Choroid plexus cyst and echogenic intracardiac focus in women at low risk for chromosomal anomalies.

Abstract

Abbreviations AIUM, American Institute of Ultrasound in Medicine; CPC, choroid plexus cyst; EIF, echogenic intracardiac focus he ultrasound community involved with obstetric sonography has been grappling with a controversial issue for a number of years. The issue centers on the so-called soft markers for Down syndrome (trisomy 21) and other trisomic chromosomal anomalies. Recently, the issue has been hotly debated at major meetings of medical organizations involved in sonographic diagnosis, including the American Institute of Ultrasound in Medicine (AIUM) and the Society of Radiologists in Ultrasound. Importantly, both “sides” of the argument were well intentioned. What emerged from these debates was the realization that experts on “opposite” sides of the argument were actually closer to agreement than they had previously thought when it came to the identification of some of these soft markers in lowrisk women. Many of these soft markers have been described. However, 2 of these markers have been the source of the greatest controversy. These are the choroid plexus cyst (CPC) and the echogenic intracardiac focus (EIF). This document is directed solely at these 2 findings in women at low risk for aneuploidy and not at other soft markers that have been reported in the literature or their significance in women at high risk for aneuploidy. The EIF is considered a soft marker for trisomies 21 and 13, whereas the CPC is considered a marker predominantly for trisomy 18.