Ethnic variation in the prevalence of echogenic intracardiac foci and the association with Down syndrome

Objective: To determine whether the prevalence of fetal echogenic intracardiac foci (EIF) differs according to maternal ethnicity. Methods: We performed a retrospective cohort study of all women undergoing second-trimester diagnostic ultrasound examination and amniocentesis at a prenatal diagnosis referral center from January 1 2000 to July 1 2003. Data were collected on the presence of EIF, gestational age at time of ultrasound scan, karyotype results, maternal age and ethnicity. Univariate and multivariate analyses of EIF, ethnicity and presence of aneuploidy were conducted. Results: Among the 7480 women qualifying for the study, EIF were found in 309 (4.1%). When maternal ethnicity was subdivided into Caucasian, African-American, Hispanic, Asian-American, Native American, Asian Indian, and Middle Eastern, the highest rates of EIF were found in fetuses of African-American (6.7%), Asian-American (6.9%), and Middle Eastern (8.1%) mothers compared to a rate of 3.3% in Caucasians (T < 0.001). In all ethnic groups except Hispanics, EIF was associated with an increased risk for Down syndrome (odds ratio range from 1.8 to 15.7). Conclusions: African-American, Asian-American, and Middle Eastern patients are more likely than patients of other ethnicities to have a fetus with an EIF. Even controlling for ethnicity, fetuses with an EIF still have an increased risk for Down syndrome. As more data accumulate, the prevalence of EIF and its association with Down syndrome among different ethnic groups can be incorporated into patient counseling.