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Fetal skeletal dysplasia: an approach to diagnosis with illustrative cases
Manjiri Dighe1, Corinne Fligner, Edith Cheng
1Department of Radiology, University of Washington Medical Center, 1959 NE Pacific St, BB308, Box 357115, Seattle, WA 98195, USA. dighe@u.washington.edu
Insights
Diagnosing fetal skeletal dysplasia in utero is challenging due to numerous conditions and overlapping features. Advanced imaging like 3D ultrasonography aids in improving diagnostic accuracy for these complex bone growth disorders.
Area of Science:
- Medical Imaging
- Genetics
- Pediatrics
Background:
- Skeletal dysplasias encompass diverse congenital disorders affecting fetal bone growth.
- These conditions present significant diagnostic challenges in prenatal settings.
Observation:
- Prenatal diagnosis is complicated by the vast number of skeletal dysplasias, phenotypic variability, and overlapping features.
- Limitations of 2D ultrasonography include inability to provide an integrated view and variable manifestation timing.
- 3D ultrasonography enhances diagnostic accuracy by revealing additional phenotypic features.
Findings:
- Systematic ultrasonography (US) of fetal skeletal structures is crucial for diagnosis.
- Three-dimensional US offers improved detection of subtle phenotypic abnormalities compared to 2D US.
Implications:
- Improved prenatal diagnosis of skeletal dysplasias can guide early management and counseling.
- Multidisciplinary collaboration among radiologists, clinicians, molecular biologists, and pathologists is essential for accurate diagnosis.
Abstract:
Skeletal dysplasias are a heterogeneous group of conditions associated with various abnormalities of the skeleton. These conditions are caused by widespread disturbance of bone growth, beginning during the early stages of fetal development and evolving throughout life. Despite recent advances in imaging, fetal skeletal dysplasias are difficult to diagnose in utero due to a number of factors, including the large number of skeletal dysplasias and their phenotypic variability with overlapping features, lack of precise molecular diagnosis for many disorders, lack of a systematic approach, the inability of ultrasonography (US) to provide an integrated view, and variability in the time at which findings manifest in some skeletal dysplasias. US of suspected skeletal dysplasia involves systematic imaging of the long bones, thorax, hands and feet, skull, spine, and pelvis. Assessment of the fetus with three-dimensional US has been shown to improve diagnostic accuracy, since additional phenotypic features not detectable at two-dimensional US may be identified. The radiologist plays a major role in making an accurate diagnosis; however, representatives of other disciplines, including clinicians, molecular biologists, and pathologists, can also provide important diagnostic information.
