Genetics of Fetal Disease
The causes of congenital anomalies are genetic and nongenetic. Genetic disorders include chromosomal disorder, single gene (monogenic) disorders, and multifactorial disorders that result from the interaction of multiple genes and environmental factors. There is little experience with fetal magnetic resonance imaging (MRI) and genetic disorders. However, fetal MRI, in addition to sonography and prenatal genetic testing, has been shown to improve prenatal diagnosis of certain genetic disorders in various cases. While its definite role in diagnosis of genetic disorders remains to be determined, fetal MRI is currently mainly used as a second-line prenatal diagnostic method at larger centers. It frequently enables differential diagnosis and determination of the extent of a certain genetic disorder. In cases with suspected genetic disorders where the underlying genetic defect is not known, fetal MRI may be essential to exclude a certain disorder or find a diagnosis. Looking forward it will be of great importance to correlate different genotypes with fetal MRI data.
KeywordsDown Syndrome Prenatal Diagnosis Tuberous Sclerosis Complex Turner Syndrome Single Gene Disorder
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