Echogenic foci in the fetal heart: a marker of chromosomal abnormality

Prevalence of aneuploidy with a cardiac intraventricular echogenic focus in an at-risk patient population.

“…Although the study period of 2 years, the total number of sonograms (approximately 5100), and the number of fetuses with ECF (244 of 5100) are equal to or greater than those in other studies, 1,[3][4][5][6][7][8][9][10][11][12] the current study is still limited by the lack of complete outcome information on those patients declining amniocentesis.…”

“…[1][2][3][4][5][6][7] Other data have indicated the existence of a significant aneuploidy risk in association with ECF, [8][9][10][11]14 Biventricular ECFs have been reported to represent even greater risk of aneuploidy than isolated right or left ventricular ECF, 14 and multiple ECFs have been associated with structural cardiac deformities. 12 The clinical application of these published reports is limited by the conflicting results.…”

Prenatal diagnosis of 22q11 microdeletion in an early second‐trimester fetus with conotruncal anomaly presenting with increased nuchal translucency and bilateral intracardiac echogenic foci

“…Moreover, they report on neither the number nor the location of the echogenic foci. Only a few reports exist on the association between echogenic foci and cardiac defects 16,17 , but an unusual number or location of echogenic foci should increase the suspicion of this association 16 . We recently reported our experience in 279 fetuses with cardiac defects: an echogenic focus was found in 31 fetuses (11%) and in 14 of them it was associated with a chromosomal anomaly.…”

Fetal echo cardiography: the state of the art of the state of the heart

“…Visualization of very tiny structures like the coronary arteries using real-time ultrasound has become possible ( Figure 1a) as well as of other structures such as the fetal thymus, which had not been seen accurately before (Figure 1b). The other side of the coin is that the increased resolution using 5-7-MHz transducers has led to the identification of new details such as the echogenic intracardiac focus, with all the discussions on whether it is associated with chromosomal or other anomalies 16,17 .…”