Prenatal diagnosis of tuberous sclerosis. Use of magnetic resonance imaging and its implications for prognosis
| Autor: | Anne-Lise Delezoide, Fernand Daffos, Marie Gonzales, Francis Brunelle, F. Jacquemard, H. Werner, Laurent Fermont, Véronique Mirlesse, Pascale Sonigo |
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| Rok vydání: | 1994 |
| Předmět: |
Fetus
Pathology medicine.medical_specialty medicine.diagnostic_test business.industry Obstetrics and Gynecology De novo mutation Prenatal diagnosis Magnetic resonance imaging Prognosis medicine.disease Magnetic Resonance Imaging Mri image Tuberous sclerosis Pregnancy Tuberous Sclerosis Prenatal Diagnosis Humans Medicine Brain lesions Female business Genetics (clinical) |
| Zdroj: | Prenatal Diagnosis. 14:1151-1154 |
| ISSN: | 1097-0223 0197-3851 |
| DOI: | 10.1002/pd.1970141208 |
| Popis: | Tuberous sclerosis (TS) is an autosomal dominant disorder with a high rate of de novo mutation. The real difficulty is to ascertain the diagnosis and to give the neurological prognosis in each case. Prenatal diagnosis of TS is generally based on ultrasonographic signs of multiple cardiac tumours, i.e. rhabdomyomas. Recent progress in magnetic resonance imaging (MRI) enables the diagnosis in a large proportion of cases based on typical brain lesions. It may have a role in the prenatal management of TS, although MRI images seem to underestimate the anatomical findings. Two cases in which TS was diagnosed prenatally are presented with reference to the value of MRI in the prenatal management and comparison with anatomical findings. |
| Databáze: | OpenAIRE |
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