Hogge W A, Hogge J S, Boehm C D, Sanders R C
Department of Obstetrics and Gynecology, University of Maryland.
J Ultrasound Med. 1993 Aug;12(8):451-4. doi: 10.7863/jum.1993.12.8.451.
The sonographic finding of increased echogenicity within the fetal abdomen presents a diagnostic dilemma, with a differential diagnosis ranging from normal variation to CF. We report the diagnostic evaluation of four cases, two of which were found to be the result of CF. On the basis of this experience, we believe that persistence of an echogenic bowel pattern, especially with bowel dilation, after 20 weeks' gestation should prompt an evaluation for CF. Using DNA analysis, approximately 75% of the cases involving CF can be detected with noninvasive studies of the parents, and confirmation by amniocentesis is performed only in those cases in which both parents are carriers of known mutations.
胎儿腹部内回声增强的超声检查结果带来了诊断难题，其鉴别诊断范围从正常变异到囊性纤维化（CF）。我们报告了4例的诊断评估情况，其中2例被发现是囊性纤维化的结果。基于这一经验，我们认为妊娠20周后肠道回声增强模式持续存在，尤其是伴有肠扩张时，应促使对囊性纤维化进行评估。通过DNA分析，约75%涉及囊性纤维化的病例可通过对父母的非侵入性研究检测出来，只有在父母双方都是已知突变携带者的情况下才进行羊膜穿刺术予以确诊。
