Article ; Online: Prenatal MR Imaging Phenotype of Fetuses with Tuberous Sclerosis: An Institutional Case Series and Literature Review.
AJNR. American journal of neuroradiology
2022 Volume 43, Issue 4, Page(s) 633–638
Abstract: Background and purpose: Most patients with tuberous sclerosis complex (TSC) do not receive prenatal diagnosis. Our aim was to describe MR imaging findings to determine the following: 1. Whether normal fetal MR imaging is more common in fetuses imaged at ...
Abstract | Background and purpose: Most patients with tuberous sclerosis complex (TSC) do not receive prenatal diagnosis. Our aim was to describe MR imaging findings to determine the following: 1. Whether normal fetal MR imaging is more common in fetuses imaged at ≤24 weeks' gestation compared with >24 weeks 2. The frequency of cardiac rhabdomyoma 3. The range of MR imaging phenotypes in fetal tuberous sclerosis complex. Materials and methods: Our institutional fetal MR imaging data base was searched between January 1, 2011 and June 30, 2021, for cases of TSC confirmed either by genetic testing, postnatal imaging, postmortem examination, or composite prenatal imaging findings and family history. A MEDLINE search was performed on June 8, 2021. Results: Forty-seven published cases and 4 of our own cases were identified. Normal findings on fetal MR imaging were seen at a lower gestational age (mean, 24.7 [SD, 4.5 ] weeks) than abnormal findings on MR imaging (mean, 30.0 [SD, 5.3] weeks) ( Conclusions: Fetuses with abnormal cranial MR imaging findings were older than those with negative findings. Fetal hemimegalencephaly and megalencephaly should prompt fetal echocardiography. Cardiac rhabdomyoma was not always present at the time of fetal MR imaging. |
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MeSH term(s) | Female ; Fetal Diseases ; Fetus/diagnostic imaging ; Fetus/pathology ; Heart Neoplasms/diagnostic imaging ; Heart Neoplasms/genetics ; Hemimegalencephaly ; Humans ; Magnetic Resonance Imaging/methods ; Megalencephaly ; Phenotype ; Pregnancy ; Prenatal Diagnosis/methods ; Rhabdomyoma/diagnostic imaging ; Rhabdomyoma/genetics ; Tuberous Sclerosis/complications ; Tuberous Sclerosis/diagnostic imaging ; Ultrasonography, Prenatal |
Language | English |
Publishing date | 2022-03-24 |
Publishing country | United States |
Document type | Journal Article ; Review ; Research Support, Non-U.S. Gov't |
ZDB-ID | 603808-6 |
ISSN | 1936-959X ; 0195-6108 |
ISSN (online) | 1936-959X |
ISSN | 0195-6108 |
DOI | 10.3174/ajnr.A7455 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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