Quarello E, Roume J, Molho M, Gorincour G, Saada J, Simon I, Bernard J-P, Ville Y
Department of Obstetrics and Gynecology, CHI Poissy St Germain, Poissy, France.
Prenat Diagn. 2008 Jan;28(1):21-7. doi: 10.1002/pd.1896.
Skeletal abnormalities encompass a heterogeneous group of disorders characterized by anomalies of cartilage as well as bone growth and development. Some are lethal and express early during fetal life, making them amenable to prenatal diagnosis. The increasing use of routine ultrasonography (US) during pregnancy permits a reliable primary evaluation of the fetal skeleton. However, when a skeletal dysplasia is suspected, it is more difficult to establish a specific diagnosis. Moreover, detailed ultrasonographic evaluation of the whole fetal skeleton may be limited in some circumstances, especially during the third trimester due to the fetal position and in the case of multiple pregnancies.
Retrospective study of twin pregnancies complicated with skeletal abnormalities.
6 twin pregnancies were reviewed. The prenatal diagnosis was correctly made in 66.66% (4/6) with the primary use of combined 2D and 3D-US. 3D-HCT permits to improve the simultaneous assessment of both fetuses, and is of greater value than US in 16.66% (1/6).
The combined use of 2D or 3D-US with 3D-HCT permits the best imaging evaluation.
骨骼异常包括一组异质性疾病，其特征为软骨以及骨骼生长发育异常。有些骨骼异常是致死性的，且在胎儿期早期就会表现出来，因此适合进行产前诊断。孕期常规超声检查（US）的使用日益增多，使得对胎儿骨骼进行可靠的初步评估成为可能。然而，当怀疑存在骨骼发育异常时，要做出具体诊断则更为困难。此外，在某些情况下，对整个胎儿骨骼进行详细的超声评估可能会受到限制，尤其是在孕晚期，由于胎儿体位以及多胎妊娠的情况。
对合并骨骼异常的双胎妊娠进行回顾性研究。
回顾了6例双胎妊娠。初次使用二维和三维超声联合检查时，66.66%（4/6）的病例做出了正确的产前诊断。三维高分辨率CT能够改善对两个胎儿的同步评估，在16.66%（1/6）的病例中其价值高于超声。
二维或三维超声与三维高分辨率CT联合使用可实现最佳的影像评估。
