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 antenat ally detected hyperechogenic foci in the fetal heart. Design Prospective study. Subjects and methods During a 21-month period 6995 women underwent a sonogr aphic screening investigation. A detailed structural survey was performed o n each fetus according to our sonography protocol, including a four-chamber view and an evaluation of the great vessels, as permitted by gestational a ge. We prospectively identified each fetus with an echogenic intracardiac f ocus. Results A total of 150 fetuses with this sonographic finding were identifie d. The incidence rate was 2.15%. In 114 patients (76%), prenatal karyotypin g was performed The aneuploidy rate was 4.4%. Conclusions The echogenic intracardiac focus can be easily diagnosed in mos t cases. This should prompt an extensive search for other 'soft' markers. T he presence of an echogenic intracardiac focus as a single soft marker shou ld raise the question of prenatal karyotyping. It might help in the decisio n-making regarding invasive prenatal testing in cases with an otherwise low risk for chromosomal abnormality. In cases with other markers for chromoso mal abnormality (advanced maternal age, sonographic signs, positive serum m arker screening), the presence of an echogenic intracardiac focus should be an additional incentive for a chromosomal examination.