胎儿小眼畸形的产前超声诊断经验  

Prenatal ultrasound diagnosis of fetal microphthalmia

作　　者：吴利红[1] 谢红宁[1] 李丽娟[1] 杜柳[1] 郑菊[1] Wu Lihong;Xie Hongning;Li Lijuan;Du Liu;Zheng Ju(Department of Ultrasonic Medicine, First Affiliated Hospital of Sun Yat-sen University, Guangzhou 510080, China)

机构地区：[1]中山大学附属第一医院超声科,广州510080

出　　处：《中华超声影像学杂志》2019年第10期878-881,共4页Chinese Journal of Ultrasonography

基　　金：国家自然科学基金项目(81701459).

摘　　要：目的分析小眼畸形病例的产前超声特征、并发畸形及遗传学异常.方法回顾性分析15例小眼畸形胎儿的超声诊断特征.根据身体系统结构将其合并畸形分组,进一步比较其百分比.结果15例胎儿小眼畸形患眼眼球内径均小于相应孕周正常胎儿眼球内径5%百分位数,其中4例(26 .67%)合并眼内其他畸形;10例(66 .67%)合并眼外系统结构畸形,包括3例(20 .00%)神经系统畸形、 2例(13 .33%)颜面畸形、 4例(26 .67%)心脏畸形、 2例(13 .33%)肢体畸形、 5例(33 .33%)泌尿生殖系统畸形和6例(40 .00%)超声软指标异常.胎儿小眼畸形病例合并不同眼外系统畸形百分比组间比较无统计学意义( P =0 .502).结论胎儿小眼畸形常合并眼外系统结构畸形,但无特异性,属随机、散发.Objective To analyze the ultrasonic features, associated malformations and combined genetic abnormalities of microphthalmia . Methods The characteristics of 15 cases of fetal microphthalmia were retrospectively analyzed. And the proportion of fetal microphthalmia associated malformations were further assessed according to the different organ system. Results All the orbital diameters of affected eyes of the 15 cases were less than the 5th centile of normal fetal orbital diameter corresponding to gestational age. In which, 26.67%(4/15) fetuses had additional ocular defects, and 66.67%(10/15) were diagnosis with extrocular defects, including 20.00%(3/15) with central nervous system defects, 13.33%(2/15) with orofacial defects, 26.67%(4/15) with cardiac defect, 13.33%(2/15) with limb defect, 33.33%(2/15) with urogenital defect and 40.00%(6/15) with abnormal ultrasonographic soft markers. And the proportion of fetal microphthalmia associated extrocular defects showed no significant difference(P=0.502). Conclusions Fetal microphthalmia is frequently associated with random and sporadic occurrence of extrocular defects.

关 键 词：超声检查 产前诊断 小眼畸形 合并畸形 

分 类 号：R44[医药卫生—诊断学] R714[医药卫生—临床医学]