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Prenatal molecular diagnosis in RASA1-related disease
Prenatal molecular diagnosis in RASA1-related disease
- Source :
- Prenatal diagnosis. 37(12)
- Publication Year :
- 2017
-
Abstract
- RASA1-related disease is a rare autosomal dominant disease characterized by capillary malformations, arteriovenous malformations (AVMs), and/or arteriovenous fistulas (AFVs). Penetrance is nearly complete and vascular malformations may cause serious complications such as organ injury due to oxygenation disorder, brain abscess, hemorrhage, and stroke. Early diagnosis is useful in order to discuss optimal management, including AVMs/AVFs embolization or surgical procedures, and try to prevent some of the complications. In this context, molecular testing of RASA1 gene mutation in relatives may help to better manage the family. All arteriovenous malformations are however not accessible to such procedures. In addition, these therapeutic procedures may result in potential side effects and complications. A couple was referred to our genetics unit and asked us for prenatal genetic testing about a RASA1 mutation. Here, we discuss about arguments that led our team to accept prenatal testing. To the best of our knowledge, no molecular prenatal diagnosis was reported until now in RASA1-related diseases. This first report of prenatal diagnosis in RASA1-related diseases may also offer perspectives for a more general discussion in the field of inherited arteriovenous malformations.
- Subjects :
- 0301 basic medicine
Adult
Male
medicine.medical_specialty
Pediatrics
Context (language use)
Prenatal diagnosis
Disease
03 medical and health sciences
0302 clinical medicine
Pregnancy
Prenatal Diagnosis
medicine
Humans
Genetic Testing
Brain abscess
Stroke
Genetics (clinical)
Genetic testing
medicine.diagnostic_test
business.industry
Obstetrics and Gynecology
Autosomal dominant trait
p120 GTPase Activating Protein
medicine.disease
Penetrance
Surgery
030104 developmental biology
Female
business
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 10970223
- Volume :
- 37
- Issue :
- 12
- Database :
- OpenAIRE
- Journal :
- Prenatal diagnosis
- Accession number :
- edsair.doi.dedup.....3b892b25e711989ee856e2ceadeb89f2