1. Mid-trimester hyperechogenic bowel in a fetus of Japanese origin carrying a new mutation of CFTR gene (L548Q)
- Author
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M Yamamoto, B Simon-Bouy, Yves Ville, Jacqueline Selva, M Moulis, E Girodon-Boulandet, Brigitte Leroy, and D. Molina-Gomes
- Subjects
Adult ,Male ,congenital, hereditary, and neonatal diseases and abnormalities ,Pathology ,medicine.medical_specialty ,Pancreatic disease ,Cystic Fibrosis ,Cystic Fibrosis Transmembrane Conductance Regulator ,Prenatal diagnosis ,Genetic Counseling ,Compound heterozygosity ,medicine.disease_cause ,Cystic fibrosis ,Diagnosis, Differential ,Pregnancy ,Prenatal Diagnosis ,medicine ,Humans ,Abnormalities, Multiple ,Genetics (clinical) ,Ultrasonography ,Mutation ,Fetus ,biology ,Obstetrics and Gynecology ,medicine.disease ,digestive system diseases ,Cystic fibrosis transmembrane conductance regulator ,Intestines ,Pregnancy Trimester, Second ,biology.protein ,Gestation ,Female - 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. more...
- Published
- 2005