Abstract
BackgroundFetal skeletal dysplasia (FSD) comprises a complex group of systemic bone and cartilage disorders. Many FSD phenotypes have indistinct definitions, making definitive prenatal diagnosis difficult. The condition 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 in the prenatal diagnosis of FSD by comparing the diagnostic accuracy of fetal sonography and 3D-CT.MethodsOn suspicion of FSD based on ultrasound examination, we performed 3D-CT prenatally to obtain detailed skeletal information on FSD. To minimize exposure of the fetuses to radiation without compromising image quality, we used predetermined 3D-CT settings for volume acquisition.ResultsNineteen fetuses were suspected of having skeletal dysplasia based on ultrasonography findings. Of these, 17 were diagnosed with FSD using 3D-CT. All 17 fetuses diagnosed with FSD prenatally were confirmed postnatally to have the condition. The postnatal diagnosis (campomelic dysplasia) differed from the prenatal diagnosis (osteogenesis imperfecta) in only one infant. Sixteen cases (94.1%) were diagnosed both prenatally and postnatally with FSD. 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.Conclusions3D-CT is a valuable tool for augmenting ultrasound examinations in the diagnosis of FSD. While improving the diagnostic tool of sonography is essential in cases of suspected FSD, 3D-CT imaging is indispensable for diagnosis and classification, enabling better planning for resuscitation of the infant after birth.Trial registrationUniversity Hospital Medical Information Network (UMIN) Center trial registration number is UMIN000034744. Registered 1 October, 2018 – Retrospectively registered.
Highlights
Fetal skeletal dysplasia (FSD) comprises a complex group of systemic bone and cartilage disorders
Fetal ultrasonography is the most standard method to detect FSD; it is unsuitable for the analysis of the skeleton because supersonic waves reflect it with the bone cortex
Considering the increased risk associated with the radiation introduced by this clinically beneficial method, we elected to use low-dose Three-dimensional computed tomography (3D-CT) for prenatal diagnosis in this study
Summary
Fetal skeletal dysplasia (FSD) comprises a complex group of systemic bone and cartilage disorders. The condition is typically diagnosed using sonography; three-dimensional computed tomography (3D-CT) aids in making a prenatal diagnosis. This study aimed to examine the efficacy of 3D-CT in the prenatal diagnosis of FSD by comparing the diagnostic accuracy of fetal sonography and 3D-CT. Fetal skeletal dysplasia (FSD) is a group of systemic bone and cartilage disorders that develops prenatally and may be detected by fetal ultrasonography. In 2004, Ruano et al reported that fetal 3D-CT was a useful diagnostic method, complementary to ultrasonography, and may improve the diagnostic accuracy of skeletal disorders [5]. This study aimed to determine the efficacy of 3D-CT in the prenatal diagnosis of FSD by comparing the prenatal and postnatal diagnoses in patients with this condition
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
