Echgenic bowel in fetus

Question

My sister-in-law is pregnant and during an ultrasound testing the fetus was found with echogenic bowel. She got a dna testing and was found to be a carrier of a rare greek CF mutation. My brother went urgently for a dna testing to determine if he is a carrier as well.
Does the echogenic bowel mean that the fetus is definately a carrier, or has CF, or both? Could it be perfectly health? Not to have received the mutated gene from the mother?
the amniocentesis did not reveal any chromosomic anomalies.

Answer

Dear friend,
The echogenic bowel is not necessarily an indication of any pathology. It could be a symptom of a chromosomic anomaly, which, as you tell me, has been ruled out.
The possibiltity that the fetus may have CF cannot be ruled out. Such a possibility, however, is only valid if, your brother is himself a carrier of a CF gene as well. Even if your brother is a carrier, it does does not necessarily mean that the infant will have CF. For this to happen the infant must inherit the CF gene both from your brother and his wife.
You must wait for the results of the dna testing, in order to plot your next steps.
Yours friendly,
Dr. Stavros Doudounakis

28.03.2011