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中华医学超声杂志(电子版) ›› 2017, Vol. 14 ›› Issue (05) : 373 -379. doi: 10.3877/cma.j.issn.1672-6448.2017.05.009

所属专题: 文献

妇产科超声影像学

胎儿耳廓畸形的产前超声诊断研究
陈绍琦1,(), 李雪影1, 张晓红1, 伍秋林1, 邱舜敏1   
  1. 1. 515041 汕头大学医学院第一附属医院超声科
  • 收稿日期:2016-05-23 出版日期:2017-05-01
  • 通信作者: 陈绍琦
  • 基金资助:
    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)

Prenatal ultrasound diagnosis of fetal ear auricle abnormalities

Shaoqi Chen1,(), Xueying Li1, Xiaohong Zhang1, qiulin Wu1, Shunmin Qiu1   

  1. 1. Department of Ultrasound, the First Affiliated Hospital of Shantou University Medical College, Shantou 515041, China
  • Received:2016-05-23 Published:2017-05-01
  • Corresponding author: Shaoqi Chen
  • About author:
    Corresponding author: Chen Shaoqi, Email:
引用本文:

陈绍琦, 李雪影, 张晓红, 伍秋林, 邱舜敏. 胎儿耳廓畸形的产前超声诊断研究[J/OL]. 中华医学超声杂志(电子版), 2017, 14(05): 373-379.

Shaoqi Chen, Xueying Li, Xiaohong Zhang, qiulin Wu, Shunmin Qiu. Prenatal ultrasound diagnosis of fetal ear auricle abnormalities[J/OL]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2017, 14(05): 373-379.

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.

图1,2 孕31周正常胎儿双侧耳廓二维超声声像图。图1示左侧耳廓长27.7 mm;图2示右侧耳廓长27.3 mm;图中红色箭头示耳廓,*标注处为胎儿耳廓长度测量;以耳轮最顶点至耳垂最低点为胎儿耳廓长度
图6~8 孕26周胎儿产前二维超声声像图及产后新生儿耳廓外观图。图6二维超声声像图示胎儿右侧耳廓短小形态异常;图7左侧耳廓正常;图8产后检查新生儿右侧耳廓小,形态失常(箭头所示),外耳道闭锁
图11,12 孕31周胎儿双侧耳廓缺失合并双侧无眼畸形产前超声声像图。图11二维超声显示胎儿双侧眼眶内不能探及眼球所形成的圆形无回声区;图12三维超声显示胎儿无耳廓
表1 11例耳廓畸形胎儿染色体核型分析结果(例数)
表2 11例耳廓畸形胎儿产前超声异常表现、合并其他结构异常检查结果及临床结局
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