The value of echogenic foci ('golfballs') in the fetal heart as a marker of chromosomal abnormalities

Objective The aim of our study was to determine the significance of antenatally detected hyperechogenic foci in the fetal heart. Design Prospective study. Subjects and methods During a 21-month period 6995 women underwent a sonographic screening investigation. A detailed structural survey was performed on each fetus according to our sonography protocol, including a four-chamber view and an evaluation of the great vessels, as permitted by gestational age. We prospectively identified each fetus with an echogenic intracardiac focus. Results A total of 150 fetuses with this sonographic finding were identified. The incidence rate was 2.15%. In 114 patients (76%), prenatal karyotyping was performed The aneuploidy rate was 4.4%. Conclusions The echogenic intracardiac focus can be easily diagnosed in most cases. This should prompt an extensive search for other 'soft' markers. The presence of an echogenic intracardiac focus as a single soft marker should raise the question of prenatal karyotyping. It might help in the decision-making regarding invasive prenatal testing in cases with an otherwise low risk for chromosomal abnormality. In cases with other markers for chromosomal abnormality (advanced maternal age, sonographic signs, positive serum marker screening), the presence of an echogenic intracardiac focus should be an additional incentive for a chromosomal examination.