Echogenic Bowel

What is this and what is its significance?

The main causes of echogenic bowel are:

• A blockage of the digestive tract because of a defect (which can usually be repaired) or by the accumulation of viscous feces in the fetus's intestines (meconium ileus) as a result of a disease such as cystic fibrosis. It is advisable to test the parents for carrier status of this genetic disease.
  
  
• Intrauterine infection by a virus or other pathogen, e.g. CMV (cytomegalovirus). It is advisable to test the mother's blood for antibodies against teratogenic (causing fetal damage) infective pathogens.
  
  
• Chromosome disorders in the fetus. Various studies have shown that the risk for a chromosome disorder in the fetus in the case of an extensive echogenic bowel that continues for a prolonged period is 14% - 16%. In most cases where there is a chromosome disorder, additional defects are also present. The risk of Down syndrome is especially high, and a number of studies have shown that this is increased by a factor of nine in cases where an echogenic bowel is present. However, other reports suggest that the risk is much lower if the echogenic bowel is an isolated finding. In the absence of large studies it is difficult to estimate the exact risk for a chromosome disorder in the fetus.
  
  
• The onset of diffuse edema in the fetus - sometimes with an associated heart defect.
  
  

What should be done if this is diagnosed?

• The parents should be referred for genetic counseling in order to receive a thorough explanation about its significance, and also to discuss whether further tests, particularly amniocentesis, are advisable. In cases of significant true echogenic bowel that continues for a prolonged period, amniocentesis is indicated.
  
  
• It is recommended that the parents undergo a molecular test to check for carrier status of cystic fibrosis.
  It is important to test both parents, or at least the one whose test "coverage" is greater.
  Women who have been tested in the past should be tested for the new mutations that have been discovered since she was first tested.
  
  
• A thorough 3rd level ultrasound scan and further ultrasonic monitoring should be undertaken in order to look for additional defects, to check whether there is intrauterine growth retardation, and to ascertain whether or not the echogenic bowel has resolved.
  
  
• The mother should undergo a blood test to check her levels of antibodies against teratogenic infective pathogens (TORCH organisms). In the case of a suspected infection, the mother should be referred to her physician. If there is a doubt as to whether the mother had an infection during pregnancy, amniocentesis should be performed during or after the 21st week to test for fetal infection.
  
  
• Echocardiography should be performed between the 22nd and the 24th week of gestation.
  
  
• If all the above causes have been ruled out and the intestine is still excessively echogenic, it is advisable to refer the parents to a multidisciplinary clinic in a hospital for professional counseling by a geneticist, a pediatric surgeon, an expert in ultrasound examinations and a neonatologist, in order to collate all the data and discuss the various possibilities and courses of treatment that are available, etc. The decisions taken will depend on the severity of the problem, the presence of additional findings, etc.