title: Mid-trimester hyperechogenic bowel in a fetus of Japanese origin carrying a new mutation of CFTR gene (L548Q).
abstract: We present a case of a fetus with hyperechogenic bowel, in which the L548Q mutation was detected in the mother of Japanese origin and the deltaF508 mutation in the father of Caucasian origin. The fetus proved to be compound heterozygous. Research into cystic fibrosis transmembrane conductance regulator (CFTR) mutations in this case was triggered by the fact that the fetus had a characteristic hyperechogenic bowel image with normal karyotype and no indications of intrauterine infections. Hyperechogenic bowel is highly indicative of a CFTR gene mutation. The incidence of cystic fibrosis (CF) in fetuses with mid-trimester hyperechogenic bowel is 5%, but once the most frequent mutations have been accounted for, rarer mutations must be investigated.
authors.affiliation: Department of Obstetrics and Gynecology, Paris-Ouest University, CHI Poissy-St-Germain, France.
authors.forename: M
authors.initials: M
authors.lastname: Yamamoto
authors.forename: D
authors.initials: D
authors.lastname: Molina-Gomes
authors.forename: E
authors.initials: E
authors.lastname: Girodon-Boulandet
authors.forename: M
authors.initials: M
authors.lastname: Moulis
authors.forename: B
authors.initials: B
authors.lastname: Leroy
authors.forename: B
authors.initials: B
authors.lastname: Simon-Bouy
authors.forename: J
authors.initials: J
authors.lastname: Selva
authors.forename: Y
authors.initials: Y
authors.lastname: Ville
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D000328:Adult; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007422:Intestines / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000196:embryology; D008297:Male; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D014463:Ultrasonography
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator