Mid-trimester Hyperechogenic Bowel in a Fetus of Turkish Origin Carrying a Rarely seen Mutation of Cystic Fibrosis


Kazandi M. , Turan V., Demirtas G. S. , Akercan F. , Aykut A. , Ozkinay F.

ARCHIVES OF IRANIAN MEDICINE, vol.15, no.7, pp.449-451, 2012 (Journal Indexed in SCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 15 Issue: 7
  • Publication Date: 2012
  • Title of Journal : ARCHIVES OF IRANIAN MEDICINE
  • Page Numbers: pp.449-451

Abstract

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.lle1000fsX1001 and p.Asp110His subsequent to amniocentesis. The mutations were most likely disease-causing, and pregnancy was terminated.