{"id":8292,"date":"2025-10-10T14:33:23","date_gmt":"2025-10-10T12:33:23","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=events&#038;p=8292"},"modified":"2025-10-10T14:33:24","modified_gmt":"2025-10-10T12:33:24","slug":"multidisciplinary-fetal-diagnostics-winter-school-2025-edition","status":"publish","type":"events","link":"https:\/\/ern-ithaca.eu\/fr\/events-news\/upcoming-events\/multidisciplinary-fetal-diagnostics-winter-school-2025-edition\/","title":{"rendered":"\u00c9cole d'hiver sur le diagnostic f\u0153tal multidisciplinaire \u2013 \u00c9dition 2025\u00a0"},"content":{"rendered":"<h2 class=\"wp-block-heading\">Contenu&nbsp;<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">L'universit\u00e9 d'hiver sur le diagnostic f\u0153tal, organis\u00e9e par le ERN-ITHACA, vise \u00e0 combler une lacune dans les connaissances en mati\u00e8re de ph\u00e9notypage f\u0153tal, d'analyse g\u00e9n\u00e9tique et d'interpr\u00e9tation des donn\u00e9es. Ce stage d'une journ\u00e9e comprendra des cours magistraux de base et des ateliers approfondis sur le ph\u00e9notypage, les tests g\u00e9nomiques pr\u00e9nataux et leurs implications pour le conseil g\u00e9n\u00e9tique. Pour conclure, le programme fera le lien entre les domaines abord\u00e9s gr\u00e2ce \u00e0 des discussions de cas interdisciplinaires.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Cette formation s'adresse aux sp\u00e9cialistes et aux sp\u00e9cialistes en formation dans les domaines de la g\u00e9n\u00e9tique clinique et de laboratoire, de la bio-informatique, de l'obst\u00e9trique et de la pathologie, qui s'int\u00e9ressent tout particuli\u00e8rement \u00e0 la m\u00e9decine pr\u00e9natale.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Ce programme rassemble d'\u00e9minents chercheurs issus des institutions affili\u00e9es au programme ITHACA et de ses partenaires collaborateurs dans les domaines de la m\u00e9decine f\u0153to-maternelle, de l'imagerie f\u0153tale, de la pathologie f\u0153tale et de la g\u00e9n\u00e9tique humaine, afin que les participants puissent tirer pleinement parti de cette vaste expertise.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">L'\u00c9cole d'hiver se tient en marge du congr\u00e8s annuel \u201c Best of \u201d de la Soci\u00e9t\u00e9 fran\u00e7aise de pathologie f\u0153tale (SoFFoet \u2013 http:\/\/soffoet.fr\/), le vendredi 5<sup>e<\/sup>\u00a0En d\u00e9cembre, les \u00e9l\u00e8ves sont \u00e9galement invit\u00e9s \u00e0 participer.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u00a0<\/p>\n\n\n\n<div style=\"height:51px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Principaux th\u00e8mes abord\u00e9s&nbsp;<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Ce cours offre une vue d'ensemble des th\u00e8mes et des principes m\u00e9thodologiques li\u00e9s au domaine complexe de l'arthrogrypose. Il aborde notamment l'introduction et la classification de l'arthrogrypose, son d\u00e9pistage et son diagnostic, ainsi que le traitement pr\u00e9coce et la r\u00e9\u00e9ducation. Les possibilit\u00e9s et les limites de l'imagerie f\u0153tale et de la pathologie f\u0153tale, ainsi que de la g\u00e9n\u00e9tique clinique pr\u00e9natale dans le domaine de la m\u00e9decine g\u00e9nomique, seront approfondies lors des ateliers.&nbsp;<\/p>\n\n\n\n<div style=\"height:51px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Acquis d'apprentissage&nbsp;<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Les \u00e9tudiants apprendront \u00e0 g\u00e9rer :&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Les possibilit\u00e9s offertes aujourd\u2019hui par le ph\u00e9notypage f\u0153tal approfondi&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">La complexit\u00e9 des \u00e9tudes g\u00e9n\u00e9tiques portant sur les ph\u00e9notypes p\u00e9rinataux&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u00c9tat actuel de la prise en charge p\u00e9rinatale et postnatale&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Importance du travail interdisciplinaire<\/p>\n\n\n\n<div style=\"height:51px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Informations pratiques&nbsp;<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Format : Physique&nbsp;<br>Dates : 4 d\u00e9cembre 2025&nbsp;<br>Lieu : Imagine Institute, Paris, France&nbsp;<br>Langue : anglais&nbsp;<br>Charge de travail des \u00e9tudiants : 15 heures&nbsp;<br>Heures de cours : 8&nbsp;<br>Nombre maximal de participants : 60&nbsp;<br><strong>La formation aura lieu le 4 d\u00e9cembre, de 8 h 30 \u00e0 18 h (heure d'Europe centrale).&nbsp;<br><\/strong>Pour plus d'informations ou si vous avez des questions, veuillez envoyer un e-mail \u00e0 l'adresse suivante : klea.vyshka@aphp.fr&nbsp;<\/p>\n\n\n\n<div style=\"height:51px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Calendrier&nbsp;<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Le cours comprendra un m\u00e9lange de cours magistraux traditionnels s\u00e9lectionn\u00e9s, d'ateliers et de travaux dirig\u00e9s.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 <strong>4 d\u00e9cembre&nbsp;<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><em>S\u00e9ance du matin n\u00b0 1 \u2013 Conf\u00e9rences \u2013 Auditorium principal<\/em>&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">La premi\u00e8re session comprendra des expos\u00e9s sur les principaux axes du cours et offrira un aper\u00e7u des derni\u00e8res avanc\u00e9es dans les diff\u00e9rents domaines abord\u00e9s, en vue de pr\u00e9parer les ateliers.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Classification de l'arthrogrypose et voies mol\u00e9culaires \u2013 Klaus Dieterich&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Imagerie de la motricit\u00e9 f\u0153tale et parcours de soins de l'arthrogrypose \u2013 Hanneke de Vries\/Arda Ardu\u00e7&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Pathologie f\u0153tale dans l'arthrogrypose multiple cong\u00e9nitale \u2013 Ferecht\u00e9 Razavi&nbsp;&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Prise en charge pr\u00e9coce et r\u00e9\u00e9ducation \u2013 V\u00e9ronique Bourg&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><em>Session du matin n\u00b0 2 et sessions de l'apr\u00e8s-midi n\u00b0 1 et 2 \u2013 Ateliers (r\u00e9p\u00e9t\u00e9s)<\/em>&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Les ateliers ont pour objectif de permettre aux \u00e9tudiants de mieux comprendre les sp\u00e9cialisations des autres disciplines gr\u00e2ce \u00e0 des exercices pratiques et des \u00e9tudes de cas s'appuyant sur les cours magistraux d'introduction.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">&nbsp;\u201c<em>\u201d G\u00e9n\u00e9tique \u2013 Ph\u00e9notype-g\u00e9notype \u00bb (Klaus Dieterich et V\u00e9ronique Bourg) :<\/em>&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">La mise en \u00e9vidence par \u00e9chographie d'une diminution des mouvements f\u0153taux, de contractures accompagn\u00e9es ou non d'autres anomalies, pose un v\u00e9ritable d\u00e9fi. \u00c0 partir de cas concrets, les participants discuteront et apprendront comment les caract\u00e9ristiques ph\u00e9notypiques de l'arthrogrypose peuvent orienter la strat\u00e9gie de d\u00e9pistage g\u00e9n\u00e9tique afin d'\u00e9tablir un diagnostic qui servira de base au conseil sur le pronostic et la prise en charge postnatale.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u201c<em>\u201d Imagerie \u2013 D\u00e9tection et diagnostic \u00bb (Hanneke de Vries, Arda Ardu\u00e7 et Isabel Filges) :<\/em>&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Au cours de cette session, les intervenants pr\u00e9senteront et analyseront une s\u00e9rie de cas d'arthrogrypose pr\u00e9natale, en mettant l'accent sur les aspects li\u00e9s au d\u00e9pistage par imagerie et sur la mani\u00e8re dont les r\u00e9sultats peuvent orienter le conseil en mati\u00e8re d'analyse g\u00e9n\u00e9tique.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u201c<em>\u201d De la pathologie f\u0153tale au diagnostic et vice-versa \u00bb (Laurence Loeuillet, Bettina Bessi\u00e8res et Tania Atti\u00e9-Bitach) :<\/em>&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Les participants d\u00e9couvriront l'int\u00e9r\u00eat et l'apport de la pathologie f\u0153tale dans le diagnostic des ph\u00e9notypes de l'arthrogrypose. L'analyse de cas permettra de mettre en \u00e9vidence les signes sp\u00e9cifiques \u00e0 ne pas n\u00e9gliger dans certaines pathologies.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><em>Session du soir \u2013 Discussion sur des cas d'utilisation \/ Pr\u00e9sentation de cas (Auditorium principal) :<\/em>&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Les intervenants discuteront avec les participants de cas s\u00e9lectionn\u00e9s parmi ceux soumis par ces derniers.&nbsp;<\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"1885\" height=\"1000\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2025\/10\/image.png\" alt=\"\" class=\"wp-image-8293\" srcset=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2025\/10\/image.png 1885w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2025\/10\/image-600x318.png 600w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2025\/10\/image-768x407.png 768w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2025\/10\/image-1536x815.png 1536w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2025\/10\/image-1320x700.png 1320w\" sizes=\"auto, (max-width: 1885px) 100vw, 1885px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">\u2013 <strong>5 d\u00e9cembre<\/strong>&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Congr\u00e8s de la Soci\u00e9t\u00e9 fran\u00e7aise de pathologie f\u0153tale (SoFFoet \u2013 http:\/\/soffoet.fr\/) \u2013 de 9 h 30 \u00e0 17 h 30. Pour vous inscrire, veuillez remplir le formulaire disponible sur le site web de la SoFFoet avant le 15 novembre 2025.&nbsp;<\/p>\n\n\n\n<div style=\"height:51px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Proc\u00e9dure de candidature&nbsp;<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Les candidats sont invit\u00e9s \u00e0 remplir le formulaire d'inscription \u00e0 l'universit\u00e9 d'hiver ici : <a href=\"https:\/\/forms.office.com\/e\/NiBGYwv7i9\">https:\/\/forms.office.com\/e\/NiBGYwv7i9<\/a> .\u202f<strong>La date limite de d\u00e9p\u00f4t des candidatures est fix\u00e9e au 31 octobre 2025.<\/strong>&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Les \u00e9tudiants s\u00e9lectionn\u00e9s seront inform\u00e9s d'ici le 5 novembre 2025.&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Cette formation se d\u00e9roulera \u00e0 l'Imagine Institute (https:\/\/www.institutimagine.org\/fr).&nbsp;<\/p>\n\n\n\n<div style=\"height:51px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Frais de d\u00e9placement, d'h\u00e9bergement et d'inscription&nbsp;<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Les participants doivent organiser eux-m\u00eames leur voyage et leur h\u00e9bergement. La participation&nbsp;<strong>L'inscription \u00e0 ce cours est gratuite.<\/strong>&nbsp;En raison de difficult\u00e9s financi\u00e8res cette ann\u00e9e, nous ne sommes malheureusement pas en mesure d'offrir des bourses.<\/p>\n\n\n\n<div style=\"height:51px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">Corps enseignant&nbsp;<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Arda Ardu\u00e7 \u2013 Centre d'expertise de l'Amsterdam UMC sur l'akin\u00e9sie f\u0153tale, les malformations s\u00e9quentielles et l'arthrogrypose multiple cong\u00e9nitale, Amsterdam, Pays-Bas<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Tania Attie-Bitach \u2013 Service de g\u00e9nomique des maladies rares, Centre hospitalier universitaire Necker-Enfants Malades, Paris, Unit\u00e9 de pathologie f\u0153tale<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Bettina Bessi\u00e8res, Service de g\u00e9nomique des maladies rares, Centre hospitalier universitaire Necker-Enfants Malades, Paris, Unit\u00e9 de pathologie f\u0153tale<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">V\u00e9ronique Bourg \u2013 P\u00f4le de p\u00e9diatrie et de g\u00e9n\u00e9tique, CHU de Grenoble Alpes, France<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Klaus Dieterich \u2013 Service de g\u00e9n\u00e9tique clinique, CHU de Grenoble-Alpes, France<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Andreas Dufke \u2013 MVZ genetikum GmbH, Stuttgart, Allemagne<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Isabel Filges \u2013 G\u00e9n\u00e9tique m\u00e9dicale, Institut de g\u00e9n\u00e9tique m\u00e9dicale et de pathologie, H\u00f4pital universitaire de B\u00e2le et Universit\u00e9 de B\u00e2le, B\u00e2le, Suisse&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Laurence Loeillet, Service de g\u00e9nomique des maladies rares, Centre hospitalier universitaire Necker-Enfants Malades, Paris, Unit\u00e9 de pathologie f\u0153tale<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">F\u00e9recht\u00e9 Razavi \u2013 Service de g\u00e9nomique des maladies rares, Centre hospitalier universitaire Necker-Enfants Malades, Paris, Unit\u00e9 de pathologie f\u0153tale<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Gijs Santen \u2013 Centre m\u00e9dical universitaire de Leyde, Leyde&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Hanneke de Vries \u2013 Centre d'expertise de l'UMC d'Amsterdam sur l'akin\u00e9sie f\u0153tale, les malformations s\u00e9quentielles et l'arthrogrypose multiple cong\u00e9nitale, Amsterdam, Pays-Bas<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Lilia Ezzili \u2013 Cheffe de projet, SoFFoet, R\u00e9seau fran\u00e7ais de sant\u00e9 sur les maladies rares, AnDDI-Rares, Service de g\u00e9nomique des maladies rares, Necker-Enfants Malades<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Klea Vyshka \u2013 Cheffe de projet et responsable juridique ERN ITHACA, Service de g\u00e9n\u00e9tique clinique, H\u00f4pital universitaire Robert Debr\u00e9, Paris&nbsp;<\/p>","protected":false},"featured_media":0,"template":"","categories":[],"tags":[],"class_list":["post-8292","events","type-events","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.7 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Multidisciplinary Fetal Diagnostics Winter School - 2025 edition\u00a0 - ERN ITHACA<\/title>\n<meta name=\"robots\" content=\"noindex, follow\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Multidisciplinary Fetal Diagnostics Winter School - 2025 edition\u00a0 - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"Content&nbsp; The Winter School on Fetal Diagnosis organised by the ERN-ITHACA aims to address a learning gap in fetal phenotyping, genetic analysis, and data interpretation. As a single-day course it will include basic lectures and in depth-workshops on phenotyping, prenatal genomic testing, and the implications for genetic counselling. 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