4 per 1000 births. The prenatal detection rate was 24% (6/25). In 39% (7/18) of cases diagnosed postnatally the diagnosis was made following a second admission after the baby has been initially discharged from hospital after birth. The mortality among liveborn infants with major CHD was 17.4% (4/23).

Conclusion.  Despite almost universal prenatal ultrasound screening and at least one neonatal examination before discharge, the diagnosis of major CHD is made after a relevant delay in a substantial proportion of cases.