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Fetal Brain MRI Findings in Myotonic Dystrophy and Considerations for Prenatal Genetic Testing
Matthew A Shear1, Monica Penon-Portmann1, Joseph T Shieh1
1From the Department of Obstetrics, Gynecology, and Reproductive Sciences (M.A.S., M.-P.T., S.C., T.N.S.); Division of Medical Genetics (M.A.S., M.P.-P., J.T.S.), Department of Pediatrics, University of California, San Francisco; Division of Genetic Medicine (M.P.-P.), Department of Pediatrics, University of Washington, Seattle; Fetal Treatment Center (M.A.S., S.C., T.N.S.), Division of Maternal-Fetal Medicine and Reproductive Genetics; Center for Maternal Fetal Precision Medicine (M.A.S., D.G.); Departments of Neurology and Pediatrics (O.A.G., D.G.); and Department of Radiology and Biomedical Imaging (O.A.G.), University of California, San Francisco.
Congenital myotonic dystrophy type 1 (DM1) can present with new prenatal findings like fetal supraventricular tachycardia and frontal bossing. Early recognition through maternal history is crucial as standard genetic tests may miss DM1.
Area of Science:
- Neurology
- Genetics
- Prenatal Medicine
Background:
- Congenital myotonic dystrophy type 1 (DM1) is a rare neuromuscular disorder with significant morbidity and mortality.
- Prenatal diagnosis of DM1 is challenging due to nonspecific ultrasound findings or absence of anomalies.
Purpose of the Study:
- To compare clinical courses and prenatal imaging in two congenital DM1 cases.
- To expand the understanding of the prenatal phenotype of DM1.
Main Methods:
- Retrospective chart review of two congenital DM1 cases.
- Analysis of prenatal imaging findings, including fetal MRI.
Main Results:
- Identified novel prenatal findings: fetal supraventricular tachycardia (SVT) and frontal bossing.
- Observed unique fetal MRI findings of lateral ventricle dilation in the anterior bodies and frontal horns in both cases.
Conclusions:
- Congenital DM1's prenatal phenotype may include fetal SVT and frontal bossing.
- Specific fetal MRI features like anterior lateral ventricle dilation can aid in diagnosis.
- Maternal evaluation is key for diagnosis, as DM1 requires specialized genetic testing.
