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Prenatal molecular diagnosis in RASA1-related disease |
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| Authors: | Aurélien Palmyre Mélanie Eyries Marie-Victoire Senat Augustin Ozanne Stéphanie Staraci Philippe Dufour Thierry Chinet Pascal Lacombe Florent Soubrier Philippe Charron |
| Institution: | 1. Service de Génétique, Hôpital Ambroise Paré, Assistance Publique Hôpitaux de Paris, Boulogne-Billancourt, France;2. Département de Génétique & ICAN, Hôpital Pitié-Salpêtrière, Assistance Publique Hôpitaux de Paris, Paris, France;3. Service Gynécologie Obstétrique, Hôpital Bicêtre, Assistance Publique Hôpitaux de Paris, Paris, France;4. Service de Neuroradiologie Interventionnelle, GHU Paris-Sud - Hôpital de Bicêtre, Assistance Publique Hôpitaux de Paris, Paris, France
Centre de compétence pour la maladie de Rendu Osler, Hôpital Ambroise Paré, Boulogne-Billancourt, France;5. Service de Génétique, Hôpital Ambroise Paré, Assistance Publique Hôpitaux de Paris, Boulogne-Billancourt, France Département de Génétique & ICAN, Hôpital Pitié-Salpêtrière, Assistance Publique Hôpitaux de Paris, Paris, France;6. Service Maternité et suites de naissances, Hôpital Jeanne de Flandre, CHRU de Lille, Lille, France;7. Service de Pneumologie et Oncologie Thoracique, Hôpital Ambroise Paré, Assistance Publique Hôpitaux de Paris, Boulogne-Billancourt, France Centre de compétence pour la maladie de Rendu Osler, Hôpital Ambroise Paré, Boulogne-Billancourt, France;8. Service d'Imagerie Diagnostique et Interventionnelle, Hôpital Ambroise Paré, Assistance Publique Hôpitaux de Paris, Boulogne-Billancourt, France Centre de compétence pour la maladie de Rendu Osler, Hôpital Ambroise Paré, Boulogne-Billancourt, France;9. Service de Génétique, Hôpital Ambroise Paré, Assistance Publique Hôpitaux de Paris, Boulogne-Billancourt, France Département de Génétique & ICAN, Hôpital Pitié-Salpêtrière, Assistance Publique Hôpitaux de Paris, Paris, France Centre de compétence pour la maladie de Rendu Osler, Hôpital Ambroise Paré, Boulogne-Billancourt, France |
| 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. |
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