ArticleBMC musculoskeletal disorders2020
Prenatal diagnosis of fetal skeletal dysplasia using 3-dimensional computed tomography: a prospective study.
Article in BMC musculoskeletal disorders, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- Reviewing hereditary connective tissue disorders: Proposals of harmonic medicolegal assessments.International journal of legal medicine · 2024Pooled it
- Three-Dimensional, Image-Based Evaluation of the L5 Vertebral Body and Its Ossification Center in Human Fetuses.Brain sciences · 2025Article
- CT Morphometric Analysis of Ossification Centres in the Fetal Th12 Vertebra.Brain sciences · 2025Article
- Article
- The Role of Prenatal Ultrasound and Added Value of Post-Mortem Radiographic Imaging With X-Ray and CT in Suspected Fetal Skeletal Dysplasia.Prenatal diagnosis · 2025Article
- Prenatal diagnosis of achondroplasia and hypochondroplasia using three-dimensional computed tomography: a case series at a single institution.Quantitative imaging in medicine and surgery · 2024Article
- The clinical management of children with achondroplasia in Italy: results of clinician and parent/caregiver surveys.Journal of endocrinological investigation · 2024Article
- Accuracy of Multimodality Fetal Imaging (US, MRI, and CT) for Congenital Musculoskeletal Anomalies.Children (Basel, Switzerland) · 2023Article
- Classification of osteogenesis imperfecta: Importance for prophylaxis and genetic counseling.World journal of clinical cases · 2023Review
- Current Overview of Osteogenesis Imperfecta.Medicina (Kaunas, Lithuania) · 2021Review
- An immunohistochemical study of thanatophoric dysplasia type 1 after fetus autopsy examination.Congenital anomaliesArticle
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6 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
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.
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