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中华医学超声杂志（电子版）

中华医学超声杂志（电子版） ›› 2016, Vol. 13 ›› Issue (06) : 446 -452. doi: 10.3877/cma.j.issn.1672-6448.2016.06.010

所属专题： 妇产科超声影像学； 产前超声； 文献； 妇产科超声；

妇产科超声影像学

先天性半月瓣缺如产前超声诊断分析
余蓉1, 李胜利2,†(), 田晓先3, 文华轩1, 欧阳淑媛4, 陈琮瑛1, 毕静茹1, 袁鹰1, 郑琼1   
  1. 1. 518028　南方医科大学附属深圳市妇幼保健院超声科
    2. 518100　南方医科大学深圳医院超声科
    3. 530000　广西壮族自治区妇幼保健院超声科
    4. 518028　南方医科大学附属深圳市妇幼保健院中心实验室
  • 收稿日期:2016-04-18 出版日期:2016-06-01
  • 通信作者: 李胜利
  • 基金资助:
    国家自然科学基金面上项目(81270707); 2011年深圳市重点科技计划项目(201103203)

Prenatal diagnosis of congenital absence of semilunar vavle

Rong Yu1, Shengli Li2,†(), Xiaoxian Tian3, Huaxuan Wen1, Shuyan Ouyang4, Congying Chen1, Jingru Bi1, Ying Yuan1, Qiong Zheng1   

  1. 1. Department of Ultrasound, Shenzhen Maternity & Child Healthcare Hospital, Affiliated to Southern Medical University, Shenzhen 518028 China
    2. Department of Ultrasound, Shenzhen Hospital of Southern Medical University, Shenzhen 518100, China
    3. Department of Ultrasound, Guangxi Magernity & Child Healthcare Hospital, Nanning 530000, China
    4. Department of Central Laboratory, Shenzhen Maternity & Child Healthcare Hospital, Affiliated to Southern Medical University, Shenzhen 518028, China
  • Received:2016-04-18 Published:2016-06-01
  • Corresponding author: Shengli Li
  • About author:
    Corresponding author: Li Shengli, Email:
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引用本文：

余蓉, 李胜利, 田晓先, 文华轩, 欧阳淑媛, 陈琮瑛, 毕静茹, 袁鹰, 郑琼. 先天性半月瓣缺如产前超声诊断分析[J]. 中华医学超声杂志（电子版）, 2016, 13(06): 446-452.

Rong Yu, Shengli Li, Xiaoxian Tian, Huaxuan Wen, Shuyan Ouyang, Congying Chen, Jingru Bi, Ying Yuan, Qiong Zheng. Prenatal diagnosis of congenital absence of semilunar vavle[J]. Chinese Journal of Medical Ultrasound (Electronic Edition), 2016, 13(06): 446-452.

目的

探讨胎儿先天性半月瓣缺如产前超声声像图特征。

方法

对2010年1月至2015年12月孕11~13＋6周在深圳市妇幼保健院和广西壮族自治区妇幼保健院产前超声检出半月瓣缺如的41例胎儿超声心动图像特征及临床结局进行总结分析。

结果

41例半月瓣缺如胎儿中肺动脉瓣缺如28例（68.2%），主动脉瓣缺如1例（2.4%）；肺动脉瓣联合主动脉瓣缺如12例（29.4%）。早孕期超声检出胎儿半月瓣缺如21例（51.2%），其中肺动脉瓣联合主动脉瓣缺如均于早孕期超声心动图检出。二维超声显示20例胎儿颈项透明层（NT）增厚，1例胎儿因合并颅脑及神经管畸形NT值正常，15例合并胎儿水肿，6例合并颈部水囊瘤，16例心脏增大；超声心动图表现为三血管气管观可动态观察到主动脉和（或）肺动脉红蓝交替往返血流信号，即"进出征"。中孕期超声检出胎儿半月瓣缺如20例（48.8%），二维超声显示胎儿合并心外畸形6例。超声心动图多表现为主动脉和（或）肺动脉扩张，瓣环内无明显瓣叶启闭。超声随访过程中3例胎死宫内（均为肺动脉瓣联合主动脉瓣缺如）；38例胎儿母亲选择性引产，全组均无存活病例。引产后尸检诊断与产前超声检查结果一致。

结论

先天性半月瓣缺如胎儿有特征性产前超声表现，早孕期发现颈项透明层增厚，三血管气管观显示主动脉和（或）肺动脉红蓝交替往返血流信号，即有典型"进出征"等图像特征，可早期诊断本病。

关键词: 超声检查，产前, 胎儿, 心脏病, 先天畸形
Objective

To describe the sonographic features of congenital absence of semilunar valve.

Methods

Forty-one cases of congenital absence of semilunar vavle diagnosed by prenatal ultrasound were identified within an established perinatal database in Shenzhen Maternity & Child Healthcare Hospital Affiliated to Southern Medical University from January 2010 to December 2015. The ultrasound and pathological examinations and prenatal outcomes were retrospectively reviewed. Comparative analysis was performed on autopsy with prenatal ultrasonograpgy.

Results

There were a total of forty-one cases of congenital absent semilunar valve. Among them, there were 28 cases of absent pulmonary valves (68.2%, 28/41), 12 cases of absent pulmonary valves and absent aortic valves (29.4%, 12/41), and 1 case of isolate absent aortic valves cases (2.4%, 1/41). There were 21 cases (51.2%) diagnosed by first trimester fetal echocardiograms. A total of 12 cases of absent pulmonary valves and absent aortic valves were detected in the first trimester. Two-dimension (2D) sonographic features of congenital absent semilunar valve at the first trimester include increased nuchal translucency (NT) thickness (20 cases), only 1 case with the brain malformations and neural tube defects had normal nuchal translucency, generalized edema (15 cases), cervical cystic hygroma (6 cases), enlarged heart (16 cases). First trimester fetal echocardiograms showed ?to-and-fro? sign in the great artery at the three vessels and trachea view. There were 20 cases were diagnosed by the second trimester. Six cases were associated with other additional extracardiac abnormality. Fetal echocardiograms showed dilated great artery with complete absence of the aortic/pulmonary valve. No fetus survived in our study. Of the 41 cases, 3 cases had intrauterine death and 38 cases underwent elective termination. Autopsy confirmed the prenatal diagnosis.

Conclusions

Congenital absent semilunar valve have characteristic ultrasound features. Increased NT thickness and ?to-and-fro? sign is very helpful in diagnosing the congenital absence of semilunar vavle at the first trimester.

Key words: Ultrasonography, prenatal, Fetus, Heart diease, Anomaly
图1~4 孕24＋6周胎儿先天性主动脉瓣缺如产前超声声像图。图1四腔观示左心房明显增大压迫右心房，左、右肺静脉起始部明显扩张成为左心房的一部分；图2　左心室流出道长轴观示舒张期主动脉血流反流入左心室，反流束宽度与主动脉瓣口宽度一致；图3　左心室流出道观示主动脉瓣附着处未见明显瓣叶启闭运动，彩色多普勒血流成像示升主动脉内无明显前向血流，收缩期二尖瓣左心房侧大量反流信号达左心房底部；图4　频谱多普勒示收缩期二尖瓣口反流血流流速曲线
图5~7 孕12＋6周胎儿先天性主动脉瓣及肺动脉瓣缺如产前超声声像图。图5，6彩色多普勒超声三血管气管观示收缩期主动脉和肺动脉前向血流，全舒张期主动脉和肺动脉内反向血流，即"进出征"；图7　频谱多普勒超声心动图示肺动脉"双期双向"血流频谱
图8~10 先天性半月瓣缺如胎儿引产后心脏标本解剖图。图8孕24＋6周先天性主动脉瓣缺如胎儿引产后心脏大体标本示主动脉瓣环处无瓣叶附着，箭头所示冠状动脉开口；图9　孕12＋6周先天性主动脉瓣及肺动脉瓣缺如胎儿引产后心脏电子显微解剖高倍视野外观图示主动脉瓣及肺动脉瓣均缺如；图10　孕24＋6周先天性主动脉瓣缺如胎儿引产后心脏大体标本解剖图示左心室内膜弥漫性增厚及纤维化改变
表1 41例半月瓣缺如胎儿产前超声检出结果（例数）
半月瓣缺如类型 早孕期诊断 晚孕期诊断 合计
肺动脉瓣缺如 9 19 28
主动脉瓣缺如 0 1 1
肺动脉瓣合并主动脉瓣缺如 12 0 12
合计 21 20 41
表2 41例半月瓣缺如胎儿产前超声检出合并畸形及胎儿临床结局
超声诊断孕周（周） 例数 合并畸形种类 临床结局
早孕期诊断（12.0±0.7周） ? ? ?
? 合并心内畸形 14 室间隔缺损7例，房室间隔缺损4例，左心发育不良1例，右心室双出口1例，单心室1例 胎死3例
? 合并心外畸形 20 全身水肿15例，颈部水囊瘤6例，脐膨出3例，肢体异常2例，全前脑2例，胸腔积液2例，联体双胎1例，脊柱裂1例，腹裂1例
中晚孕期诊断（25.2±4.8周） ? ? ?
? 合并心内畸形 20 室间隔缺损7例，法洛四联症8例，右位主动脉弓7例，右心发育不良4例，肺动脉瓣狭窄6例，左心发育不良1例，右心室双出口2例，Ebstein畸形1例，肺静脉异位引流1例，心内膜弹力纤维增生症1例 引产38例?
? 合并心外畸形 6 颅脑畸形1例，肢体畸形1例，唇腭裂2例，永久性右脐静脉1例，单脐动脉1例
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