Elida Vazquez MD, Presenter: Nothing to Disclose

Ignacio Delgado MD, Abstract Co-Author: Nothing to Disclose

Angel Sanchez-Montanez, Abstract Co-Author: Nothing to Disclose

Alfons Macaya, Abstract Co-Author: Nothing to Disclose

Veronica Del Prete, Abstract Co-Author: Nothing to Disclose

Elena Carreras MD, Abstract Co-Author: Nothing to Disclose

To prove the value of cerebral MRI in diagnosing TSC in fetuses with intracardiac rhabdomyomas. To establish that MRI should be a component of fetal diagnostic workup in suspected TSC To remark the importance to be aware that a negative fetal MRI does not exclude TSC

12 fetuses with cardiac rhabdomyomas (22–36 weeks’ gestation) underwent cerebral MRI in our tertiary center. The study was approved by the local ethics committee and written informed consent was obtained from all patients. MRI examinations were performed on an Avanto scanner (Siemens, Erlangen, Germany) using a body phased array coil. Images were acquired using a T2-W HASTE, a T2*GRE, Fat-Sat T2-W HASTE  and a T1-W gradient-echo sequences in axial, sagittal and coronal planes, with a slice thickness of 4 mm. The women were imaged in the supine position without sedation. Obtained images were read by two pediatric neuroradiologists experienced in neurofetal imaging. MR imaging results were correlated with postnatal imaging, genetic data and/or histology. To avoid confusing these lesions with artifacts, we set our criteria for subependymal lesions to be seen on at least two scanning sequences in orthogonal planes and to cause a contour deformity of the ventricular wall.   

In 10 cases, fetal MRI demonstrated typical characteristics of TSC, which were confirmed by postnatal MRI in preganancies that continue gestation, or histology in those that were interrupted. There was one false-negative case, in which TSC diagnosis was established postnatally based on the presence of a single SEN that was not seen on prenatal MRI. Genetic testing of the mother also failed to prove TSC in this case. One early case was a false-positive, in which a single SEN was suspected on fetal MRI, but was not confirmed postnatally.

Our results prove that fetal MRI is a sensitive modality for detecting cerebral lesions in TSC and should become a component of early interdisciplinary diagnostic workup in suspected fetal TSC.  Although an MR diagnosis of TSC has been reported as early as 21 weeks’ gestation, in our experience the diagnosis is more difficult before 28 weeks’ gestation. Presence of multiplicity of lesions increases the diagnostic confidence whereas a solitary lesion may be cause of false negative or positive diagnosis.  

Fetal MRI is a sensitive modality for detecting cerebral lesions in TSC 

Vazquez, E, Delgado, I, Sanchez-Montanez, A, Macaya, A, Del Prete, V, Carreras, E, Tuberous Sclerosis Complex: Prenatal CNS MRI Findings.  Radiological Society of North America 2013 Scientific Assembly and Annual Meeting, December 1 - December 6, 2013 ,Chicago IL. http://archive.rsna.org/2013/13027065.html