胎儿半椎体畸形的产前超声筛查

doi:10.3877/cma.j.issn.1673-5250.2013.06.009

目的

探讨产前超声筛查对胎儿半椎体畸形的诊断价值及临床意义。

方法

选择2009年3月至2013年3月在四川大学华西第二医院建卡进行产前检查和外院超声筛查提示胎儿半椎体畸形来本院会诊的孕妇8例为研究对象，其中单胎妊娠为7例，双胎之一为1例。回顾性分析其胎儿半椎体畸形的资料，总结超声声像图表现特征，并对胎儿磁共振成像(MRI)检查、出生后（引产后）随访结果进行分析（本研究遵循的程序符合四川大学华西第二医院人体试验委员会制定的伦理学标准，得到该委员会批准，并与之签署临床研究知情同意书）。

结果

8例胎儿半椎体畸形的超声表现包括病变椎体回声模糊、冠状切面可见病变椎体楔形变，脊柱侧弯或成角畸形，三维超声能更清晰、直观的显示椎体病变。8例孕妇中，5例进行了胎儿MRI检查，其中4例在本院足月分娩，产前MRI及产后X射线检查均证实了半椎体畸形的诊断，1例早产（未进一步随访另3例在外院引产，产后婴儿外观可见脊柱畸形。

结论

胎儿半椎体畸形的超声声像图具有一定的特征性表现，二维超声联合三维超声检查对其具有较高的诊断准确率，胎儿MRI是重要的验证和补充诊断手段。产前筛查胎儿半椎体畸形对优生优育具有重要的临床意义。

关键词: 超声检查，产前, 胎儿, 磁共振成像, 半椎体

Objective

To investigate the role of ultrasound screening in the prenatal diagnosis of fetal hemivertebra and to verify its clinical value.

Methods

The data of 8 cases of fetal hemivertebra,including 7 cases of monocyesis and 1 case of twins,who were diagnosed by prenatal ultrasound in our hospital during the period from March 2009 to March 2013 were retrospectively analyzed,in order to summarize the ultrasonographic characteristics. Comparison of the results were also made with the fetal magnetic resonance imaging (MRI) findings as well as autopsy or postnatal follow-up findings.

Results

The classic sonographic characteristics of fetal hemivertebra including disruption of the normal spine alignment, wedge vertebrae with half a vertebral body and congenital scoliosis or angulation, which is more visualized and clear on three-dimensional images. Fetal MRI was performed in five cases,out of which four neonates were live born and the diagnosis of hemivertebra was confirmed by both the fetal MRI and postnatal X-rays. One case was premature labor (without follow-up). The remaining pregnancies were terminated in local hospital and macroscopic examination of the abortus revealed the presence of spine malformation.

Conclusions

The sonographic feature of fetal hemivertebra is somewhat typical, which facilitates a high diagnostic accuracy with combination of two- and three-dimensional ultrasound. Antenatal MRI serves to confirm the sonographic findings,as well as offering additional diagnostic information. Prenatal diagnosis of fetal hemivertebra has significant clinical value for improving birth outcomes and child development.

Key words: ultrasonography, prenatal, fetus, magnetic resonance imaging, hemivertebra

表1 8例经超声提示为胎儿半椎体畸形的超声表现及临床资料

Table 1 Sonographic presentation and clinic data of 8 cases of fetal hemivertebra suspected by prenatal ultrasound

编号(No.)	孕龄（孕周）	超声表现	合并畸形
1	24 ⁺	双胎之一脊柱腰段侧凸成角，椎体排列紊乱	无
2	21 ⁺	胎儿脊柱L1椎体呈楔形，略侧凸	无
3	26 ⁺	胎儿脊柱L4~L5椎体呈楔形，排列紊乱	无
4	29 ⁺	胎儿脊柱胸腰段右侧弯，椎间孔变窄	胎儿心脏位置异常、羊水过多
5	32 ⁺	胎儿脊柱S5至第一尾椎椎体排列紊乱（图1, 图2, 图3）	眙儿右肾缺如、单脐动脉
6	不详	胎儿脊柱L1~L2椎体略后凸，排列不整齐	羊水过少
7	24 ⁺	胎儿脊柱L1椎体呈楔形，椎间隙变窄，脊柱向左侧凸	单脐动脉
8	35	胎儿脊柱L5至尾椎末端椎体形态不规则、边缘模糊、排列紊乱，侧凸	胎儿左肾缺如、右肾多囊性肾发育不良、并腿畸形

表1 8例经超声提示为胎儿半椎体畸形的超声表现及临床资料

Table 1 Sonographic presentation and clinic data of 8 cases of fetal hemivertebra suspected by prenatal ultrasound

编号(No.)	孕龄（孕周）	超声表现	合并畸形
1	24 ⁺	双胎之一脊柱腰段侧凸成角，椎体排列紊乱	无
2	21 ⁺	胎儿脊柱L1椎体呈楔形，略侧凸	无
3	26 ⁺	胎儿脊柱L4~L5椎体呈楔形，排列紊乱	无
4	29 ⁺	胎儿脊柱胸腰段右侧弯，椎间孔变窄	胎儿心脏位置异常、羊水过多
5	32 ⁺	胎儿脊柱S5至第一尾椎椎体排列紊乱（图1, 图2, 图3）	眙儿右肾缺如、单脐动脉
6	不详	胎儿脊柱L1~L2椎体略后凸，排列不整齐	羊水过少
7	24 ⁺	胎儿脊柱L1椎体呈楔形，椎间隙变窄，脊柱向左侧凸	单脐动脉
8	35	胎儿脊柱L5至尾椎末端椎体形态不规则、边缘模糊、排列紊乱，侧凸	胎儿左肾缺如、右肾多囊性肾发育不良、并腿畸形

图1 二维超声提示胎儿脊柱椎体呈楔形，排列紊乱

Figure 1 Two-dimensional ultrasound image of the vertebra showing the wedge appearance

图2 三维超声提示病变椎体

Figure 2 Coronal 3-dimensional image showing the affected vertebra

图3 患儿出生后的X射线表现

Figure 3 X-ray image obtained soon after birth

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Prenatal Ultrasonic Diagnosis of Fetal Hemivertebra

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Prenatal Ultrasonic Diagnosis of Fetal Hemivertebra