Abstract
Fetal intracardiac echogenic foci (IEF) have frequently been reported to be associated with fetal aneuploidy. The overall incidence of IEF ranges from 0.17% to 20 varying with background risk. Data on this association remains inconclusive, while an association was shown in initial studies, recent studies differentiating between different risk groups could not reproduce those findings in low risk populations. To evaluate the incidence of IEF and its association with fetal aneuploidy in patients referred to our prenatal department for 2nd-trimester genetic sonogram. We performed a retrospective chart analysis of all patients with an IEF at the prenatal department of the University Hospital, Mainz from 1999-2005. An IEF was found in 89 of a total of 10527 screened patients (0.85%). 23 out of those 89 patients opted for invasive diagnostics (26%). An isolated IEF was found in 73 cases (82%), the majority being located in the left ventricle (73%). 7 fetuses were found to have aneuploidy (trisomy 13, 18 and 21) (0.079%). In 6 out of the 7 fetuses maternal age was over 35 years (86%). Out of those 7 fetuses, 3 had an isolated IEF, in all those cases, maternal age was over 35 years. A first-trimester screening had been done in 2 out of those 7 fetuses and was normal. Our collective has a relatively low incidence of IEF indicating a low risk background population. In the case of fetal aneuploidy we found the majority of patients to have at least one other risk factor, the most common being maternal age over 35 years (> 90%). In those patients with fetuses with aneuploidy and who were older than 35 years we found an isolated IEF in 50% (3out of 6). There was however, no case of aneuploidy in our women with IEF who were younger than 35 years. According to our data there is no medical indication for invasive diagnostics in case of an isolated IEF in a patient younger than 35 years coming from our low risk population.
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