Handbook of Genetic Counseling/Echogenic Bowel
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Echogenic Bowel
Contents |
[edit] What is it?
- 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
[edit] What does it mean?
- 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
[edit] What are the risks?
- 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)
[edit] What should be done?
- 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
[edit] Reference
- Genetic Disorders and the Fetus. 4th Edition Ed. Aubrey Milunsky. 1998
[edit] Notes
The information in this outline was last updated in 2002.
