Yamamoto M, Molina-Gomes D, Girodon-Boulandet E, Moulis M, Leroy B, Simon-Bouy B, Selva J, Ville Y
Department of Obstetrics and Gynecology, Paris-Ouest University, CHI Poissy-St-Germain, France.
Prenat Diagn. 2006 Jan;26(1):6-8. doi: 10.1002/pd.1310.
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.
我们报告一例胎儿肠回声增强的病例，其母亲为日本裔，检测到L548Q突变，父亲为白种人，检测到ΔF508突变。该胎儿为复合杂合子。此病例中对囊性纤维化跨膜传导调节因子（CFTR）突变的研究是由以下情况引发的：胎儿具有典型的肠回声增强图像，核型正常且无宫内感染迹象。肠回声增强高度提示CFTR基因突变。孕中期肠回声增强的胎儿中囊性纤维化（CF）的发生率为5%，但一旦考虑了最常见的突变，就必须研究更罕见的突变。
