Prenatal diagnosis of congenital heart defects—a population based study

Abstract

The aim of this study was to describe the efficiency of routine prenatal ultrasound screening for the detection of cardiac defects in a Swedish region and to study the effect of prenatal diagnosis on the survival and outcome of the child. We identified all fetuses and infants with a diagnosed major cardiac defect born in 1999-2003 in a region of Sweden using a register of the regional paediatric cardiac clinic, various health-care registers and registers of prenatally detected malformations. The outcome of newborns with and without a prenatal diagnosis of a cardiac defect was compared. During the study period, 77,241 infants were born in the area. Among 145 major cardiac defects, 21% were detected prenatally. For the two university departments the detection rate was 38%. Of the major cardiac defects diagnosed <23 gestational weeks, 30% were terminated. No significant difference in the outcome was found between children with and without a prenatal diagnosis of a major cardiac defect. It could not be shown that survival and outcome for children with major cardiac defects was better when the defect was known prenatally than if it was detected postnatally. The size of the study prohibits conclusions on moderate differences.