SIGNIFICANCE OF FETAL INTRACARDIAC ECHOGENIC FOCI IN RELATION TO TRISOMY-21 - A PROSPECTIVE SONOGRAPHIC STUDY OF HIGH-RISK PREGNANT-WOMEN

OBJECTIVE. The aim of the study was to determine if an association exi sts between intracardiac echogenic foci in the second-trimester fetus and trisomy 21. SUBJECTS AND METHODS. Over a 2-year period, targeted f etal sonography was performed for various indications in 1593 second-t rimester high-risk pregnant women. Presence or absence of echogenic fo ci was recorded for each fetus. Amniocentesis for karyotype analysis w as performed in 901 subjects immediately after sonography. The finding s of these 901 subjects formed the basis of this report.RESULTS. Intra cardiac echogenic foci were present in the left ventricle of 24 (3%) o f the 901 fetuses, Three (13%) of these 24 fetuses had trisomy 21; no chromosomal abnormalities were found in the other 21 fetuses. Karyotyp e analysis revealed trisomy 21 in 14 (2%) of the remaining 877 fetuses who did not exhibit intracardiac echogenic foci. The sensitivity, spe cificity, positive predictive values, and negative predictive values f or intracardiac echogenic foci in predicting trisomy 21 were 18%, 98%, 13%, and 98%, respectively. The association of intracardiac echogenic foci and trisomy 21 was significant (p < .009) by the two-tailed Fish er's exact test, CONCLUSION. In a high-risk obstetric population, the association between fetal intracardiac echogenic foci and trisomy 21 w as statistically significant. Therefore, women carrying fetuses with i ntracardiac echogenic foci should be informed of the statistical assoc iation with trisomy 21.