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Updated: Jun 5, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
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.
Abstract:
Fetal MRI has been increasingly used in diagnosis and assessment of congenital anomalies and conditions by providing detailed structural information. However, such information is only part of the whole landscape of these genetic disorders. Given that genetic disorders are associated with significant morbidity and mortality in infants, multidisciplinary team management is essential for perinatal management and parental counseling. In the past two decades, there are advances in both fetal MRI and genetic testing for prenatal diagnosis of genetic disorders. This narrative review consolidates the current literature and aims to provide a systematic overview of fetal MRI applications in genetic disorders affecting the central nervous system, craniofacial structures, skeletal system, lungs, and urinary system. Understanding embryological and genetic basis as well as imaging phenotypes of genetic disorders are important in improving perinatal diagnosis and management.
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