Prenatal diagnosis of fetal skeletal dysplasias by combining two-dimensional and three-dimensional ultrasound and intrauterine three-dimensional helical computer tomography
Abstract
OBJECTIVE: To evaluate the contribution of new imaging techniques in the prenatal diagnosis of skeletal dysplasia. METHODS: Between May and October 2003, a prospective study was conducted in a single referral center. Three-dimensional ultrasound (3D-US) and three-dimensional helical computer tomography (3D-HCT) were performed after two-dimensional ultrasound (2D-US) in six cases of skeletal dysplasia. Diagnostic accuracy and detailed findings with each of the three techniques were compared with postnatal radiological findings. RESULTS: There were three cases of achondroplasia, two cases of osteogenesis imperfecta type II and one case of chondrodysplasia punctata. Termination of pregnancy was performed in five cases and one fetus with osteogenesis imperfecta type II was delivered at term by Cesarean section. 2D-US made the correct diagnosis in four cases. 3D-US and 3D-HCT achieved an accurate diagnosis in all six cases. 3D-HCT and 3D-US identified significantly more abnormalities than did 2D-US (3D-HCT: 94.3% (33/35); 3D-US: 77.1% (27/35); 2D-US: 51.4% (18/35); P < 0.01). The diagnosis was made between 27 and 36 weeks' gestation in all cases. The advantage of 3D-HCT over 3D-US was the possibility of imaging the entire fetus. CONCLUSION: 3D-US and 3D-HCT seem to be useful complementary methods to 2D-US, and may improve accuracy of the prenatal diagnosis of skeletal disorders. These new imaging technologies may have a role in the prenatal multidisciplinary approach to the diagnosis of skeletal dysplasias.
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Thoracic wall is a key structure on fetal ultrasound examinations to detect and estimate congenital abnormalities.
“Thoracic wall is a key structure on fetal ultrasound examinations to detect and estimate congenital abnormalities.”
From Model-Agnostic Method for Thoracic Wall Segmentation in Fetal Ultrasound Videos (2020) · cites this paper as [33]
A small thoracic circumference is present in cases of skeletal dysplasia with narrow thorax.
“a small thoracic circumference is present in cases of skeletal dysplasia with narrow thorax [33]”
From Model-Agnostic Method for Thoracic Wall Segmentation in Fetal Ultrasound Videos (2020) · cites this paper as [33]
The variation of the thoracic wall shape indicates some congenital abnormalities.
“the variation of the thoracic wall shape indicates some congenital abnormalities.”
From Model-Agnostic Method for Thoracic Wall Segmentation in Fetal Ultrasound Videos (2020) · cites this paper as [33]
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Model-Agnostic Method for Thoracic Wall Segmentation in Fetal Ultrasound Videos
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- Authors
- Ruano, R., Molho, M., Roume, J., & Ville, Y.
- Affiliations
- Université de Versailles Saint-Quentin-en-Yvelines (FR)
- Corresponding author
- Ville, Y.
- Venue
- Ultrasound in Obstetrics & Gynecology
- Publisher
- Wiley
- Published
- 2004-07-27
- Volume
- 24
- Issue
- 2
- Pages
- 134-140
- ISSN
- 0960-7692 (ISSN-L)
- 1469-0705
- OpenAlex
- W1967695449
- Cited by
- 162
- References
- 20
- Citations by year
- 2026: 2 · 2024: 4 · 2023: 4 · 2022: 5 · 2021: 8 · 2020: 5 · 2019: 4 · 2018: 4 · 2017: 7 · 2016: 7 · 2015: 11 · 2014: 16 · 2013: 8 · 2012: 10
- FWCI
- 8.83
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Ultrasound in Obstetrics and Gynecology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
- Keywords
- prenatal diagnosis, fetal skeletal dysplasia, 3D ultrasound, two-dimensional ultrasound, achondroplasia, osteogenesis imperfecta type II, chondrodysplasia punctata, diagnostic accuracy, abortion, fetal imaging
- MeSH terms
- Chondrodysplasia Punctata, Female, Fetal Diseases, Humans, Musculoskeletal Abnormalities, Osteogenesis Imperfecta, Pregnancy, Prenatal Diagnosis, Prospective Studies, Radiography, Ultrasonography, Prenatal, Imaging, Three-Dimensional
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