Choroid plexus cyst, intracardiac echogenic focus, hyperechogenic bowel and hydronephrosis in screening for trisomy 21 at 11+0 to 13+6 weeks

Objectives To investigate the potential value of choroid plexus cyst, intracardiac echogenic focus, hydronephrosis and hyperechogenic bowel as markers of trisomy 21 at 11 + 0 to 13 + 6 weeks. Methods We examined three-dimensional volumes from 228 fetuses with trisomy 21 and 797 chromosomally normal fetuses at 11 + 0 to 13 + 6 weeks of gestation. We looked for choroid plexus cysts with a minimum diameter of 1.5 mm, intracardiac echogenic focus, hydronephrosis with a minimum anteroposterior diameter of the pelvis of 1.5 mm and hyperechogenic bowel. Results The prevalence of intracardiac echogenic focus, hydronephrosis and hyperechogenic bowel was significantly higher in trisomy 21 than in normal fetuses (9.6% vs. 1.S%, 17.1% vs. S.3% and 11.4% vs. 2.4%, respectively). There was no significant difference between the two groups in the prevalence of choroid plexus cysts (7.5% vs. 5.0%). There were no significant differences in crown-rump length or nuchal translucency thickness in either chromosomally normal or trisomy 21 fetuses between those with and those without any one of the markers. Conclusions At 11 + 0 to 13 + 6 weeks the prevalence of intracardiac echogenic focus, hydronephrosis and hyperechogenic bowel is higher in trisomy 21 than in chromosomally normal fetuses. As there is no significant association between the presence of these markers and nuchal translucency thickness, they could be included in the assessment of risk to improve accuracy of screening. Copyright (c) 2007 ISUOG. Published by John Wiley & Sons, Ltd.