胎儿半椎体畸形的产前超声筛查

Prenatal Ultrasonic Diagnosis of Fetal Hemivertebra

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。

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 sonographie 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.