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Genetic counseling: Echogenic Bowel

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Echogenic Bowel

What is it?Edit

  • when, on ultrasound, the fetus' bowel appears to have more echogenicity than the liver, or similar or greater echogenicity than the surrounding bone
  • can be a transient feature

What does it mean?Edit

  • most likely etiology is intra-amniotic bleeding and swallowing of the stained fluid by the fetus, followed by its accumulation within the meconium
  • can be indicative of a chromosome abnormality (e.g., Down Syndrome, Cystic Fibrosis)
  • is most often a non-specific finding (seen in fetuses with intestinal obstruction/blockage, congenital cytomegalovirus infection, growth restriction)
  • has been reported as a normal variant during the second trimester
  • can also be indicative of early ascites, fetal hypoxia, placental insufficiency, and meconium peritonitis

What are the risks?Edit

  • the risk of Down Syndrome in fetuses with isolated hyperechogenic bowel is 1.4%
  • in "high risk" women (abnormal MSAFP screen, family history of Cystic Fibrosis, and/or AMA), echogenic bowel is associated with:
  • Cystic Fibrosis in 3% of fetuses
  • chromosome abnormalities in 12.4% of fetuses
  • (most data has been collected from this high risk group)
  • 12.5% of fetuses with Down Syndrome have been reported to have echogenic bowel
  • the only abnormal ultrasound finding in 41% of these cases
  • chromosomal abnormalities are more often diagnosed when there are findings in addition to hyperechogenic bowel (multiple abnormalities)

What should be done?Edit

  • future ultrasounds should be performed to determine if the finding is transient
  • all women with this ultrasound finding should undergo a fetal karyotype, parental CF mutation studies, and assessment of the presence of a congenital infection

ReferenceEdit

  • Genetic Disorders and the Fetus. 4th Edition Ed. Aubrey Milunsky. 1998

NotesEdit

The information in this outline was last updated in 2002.


This material has been imported fom the wikibook "Genetic counseling"[ http://en.wikibooks.org/wiki/Genetic_counseling] under the GNU Free Documentation License.

Heckert GNU white Permission is granted to copy, distribute and/or modify this document under the terms of the GNU Free Documentation License, Version 1.2 or any later version published by the Free Software Foundation; with no Invariant Sections, no Front-Cover Texts, and no Back-Cover Texts. A copy of the license is included in the section entitled "GNU Free Documentation License."

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