hyperechogenic bowel

Question

I am 22 weeks pregnant with my second child and during the ultrasound a hyperechogenic bowel was detected with no other indication of a chromosome anomaly. I am 33 years old and the chance for a down syndrome is 1:2500. I was tested for 90% of CF mutations and I am waiting for the results. If I am negative, should my husband get tested? Would you recommend some other embryonic dna blood test or amniocentesis for the chromosome deformities?

Answer

Dear friend,
You are 22 weeks pregnant and a hyperchogenic bowel was detected without any indication for chromosome anomalies. You have been checked for 90% of CF mutations and the results are pending.
The hyperechogenic bowel is a finding that in no case can be regarded as proof for CF. It could be due to various causes, such as a chromosome anomalites, the existence of blood in the bowel, etc, or it could be an incidental finding. In a very small percentage it could be due to CF.
In case the results of your CF mutation check are positive, then your husband must be checked as well. If they are negative, then the chance of you being a carrier of a CF mutation is reduced according to the percentage of mutations checked. It is not excluded, but greatly reduced.
The amniocentesis for the investigation of chromosome anomalities is a subject I cannot give any advice on, since CF is not a chromosome anomaly, but a result of pathogenic mutations in the CFTR gene.

Yours friendly,
Dr. Stavros Doudounakis

06.01.2015

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