Comparison of prenatal ultrasound and postmortem findings in fetuses and infants with congenital heart defects

Objective Detection of congenital heart defects by prenatal ultrasound exam ination has been one of the great challenges since the investigation for fe tal anomalies became part of the routine fetal examination. This prospectiv e study was designed to evaluate the concordance of prenatal ultrasound fin dings with autopsy examination in a population consisting of both referred women and non-selected pregnant women. Design Criteria for inclusion were an ultrasound examination at the Nationa l Center for Fetal Medicine and an autopsy performed during the years 1985- 94. Results from the ultrasound and autopsy examinations were systematized into categories depending on the degree of concordance. Results Of 408 infants and fetuses with developmental anomalies, 106 (26%) had congenital heart defects. In 63 (59%) of these 106 cases, the heart def ect was the principal reason for the termination of pregnancy or the cause of death. Excluding five cases with a secundum atrial septal defect, there was complete agreement between the ultrasound examination and the autopsy f indings in 74 (73%) of 101 cases. In 18 cases, there were minor discrepanci es between ultrasound and autopsy findings. The main diagnosis was thus cor rect in 92 cases (91%). From the first time period (1985-89) to the second (1990-94), the detection rate of all heart defects increased from 48% to 82 %. Conclusion This study confirms a good correlation between ultrasound and au topsy diagnoses in fetuses and infants with congenital heart defects. A sig nificant improvement in the detection of heart defects occurred from the fi rst time period to the second and was probably due to increased experience and technical advances.