Hyperechogenic bowel

Question

I am 30 years old and pregnant with my first child. I had the second level ultrasound and the doctor detected a hyperechogenic bowel. All the tests till now were good, but I was informed that the possibility for Down syndrome had risen from 1/19194 to 1/6398. The doctor said it may not mean anything, or that the fetus might have swallowed some blood, but we did a blood test for CF. He told me in order to exclude with certainty the possibility of a chromosomic anomaly we have to do an amniocentesis, but this prospect frightens me. Is it wise to do the amniocentesis?

Answer

Dear friend,
The hyperechogenic bowel is an ultrasound finding that may be attributed to many and different factors.
In many cases no cause may be detected, but in a small percentage there may be serious causes, like some chromosomic anomaly (1%), CF (1-3%) and others (Simon-Bony 2008).
You mentioned that you had a blood test for CF. I presume that you were checked for CF mutations (at 75%, 95% or something else). Was your husband checked as well? What were the results? If the results were negative for CF mutations, at least in one of you, then the chance of the fetus having CF is really really small and I would not recommend an amniocentesis. If the results were positive for both of you (i.e. you and the father of the child carry one CF mutation each), then the amniocentesis is something that must be discussed.
The amniocentesis for the investigation of chromosomal anomalies (e.g. Down Syndrome) is something I cannot offer any advice on, since CF is not a chromosomal anomaly but it is due to pathologic mutations in the CFTR gene.
Yours friendly,
Dr. Stavros Doudounakis

02.07.2013