Second-trimester echogenic bowel and chromosomal abnormalities.

Abstract

Our objective was to examine the outcomes of pregnancies in which echogenic bowel was detected in the second trimester. Twenty-two cases with a prospective diagnosis of echogenic bowel were reviewed. Karyotypic studies were performed in 19 cases, and 17 families had deoxyribonucleic acid-based risk assessment for cystic fibrosis. The echogenicity of the bowel was retrospectively reviewed and graded as mild or bright. Five cases of trisomy 21 and one case of trisomy 18 were detected; four of these had other ultrasonographic abnormalities. Twenty-seven percent of fetuses with echogenic bowel were aneuploid. Risk was greatest for cases with brightly echogenic bowel. No cystic fibrosis mutations were detected. The diagnosis of echogenic bowel was reproducible. Brightly echogenic bowel in the second trimester was found to be associated with a significant risk of fetal aneuploidy.