{"id":268,"date":"2021-11-27T23:14:43","date_gmt":"2021-11-27T22:14:43","guid":{"rendered":"https:\/\/cerenef.org\/?page_id=268"},"modified":"2023-12-07T12:58:12","modified_gmt":"2023-12-07T11:58:12","slug":"comprendre-le-conseil-genetique-neurofibromatose-de-type-1","status":"publish","type":"post","link":"https:\/\/cerenef.org\/en\/comprendre-le-conseil-genetique-neurofibromatose-de-type-1\/","title":{"rendered":"Referral Centre for Neurofibromatosis France"},"content":{"rendered":"<div data-elementor-type=\"wp-page\" data-elementor-id=\"268\" class=\"elementor elementor-268\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-ce112ec elementor-section-boxed elementor-section-height-default elementor-section-height-default elementor-invisible\" data-id=\"ce112ec\" data-element_type=\"section\" data-e-type=\"section\" data-settings=\"{&quot;animation&quot;:&quot;fadeInLeft&quot;}\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-84ccb4c\" data-id=\"84ccb4c\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-5ab0dea elementor-widget elementor-widget-image\" data-id=\"5ab0dea\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<img decoding=\"async\" src=\"https:\/\/cerenef.org\/wp-content\/uploads\/2022\/01\/conseil-genetique.jpg\" title=\"CERENEF\" alt=\"CERENEF\" loading=\"lazy\" \/>\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-36b7baba elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"36b7baba\" data-element_type=\"section\" data-e-type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-23518a10\" data-id=\"23518a10\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-13d27fc5 elementor-widget elementor-widget-text-editor\" data-id=\"13d27fc5\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited disease of genetic origin. It is one of the most common genetic diseases affecting between 1 in 3,000 and 6,000 births.<\/p><p>As part of the referral centre, we offer genetic counselling interviews for all patients, but also genetic consultations, sometimes necessary as part of the diagnostic process (\"atypical\" neurofibromatosis).<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-39d1483 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"39d1483\" data-element_type=\"section\" data-e-type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-44e3aba\" data-id=\"44e3aba\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-227bd7c elementor-widget elementor-widget-toggle\" data-id=\"227bd7c\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"toggle.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-toggle\">\n\t\t\t\t\t\t\t<div class=\"elementor-toggle-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-3611\" class=\"elementor-tab-title\" data-tab=\"1\" role=\"button\" aria-controls=\"elementor-tab-content-3611\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon elementor-toggle-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon-closed\"><i class=\"fas fa-caret-right\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon-opened\"><i class=\"elementor-toggle-icon-opened fas fa-caret-up\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-toggle-title\" tabindex=\"0\">Transmission of neurofibromatosis to offspring<\/a>\n\t\t\t\t\t<\/div>\n\n\t\t\t\t\t<div id=\"elementor-tab-content-3611\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"1\" role=\"region\" aria-labelledby=\"elementor-tab-title-3611\"><p>The risk of transmission of the disease to offspring is 50%. However, since the expression of the disease varies within the family, it is impossible to anticipate the severity of the phenotype.<\/p><p>Prenatal Diagnosis (PND) or Pre-Implantation Diagnosis (PGD) techniques are currently possible, whether it is a familial form (several affected people in the same family) or a sporadic form of the disease (only one person affected), provided that the molecular abnormality responsible for NF1 has been identified beforehand.<\/p><p>Non-Invasive Prenatal Diagnosis (NIPT) can now be proposed when the molecular abnormality sought in the foetus is of paternal origin and is a point mutation.<\/p><p><img decoding=\"async\" class=\"aligncenter size-full\" title=\"Referral Centre for Neurofibromatosis France\" src=\"https:\/\/cerenef.org\/wp-content\/uploads\/2022\/04\/transmission-3-en.svg\" alt=\"H\u00e9ritage g\u00e9n\u00e9tique NF1\" width=\"600\" height=\"auto\" \/><\/p><hr \/><p style=\"text-align: center;\">Transmission of NF1 - Example of a family tree where the father has NF1, and the mother is unharmed.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-toggle-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-3612\" class=\"elementor-tab-title\" data-tab=\"2\" role=\"button\" aria-controls=\"elementor-tab-content-3612\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon elementor-toggle-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon-closed\"><i class=\"fas fa-caret-right\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon-opened\"><i class=\"elementor-toggle-icon-opened fas fa-caret-up\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-toggle-title\" tabindex=\"0\">Genetic counselling interview<\/a>\n\t\t\t\t\t<\/div>\n\n\t\t\t\t\t<div id=\"elementor-tab-content-3612\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"2\" role=\"region\" aria-labelledby=\"elementor-tab-title-3612\"><p>The geneticist, or genetic counsellor, receives you in a genetic counselling interview to provide you with appropriate information on the genetic nature of your disease.<\/p><p>Genetic counselling is often offered in the following 3 situations:<\/p><ul><li>Following the announcement of the diagnosis concerning you or your child.<\/li><li>Prior to the prescription of the genetic test. You are given clear and appropriate information about the disease, the purpose of the genetic test, the personal and family consequences of the result, and the right not to use genetic testing. The result of the genetic analysis is given in the context of an individual consultation.<\/li><li>Upstream of a parental project to inform you about the possibilities of using a Prenatal Diagnosis (PND), a Pre-Implantation Diagnosis (PGD), or a Non-Invasive Prenatal Diagnosis (NIPT), under certain conditions.<\/li><\/ul><p>Genetic counselling allows patients to make an autonomous and informed choice about whether or not to use one of these diagnoses.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-toggle-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-3613\" class=\"elementor-tab-title\" data-tab=\"3\" role=\"button\" aria-controls=\"elementor-tab-content-3613\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon elementor-toggle-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon-closed\"><i class=\"fas fa-caret-right\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon-opened\"><i class=\"elementor-toggle-icon-opened fas fa-caret-up\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-toggle-title\" tabindex=\"0\">Genetic consultation<\/a>\n\t\t\t\t\t<\/div>\n\n\t\t\t\t\t<div id=\"elementor-tab-content-3613\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"3\" role=\"region\" aria-labelledby=\"elementor-tab-title-3613\"><p>Genetic consultations are provided by a medical geneticist at the request of your doctor. They can also include the intervention of a genetic counsellor, working under the responsibility of the doctor.<\/p><p>The geneticist works in collaboration with doctors at the neurofibromatosis referral centre to identify the genetic cause of your disease.<\/p><p>The geneticist prescribes genetic tests and sees you again in consultation to explain the results. A clinical examination can occur during the consultation, and photographs may be taken in case they are useful for the diagnosis.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-toggle-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-3614\" class=\"elementor-tab-title\" data-tab=\"4\" role=\"button\" aria-controls=\"elementor-tab-content-3614\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon elementor-toggle-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon-closed\"><i class=\"fas fa-caret-right\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon-opened\"><i class=\"elementor-toggle-icon-opened fas fa-caret-up\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-toggle-title\" tabindex=\"0\">How to prepare for the genetic consultation and\/or genetic counselling?<\/a>\n\t\t\t\t\t<\/div>\n\n\t\t\t\t\t<div id=\"elementor-tab-content-3614\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"4\" role=\"region\" aria-labelledby=\"elementor-tab-title-3614\"><p>The geneticist and the genetic counsellor are always interested in your family history. It is not necessary to prepare a family tree, but they will ask questions about the health of your loved ones (parents, uncles and aunts, brothers, sisters, and their children, cousins) including a disability, a genetic disease, malformations, etc. Any questions that will clarify genetic counselling, particularly when deciding to become a parent.<\/p><p>If you have already had a sample for a genetic analysis, it is necessary to come with the result of the genetic analysis or the date of the collection as well as the name of the prescribing doctor of the genetic analysis.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-602daa0 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"602daa0\" data-element_type=\"section\" data-e-type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-a17b08d\" data-id=\"a17b08d\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-3ce035a elementor-widget elementor-widget-heading\" data-id=\"3ce035a\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Useful documents and links<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-2c2b3e9 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"2c2b3e9\" data-element_type=\"section\" data-e-type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-00adf32\" data-id=\"00adf32\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-8377652 elementor-list-item-link-inline elementor-icon-list--layout-traditional elementor-widget elementor-widget-icon-list\" data-id=\"8377652\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"icon-list.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<ul class=\"elementor-icon-list-items\">\n\t\t\t\t\t\t\t<li class=\"elementor-icon-list-item\">\n\t\t\t\t\t\t\t\t\t\t\t<a href=\"http:\/\/af-cg.fr\/cg-par-region-2\/\" target=\"_blank\">\n\n\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-icon\">\n\t\t\t\t\t\t\t<i aria-hidden=\"true\" class=\"fas fa-dot-circle\"><\/i>\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-text\">Directory of genetic counsellors by region<\/span>\n\t\t\t\t\t\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t<\/li>\n\t\t\t\t\t\t\t\t<li class=\"elementor-icon-list-item\">\n\t\t\t\t\t\t\t\t\t\t\t<a href=\"https:\/\/cerenef.org\/wp-content\/uploads\/2021\/11\/2015_brochure_dpi_vdef.pdf\" target=\"_blank\">\n\n\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-icon\">\n\t\t\t\t\t\t\t<i aria-hidden=\"true\" class=\"fas fa-dot-circle\"><\/i>\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-text\">Preimplantation diagnosis and you - Brochure<\/span>\n\t\t\t\t\t\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t<\/li>\n\t\t\t\t\t\t\t\t<li class=\"elementor-icon-list-item\">\n\t\t\t\t\t\t\t\t\t\t\t<a href=\"https:\/\/cerenef.org\/wp-content\/uploads\/2021\/11\/Transmission.pdf\" target=\"_blank\">\n\n\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-icon\">\n\t\t\t\t\t\t\t<i aria-hidden=\"true\" class=\"fas fa-dot-circle\"><\/i>\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-text\">Transmission of genetic diseases - OrphaSchool <\/span>\n\t\t\t\t\t\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t<\/li>\n\t\t\t\t\t\t\t\t<li class=\"elementor-icon-list-item\">\n\t\t\t\t\t\t\t\t\t\t\t<a href=\"https:\/\/www.genetique-medicale.fr\/\" target=\"_blank\">\n\n\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-icon\">\n\t\t\t\t\t\t\t<i aria-hidden=\"true\" class=\"fas fa-dot-circle\"><\/i>\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-text\">Website of the Biomedicine Agency<\/span>\n\t\t\t\t\t\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t<\/li>\n\t\t\t\t\t\t<\/ul>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<\/div>","protected":false},"excerpt":{"rendered":"<p>La neurofibromatose de type 1 (NF1) est une maladie d\u2019origine g\u00e9n\u00e9tique, de transmission autosomique dominante. C\u2019est une des maladies g\u00e9n\u00e9tiques les plus fr\u00e9quentes qui concerne entre 1 sur 3 000 et 6 000 naissances. Dans le cadre du centre de r\u00e9f\u00e9rence, nous proposons des entretiens de conseil g\u00e9n\u00e9tique, \u00e0 destination de tous les patients, mais&hellip;&nbsp;<\/p>\n<div class=\"read-more-wrapper\"><a href=\"https:\/\/cerenef.org\/en\/comprendre-le-conseil-genetique-neurofibromatose-de-type-1\/\" class=\"button button-secondary\" rel=\"bookmark\">\u279c Read more<span class=\"screen-reader-text\">Referral Centre for Neurofibromatosis France<\/span><\/a><\/div>","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"neve_meta_sidebar":"","neve_meta_container":"","neve_meta_enable_content_width":"off","neve_meta_content_width":100,"neve_meta_title_alignment":"","neve_meta_author_avatar":"","neve_post_elements_order":"","neve_meta_disable_header":"","neve_meta_disable_footer":"","neve_meta_disable_title":"","neve_meta_reading_time":"","footnotes":""},"categories":[12],"tags":[],"class_list":["post-268","post","type-post","status-publish","format-standard","hentry","category-vivre-avec-une-nf1"],"_links":{"self":[{"href":"https:\/\/cerenef.org\/en\/wp-json\/wp\/v2\/posts\/268","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/cerenef.org\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/cerenef.org\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/cerenef.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/cerenef.org\/en\/wp-json\/wp\/v2\/comments?post=268"}],"version-history":[{"count":0,"href":"https:\/\/cerenef.org\/en\/wp-json\/wp\/v2\/posts\/268\/revisions"}],"wp:attachment":[{"href":"https:\/\/cerenef.org\/en\/wp-json\/wp\/v2\/media?parent=268"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/cerenef.org\/en\/wp-json\/wp\/v2\/categories?post=268"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/cerenef.org\/en\/wp-json\/wp\/v2\/tags?post=268"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}