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Genetic Disorders Detectable by Fetal MRI: A Review
Kwok Chun Wong1, Tsz Ho Chow2, Claudia Cheung1
1Department of Radiology, Hong Kong Children's Hospital, Kowloon Bay, Hong Kong.
Diagnostics (Basel, Switzerland)
|April 14, 2026
Summary
Fetal MRI offers detailed structural insights for congenital anomalies. Combining fetal MRI with genetic testing improves prenatal diagnosis and management of genetic disorders affecting multiple organ systems.
Area of Science:
- Medical Imaging
- Genetics
- Prenatal Diagnosis
Background:
- Fetal MRI provides crucial structural data for congenital anomaly assessment.
- Genetic disorders pose significant risks, necessitating multidisciplinary perinatal management.
- Advances in fetal MRI and genetic testing enhance prenatal diagnosis.
Purpose of the Study:
- To systematically review fetal MRI applications in genetic disorders.
- To cover fetal MRI's role in central nervous system, craniofacial, skeletal, lung, and urinary system genetic disorders.
- To highlight the importance of understanding genetic and imaging phenotypes for improved perinatal care.
Main Methods:
- Narrative review of current literature.
- Consolidation of studies on fetal MRI and genetic disorders.
- Systematic overview of imaging phenotypes and genetic bases.
Main Results:
- Fetal MRI is increasingly utilized for diagnosing congenital anomalies.
- Integration of fetal MRI with genetic testing advances prenatal diagnosis.
- Review covers diverse organ systems affected by genetic disorders.
Conclusions:
- Fetal MRI is a valuable tool in the prenatal diagnosis of genetic disorders.
- Understanding genetic and imaging phenotypes is key for effective perinatal management and counseling.
- Multidisciplinary approaches integrating fetal MRI and genetic testing are essential for optimizing infant outcomes.
Keywords:
chromosomal abnormalitiescongenital anomaliescongenital malformationsfetal MRIgenetic disordersgeneticsprenatal diagnosisMore Related Videos
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