Krakow D, Williams J, Poehl M, Rimoin D L, Platt L D
Department of Obstetrics and Gynecology, Ahmanson Department of Pediatrics, Burns and Allen Cedars-Sinai Research Institute, Los Angeles, California, USA.
Ultrasound Obstet Gynecol. 2003 May;21(5):467-72. doi: 10.1002/uog.111.
Recognition of prenatal-onset skeletal dysplasias has improved with advances in ultrasound imaging. Skeletal abnormalities can be recognized by two-dimensional (2D) ultrasound, but generating a precise diagnosis can be challenging. We aimed to determine whether three-dimensional (3D) imaging conferred any advantages over 2D imaging in these cases.
We studied five women with fetuses of 16-28 gestational weeks referred for abnormal ultrasound skeletal findings. First 2D and then 3D sonography was performed and the results compared.
The pregnancies resulted in the following skeletal dysplasias: thanatophoric dysplasia, achondrogenesis II/hypochondrogenesis, achondroplasia, chondrodysplasia punctata (rhizomelic form) and Apert's syndrome. For all five fetuses, the correct diagnosis was made in the prenatal period by analysis of the 2D images. In each case the 3D images confirmed the preliminary diagnosis and for many findings it improved the visualization of the abnormalities.
The 3D imaging had advantages over the 2D imaging when it came to evaluation of facial dysmorphism, relative proportion of the appendicular skeletal elements and the hands and feet. Most importantly, the patient and referring physician appreciated the 3D images of the abnormal findings more readily which aided in counseling and management of the pregnancy.
随着超声成像技术的进步，产前骨骼发育异常的识别能力有所提高。二维（2D）超声可识别骨骼异常，但做出精确诊断可能具有挑战性。我们旨在确定在这些病例中，三维（3D）成像相对于2D成像是否具有任何优势。
我们研究了5名妊娠16 - 28周、因超声检查发现骨骼异常而转诊的孕妇。先进行2D超声检查，然后进行3D超声检查，并比较结果。
这些妊娠分别导致了以下骨骼发育异常：致死性骨发育不全、II型软骨生成不全/低软骨生成、软骨发育不全、点状软骨发育不良（肢根型）和阿佩尔综合征。对于所有5例胎儿，通过分析2D图像在产前做出了正确诊断。在每种情况下，3D图像均证实了初步诊断，并且对于许多发现，它改善了异常情况的可视化效果。
在评估面部畸形、附属骨骼元素以及手和脚的相对比例时，3D成像比2D成像具有优势。最重要的是，患者和转诊医生更容易理解异常发现的3D图像，这有助于妊娠咨询和管理。
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