Echogenic Bowel - Prenatal Genetics

Echogenic bowel on ultrasound is defined as brightness of the bowel similar to or greater than that of the surrounding bone. Echogenic bowel is not a birth defect. However, it is considered a “soft marker”, indicating that the baby may have an increased risk for a chromosome abnormality, specifically Down syndrome. Echogenic bowel in the fetus is associated with chromosome abnormalities (specifically a 5.5-6.7 fold increased risk for Down syndrome), cystic fibrosis, viral infections, gastrointestinal malformations, and blood in the amniotic fluid.  In addition, some cases of echogenic bowel may be associated with poor placental functioning, which increases the risk for pregnancy complications. 

What Happens After Echogenic Bowel Is Identified? 

When echogenic bowel is identified on ultrasound, there is the option for additional testing. A more detailed ultrasound, to look for additional anatomic information, may be recommended depending upon the amount of detail that was obtained on previous ultrasounds. Prenatal cell-free DNA screening (NIPS) is recommended if not yet performed. If the screening is reassuring (negative), no further diagnostic testing is recommended. Prenatal diagnostic testing by amniocentesis is, however, always available for any indication, to test for chromosome abnormalities during pregnancy. In addition, evaluation for cystic fibrosis and viral infections is recommended as well as a follow up ultrasound in the third trimester of pregnancy to re-evaluate the bowel and check fetal growth. 

Genetic counseling to review the implications of the echogenic bowel is available, and to coordinate additional testing, if indicated. 

It is important to remember that echogenic bowel may be a normal variant in a baby and cause no health problems.