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Updated: Jan 3, 2026
Murine Fetal Echocardiography
Published on: February 15, 2013
Fetal magnetic resonance imaging of skeletal dysplasias
Leah A Gilligan1, Maria A Calvo-Garcia2,3, K Nicole Weaver4,5
1Department of Radiology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave., MLC 5031, Cincinnati, OH, 45229, USA. leah.gilligan@mchs.com.
Background:
Fetal magnetic resonance imaging (MRI) is obtained for prenatal diagnosis and prognostication of skeletal dysplasias; however, related literature is limited.
Objective:
The purpose of this study was to define the utility of fetal MRI for skeletal dysplasias and to report MRI findings associated with specific diagnoses.
Materials And Methods:
This retrospective study was approved by the institutional review board; informed consent was waived. Women referred for suspected fetal skeletal dysplasia who underwent MRI between January 2003 and December 2018 were included. Definitive diagnoses were determined by genetic testing, autopsy, physical examination and/or postnatal/postmortem imaging. Fetal MRI examinations and reports were reviewed. Descriptive statistics were used to summarize imaging findings.
Results:
Eighty-nine women were referred for fetal MRI for possible skeletal dysplasia. Forty-three (48%) were determined to have a diagnosis other than skeletal dysplasia and nine were excluded for lack of specific skeletal dysplasia diagnosis. Thirty-seven cases of skeletal dysplasia with available fetal MRI and specific diagnosis were included for analysis. Diagnoses included achondrogenesis (n=2), achondroplasia (n=5), Boomerang dysplasia (n=1), campomelic dysplasia (n=2), Jeune syndrome (n=1), Kniest dysplasia (n=1), osteogenesis imperfecta (n=15) and thanatophoric dysplasia (n=10). A specific skeletal dysplasia diagnosis was mentioned in 17/37 (46%) of MRI imaging reports and correct for 14/17 (82%). MRI findings were reported for each specific skeletal dysplasia diagnosis.
Conclusion:
Fetal MRI is a useful diagnostic tool for skeletal dyplasias and excluded the diagnosis in nearly half of referred pregnancies. In addition to providing fetal lung volumes, fetal MRI demonstrates findings of the brain in achondroplasia and thanatophoric dysplasia, of the spine in achondroplasia and achondrogenesis, of the calvarium in osteogenesis imperfecta and thanatophoric dysplasia, and of the cartilage in Kniest dysplasia.
Insights
Fetal magnetic resonance imaging (MRI) aids in diagnosing skeletal dysplasias, correctly identifying conditions in many cases and excluding them in others. This imaging technique provides valuable prenatal diagnostic information for skeletal dysplasias.
Area of Science:
- Medical Imaging
- Prenatal Diagnosis
- Skeletal Dysplasias
Background:
- Literature on fetal magnetic resonance imaging (MRI) for skeletal dysplasias is limited.
- Fetal MRI is utilized for prenatal diagnosis and prognostication of skeletal dysplasias.
Purpose of the Study:
- To define the utility of fetal MRI in diagnosing skeletal dysplasias.
- To report MRI findings associated with specific skeletal dysplasia diagnoses.
Main Methods:
- Retrospective study of women referred for suspected fetal skeletal dysplasia undergoing MRI (2003-2018).
- Definitive diagnoses confirmed by genetic testing, autopsy, or postnatal imaging.
- Fetal MRI examinations and reports were reviewed; descriptive statistics summarized findings.
Main Results:
- 37 cases of skeletal dysplasia with confirmed diagnoses were analyzed.
- Specific diagnoses included achondrogenesis, achondroplasia, osteogenesis imperfecta, and thanatophoric dysplasia, among others.
- Fetal MRI reports mentioned specific skeletal dysplasia diagnoses in 46% of cases and were correct in 82% of those instances.
Conclusions:
- Fetal MRI is a valuable diagnostic tool for skeletal dysplasias, effectively excluding the diagnosis in nearly half of referred pregnancies.
- MRI findings provide specific details, including brain, spine, calvarium, and cartilage abnormalities, aiding in diagnosis.
- The study highlights the utility of fetal MRI in the prenatal evaluation of skeletal dysplasias.
