The significance of choroid plexus cysts, echogenic heart foci and renal pyelectasis in the first trimester

Abstract

Objective: To determine the significance of certain soft ultrasonographic markers for chromosomal abnormalities in the first trimester.

Design: This was a prospective cross-sectional study.

Setting: University Department of Obstetrics and Gynaecology, London, UK.

Methods: A total of 5385 women from an unselected population underwent a detailed assessment of fetal anatomy at 11-14 weeks of gestation (confirmed by crown-rump length) by transabdominal sonography (5.0 MHz) and transvaginal sonography (6.0 MHz) when necessary.

Results: In normal fetuses, the prevalences of choroid plexus cysts, pyelectasis and echogenic heart foci were 2.2, 0.9 and 0.6%, respectively in the first trimester and 2.0, 0.8 and 0.8%, respectively in the second trimester. Pyelectasis (likelihood ratio = 8.0, p = 0.03) and echogenic heart foci (likelihood ratio = 10.3, p = 0.02) were found to be associated significantly with fetal aneuploidy, while choroid plexus cysts were not.

Conclusions: Although the majority of aneuploidies were detected by increased nuchal translucency and/or the presence of structural abnormalities (78%; 25/32), the use of soft ultrasonographic markers in the first trimester would have increased the overall detection by a further 3%. These data are preliminary and many thousands of pregnancies will need to be examined to determine the significance of the individual markers in different chromosomal abnormalities.