Department of Obstetrics and Gynecology, National Cheng Kung University Medical College and Hospital, Tainan, Taiwan.
Taiwan J Obstet Gynecol. 2012 Sep;51(3):387-92. doi: 10.1016/j.tjog.2012.07.012.
Fetal osteogenesis imperfecta (OI) is a heterogeneous group of collagen disorders characterized by bone fragility, blue sclerae, deafness, and dentinogenesis imperfecta. Ultrasonography is acknowledged as a reliable diagnostic modality for the prenatal diagnosis of OI, especially type II. In the past, two-dimensional (2D) ultrasound (US) has been applied as the mainstay of prenatal diagnosis of OI. In this series, we report our work of detecting OI using three-dimensional (3D) US.
We reviewed our computer database of prenatal diagnosis of OI at the National Cheng Kung University Hospital from April 1996 to July 2010. All the cases were scanned by 2D and 3D US. In total, six cases of fetal OI were diagnosed.
Compared with 2D US, 3D US can detect fetal OI precisely, and provide additional vivid illustration after various modes of reconstruction that 2D US cannot.
In conclusion, 3D US may contribute significantly to the detection of OI in utero and provide a novel visual depiction of this defect after reconstruction. The technique may thus substantially assist in prenatal diagnosis as well as consultations for fetal OI.
胎儿型成骨不全症（OI）是一种胶原代谢障碍的异质性疾病，其特征为骨骼脆弱、巩膜蓝色、耳聋和牙本质发育不全。超声检查被公认为 OI 产前诊断的可靠手段，尤其是 II 型。过去，二维（2D）超声（US）一直是 OI 产前诊断的主要方法。在本系列中，我们报告了使用三维（3D）US 检测 OI 的工作。
我们回顾了 1996 年 4 月至 2010 年 7 月在国立成功大学医院进行的 OI 产前诊断的计算机数据库。所有病例均经 2D 和 3D US 扫描。共诊断出 6 例胎儿 OI。
与 2D US 相比，3D US 可以更精确地检测胎儿 OI，并在 2D US 无法提供的各种重建模式下提供更生动的图像。
总之，3D US 可显著提高 OI 的宫内检出率，并在重建后提供该缺陷的新的直观描述。该技术可显著辅助 OI 的产前诊断和咨询。
