Mid–trimester hyperechogenic bowel in a fetus of Japanese origin carrying a new mutation of CFTR gene (L548Q) |
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| Authors: | M Yamamoto D Molina-Gomes E Girodon-Boulandet M Moulis B Leroy B Simon-Bouy J Selva Y Ville |
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| Affiliation: | 1. Department of Obstetrics and Gynecology, Paris-Ouest University, CHI Poissy-St-Germain, France;2. Medical Genetics Service, Paris-Ouest University, CHI Poissy-St-Germain, France;3. Service of Biochemistry, Molecular Genetics Laboratory, Henri Mondor Hospital, Paris, France;4. Obstetrics and Gynecology Service, Mantes La Jolie Hospital, France;5. Fetal Pathology Unit, Paris-Ouest University, CHI Poissy-St-Germain, France;6. SESEP Laboratory, Université de Versailles, France |
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| 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 ΔF508 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. Copyright © 2006 John Wiley & Sons, Ltd. |
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| Keywords: | CFTR gene mutation prenatal diagnosis hyperechogenic bowel new CFTR mutation |
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