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
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.
