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Hyperechogenic fetal bowel

Question
Good evening. I am 22 weeks pregnant and during the routine ultrasonograph the doctor diagnosed hyperechogenic fetal bowel. Without having any positive family history I have been checked at Laiko Hospital, Athens for the 75% of possible cystic fibrosis mutations and the results were negative. How much does the risk for cystic fibrosis increase due to this positive finding after the ultrasonograph? Would you recommend amniocentesis? Thanks in advance!
Answer
Dear friend,
Since you and your husband have been checked for the 75% of possible mutations and the results were negative, the chances that the hyperechogenic fetal bowel during the routine ultrasonograph is associated with cystic fibrosis have reduced to a minimum. Apart from CF, the possibility of a chromosomal abnormality, which is associated with hyperechogenic fetal bowel, must be investigated and eliminated, something that needs to be discussed with your gynaecologist.

Yours friendly,
Dr. Stavros Doudounakis
22.06.2009