Academy of Medical Sciences of I.R. Iran Archives of Iranian Medicine 1029-2977 15 7 2012 07 01 Mid–trimester Hyperechogenic Bowel in a Fetus of Turkish Origin Carrying a Rarely seen Mutation of Cystic Fibrosis 0 0 EN Mert Kazandi Volkan Turan Gülsah Selvi Demirtas Fuat Akercan Ayca Aykut Ferda Ozkinay Journal Article Cystic fibrosis (CF) is one of the most common severe autosomal recessive genetic disorders, characterized primarily by chronic obstructive lung disease and maldigestion disorder. The disease is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. Here we present a case of a fetus with hyperechogenic bowel, in which compound heterozygosity was established for the mutations p.IIe1000fsX1001 and p.Asp110His subsequent to amniocentesis. The mutations were most likely disease-causing, and pregnancy was terminated.