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Background: Fetal skeletal dysplasia constitutes a complex group of systemic bone and cartilage disorders. Many fetal skeletal dysplasia phenotypes have indistinct definitions, making definitive prenatal diagnosis difficult. Fetal skeletal dysplasia is typically diagnosed using sonography; however, three-dimensional computed tomography (3D-CT) also aids in making a prenatal diagnosis. This study aimed to examine the efficacy of 3D-CT for the prenatal diagnosis of fetal skeletal dysplasia by comparing the diagnostic accuracy of fetal sonography and 3D-CT.Methods: Based on the suspicion of skeletal dysplasia based on ultrasound examination, we performed 3D-CT prenatally to confirm this diagnosis. In order to minimize exposure of the fetuses to radiation without compromising image quality, we used predetermined 3D-CT settings for volume acquisition.Results: Sixteen fetuses were suspected to have fetal skeletal dysplasia based on ultrasonography findings. Of these, 15 were diagnosed with fetal skeletal dysplasia using 3D-CT. All 15 fetuses diagnosed with fetal skeletal dysplasia prenatally were confirmed postnatally to have fetal skeletal dysplasia. The definitive postnatal diagnosis (campomelic dysplasia) differed from the prenatal diagnosis (osteogenesis imperfecta) in only one infant. 14 cases (93.3%) were diagnosed by an accyrate classification. Five infants had lethal skeletal dysplasia; one died in utero, and four died as neonates. We determined the appropriate delivery method for each infant based on the prenatal diagnosis.Conclusion: 3D-CT is a valuable tool to augment ultrasound examination for the diagnosis of skeletal dysplasia because it can provide a more definitive diagnosis of the type of dysplasia, enabling better planning for resuscitation of the infant after birth.Trial registration: University Hospital Medical Information Network (UMIN) Center trial registration number is UMIN000034744. Registered 1 October, 2018 – Retrospectively registered, https://upload.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=Roooo39610. |
