胎儿耳廓畸形的产前超声诊断研究  

Prenatal ultrasound diagnosis of fetal ear auricle abnormalities

作　　者：陈绍琦[1] 李雪影[1] 张晓红[1] 伍秋林[1] 邱舜敏 

机构地区：[1]汕头大学医学院第一附属医院超声科,515041

出　　处：《中华医学超声杂志（电子版）》2017年第5期373-379,共7页Chinese Journal of Medical Ultrasound(Electronic Edition)

基　　金：广东省普通高校青年创新人才项目(2015KQNCX048);广东省医学科研基金项目(A2015566)

摘　　要：目的探讨胎儿耳廓畸形产前超声声像图特征。方法对2012年2月至2015年12月汕头大学医学院第一附属医院来院产前超声检查的6239例胎儿行双耳冠状面及矢状面仔细扫查,并对11例耳廓畸形胎儿的超声表现及产后检测结果进行总结分析。结果 11例耳廓畸形胎儿产前超声检查提示小耳畸形7例,耳低位3例,无耳畸形1例。产前超声及产后检查证实11例耳廓畸形胎儿同时伴发颅脑(3例)、颜面(5例)、心脏(5例)、肢体(3例)等多种结构异常;其中7例行脐血染色体检查,发现6例异常(21-三体2例,13-三体1例,18-三体2例,染色体22q11异常1例)。与产后颜面部检查对照,产前超声正确诊断胎儿耳廓畸形10例,漏诊小耳畸形1例。结论胎儿耳廓产前超声显示较困难,目前超声筛查规范中未将胎耳检查列入其中,但由于部分胎儿耳廓发育异常与染色体异常有关,因此,发现胎儿耳廓形态异常应仔细检查有无合并其他相关畸形,并可提示临床进行染色体检查。Objective The purpose of this study was to assess the value of prenatal ultrasound diagnosis for fetal ear auricle malformations. Methods The coronal and sagittal planes of fetuses ears were obtained prospectively in 6239 singleton fetuses in the First Affiliated Hospital of Shantou University Medical College for the period from 2012 February to 2015 December, the ultrasound images and pregnancy outcomes were analyzed in 11 cases of fetuses ear auricle malformations diagnosed prenatally. Results Eleven Cases of fetuses ear auricle malformations include with 7 cases of microtia, 3 cases of low-set ears and 1 case of anotia. Eleven cases were combined with other structural malformations were as followings, 3cases with craniocerebral congenital malformation, 5 cases with dentofacial deformity, 5 cases with malformation of heart, 3 cases with limb deformity. Cordocentesis was performed in 7 cases among which 6 with abnormal karyotype, including 2 cases of trisomy 21, 2 cases of trisomy 13, 2 cases of trisomy 18, 1 case of 22q11 abnormalities. Compared with the postpartum facial examination, prenatal ultrasound correctly diagnosed 10 cases of fetal ear auricle malformations, missed diagnosis 1 case of microtia. Conlusions Fetus with ear auricle abnormalities have characteristic prenatal ultrasound imaging; prenatal ultrasonography can provide reliable information in the diagnosis of this disease. This study suggests that antenatal ear auricle length measurements might be a promising sonographic screening method for the detection of abnormal karyotype in pregnancy.

关 键 词：超声检查 产前 胎儿 耳廓 先天畸形 

分 类 号：R445.1[医药卫生—影像医学与核医学] R714.5[医药卫生—诊断学]