Title of article
Mid–trimester Hyperechogenic Bowel in a Fetus of Turkish Origin Carrying a Rarely seen Mutation of Cystic Fibrosis
Author/Authors
Kazandi, Mert Ege University - Faculty of Medicine - Department of Obstetrics and Gynecology, Turkey , Turan, Volkan Ege University - Faculty of Medicine - Department of Obstetrics and Gynecology, Turkey , Selvi Demirtas, Gülsah Ege University - Faculty of Medicine - Department of Obstetrics and Gynecology, Turkey , Akercan, Fuat Ege University - Faculty of Medicine - Department of Obstetrics and Gynecology, Turkey , Aykut, Ayca Ege University - Faculty of Medicine - Department of Genetics, Turkey , Ozkinay, Ferda Ege University - Faculty of Medicine - Department of Genetics, Turkey
From page
449
To page
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.IIe1000fsX1001 and p.Asp110His subsequent to amniocentesis. The mutations were most likely disease-causing, and pregnancy was terminated.
Keywords
Amniocentesis , cystic fibrosis , hyperechogenic bowel
Journal title
Archives of Iranian Medicine
Journal title
Archives of Iranian Medicine
Record number
2545037
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