Second-trimester echogenic bowel and chromosomal abnormalities.
OBJECTIVE
Our objective was to examine the outcomes of pregnancies in which echogenic bowel was detected in the second trimester.


METHODS
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.


RESULTS
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.


CONCLUSIONS
Brightly echogenic bowel in the second trimester was found to be associated with a significant risk of fetal aneuploidy.
Scioscia
A L
AL
Department of Reproductive Medicine, University of California, San Diego 92103.
Pretorius
D H
DH
Budorick
N E
NE
Cahill
T C
TC
Axelrod
F T
FT
Leopold
G R
GR
D002869:Chromosome Aberrations / Q000000981:diagnostic imaging*; D025063:Chromosome Disorders; D002887:Chromosomes, Human, Pair 18; D002891:Chromosomes, Human, Pair 21; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006801:Humans; D007422:Intestines / Q000648:ultrastructure*; D011247:Pregnancy; D011256:Pregnancy Outcome; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D011446:Prospective Studies; D012189:Retrospective Studies; D014314:Trisomy; D014463:Ultrasonography