Mid-trimester hyperechogenic bowel in a fetus of Turkish origin carrying a rarely seen mutation of cystic fibrosis.
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.
Department of Obestetrics and Gynecology, Ege University Faculty of Medicine, Izmir, Turkey.
Mert
M
Kazandi
Volkan
V
Turan
Gulsah
G
Selvi Demirtas
Fuat
F
Akercan
Ayca
A
Aykut
Ferda
F
Ozkinay
D000328:Adult; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D058535:Echogenic Bowel / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation; D011247:Pregnancy; D011262:Pregnancy Trimester, Second
D019005:Cystic Fibrosis Transmembrane Conductance Regulator