Chanprapaph P, Tongsong T, Wongtra-ngan S
Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Thailand.
J Obstet Gynaecol Res. 2000 Oct;26(5):363-6. doi: 10.1111/j.1447-0756.2000.tb01340.x.
This report presents a sonographic diagnosis of exencephaly combined with omphalocele at 11 weeks of gestation. The transvaginal ultrasound showed frog-eye appearance face with no skull, abnormal shape of disorganized brain with covering membrane separated from brain mass by anechoic fluid in some area, and omphalocele of 8 mm diameter. Therapeutic abortion was successfully done with misoprostol. Postabortal macroscopic findings confirmed the prenatal diagnosis. The combination of exencephaly and omphalocele is rare, and this is one of the earliest diagnosis of not only exencephaly but also omphalocele. To our best knowledge, this represents the earliest diagnosis of the combination. In conclusion, transvaginal ultrasound proved highly informative for both exencephaly and omphalocele as early as in first trimester.
本报告呈现了一例妊娠11周时超声诊断无脑儿合并脐膨出的病例。经阴道超声显示面部呈蛙眼外观，无颅骨，脑形态异常、结构紊乱，部分区域覆盖膜与脑实质之间有液性暗区分隔，且有直径8毫米的脐膨出。使用米索前列醇成功实施了治疗性流产。流产后大体检查结果证实了产前诊断。无脑儿与脐膨出合并的情况较为罕见，这不仅是最早诊断出无脑儿的病例之一，也是最早诊断出脐膨出的病例之一。据我们所知，这是该合并症最早的诊断病例。总之，经阴道超声早在孕早期对无脑儿和脐膨出的诊断就具有很高的信息量。
