An isolated intracardiac echogenic focus as a marker for aneuploidy

This study was undertaken to evaluate the relationship of an isolated fetal intracardiac echogenic focus in a population of patients with a mixed risk for aneuploidy when presenting for prenatal diagnosis.

All women referred to our institution for screening ultrasound were prospectively evaluated for the presence of an intracardiac echogenic focus in the fetal heart. Each patient was evaluated for the presence of clinical risk factors including ultrasound findings, biochemical screening, and maternal age. The population of patients was then described and neonatal outcomes were obtained.

A total of 10,875 patients were referred and 176 cases of fetal intracardiac echogenic foci were evaluated. There was an overall prevalence of 1.6% in our population. The patients with other ultrasound findings and/or maternal age older than 35 years who underwent amniocentesis had 3 abnormal karyotypes identified and had identifiable risk factors. In the group less than 35 years, the relative risk was 2.55 of having an amniocentesis for an isolated echogenic focus (with no cases of fetal aneuploidy found) in comparison with our referred group of nonadvanced maternal age patients without any ultrasound markers or findings.

This isolated echogenic finding appears to be a benign variant and not an increased risk for fetal aneuploidy. The chromosomal abnormalities were seen in the group with risk factors including maternal age and/or other ultrasound findings. Evaluation of maternal age, biochemical markers, and ultrasound markers should be used together to help determine the risk of patients with an isolated echogenic focus.