Very Early In-Utero Diagnosis of Walker-Warburg Phenotype: The Cutting Edge of Technology
| Autor: | D. Kidron, Reuwen Achiron, Haike Reznik-Wolf, M. Berkenstadtt, Elon Pras, Eldad Katorza |
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| Rok vydání: | 2016 |
| Předmět: |
lcsh:Medical physics. Medical radiology. Nuclear medicine
musculoskeletal diseases 0301 basic medicine medicine.medical_specialty Pathology lcsh:R895-920 lcsh:Medicine Prenatal diagnosis 030105 genetics & heredity transvaginal ultrasound 03 medical and health sciences 0302 clinical medicine Molecular genetics medicine Radiology Nuclear Medicine and imaging Pregnancy prenatal diagnosis obstetrics ultrasound business.industry walker-warburg phenotype lcsh:R Ultrasound medicine.disease Phenotype In utero Gestation Histopathology advanced technology business 030217 neurology & neurosurgery |
| Zdroj: | Ultrasound International Open, Vol 02, Iss 02, Pp E54-E57 (2016) |
| ISSN: | 2199-7152 |
| Popis: | Background: Walker-Warburg phenotype is a severe and lethal autosomal recessive disorder, belonging to a group of congenital malformations defined as abnormal pial basement membrane formation. So far, prenatal diagnosis was considered possible only during late pregnancy. Methods: First trimester assessment of a pregnancy suspected to be affected by Walker-Warburg phenotype, using a high-resolution transvaginal ultrasound probe (6–12 MHz), T2 MR imaging (1.5T), molecular genetics and histopathology. Results: Very early diagnosis of the Walker-Warburg phenotype at 11 weeks of gestation proved possible by depicting the classic signs of this entity, confirmed by molecular genetics, post-abortion MR imaging and histopathology. Conclusion: Advancements in ultrasound equipment and technology, molecular genetics and histopathology have made very early detection of this syndrome possible, thus shedding new light on the natural history of this malformation. |
| Databáze: | OpenAIRE |
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