Content
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. To finalize, the program will bridge the addressed fields with interdisciplinary case discussions.
The course is open to specialists and specialists in training in the fields of clinical and laboratory genetics, bioinformatics, obstetrics, pathology with a special interest in prenatal medicine.
The program gathers excellent scientists from ITHACA affiliates and collaborating partners in the fields of fetal-maternal-medicine, fetal imaging, fetal pathology, and human genetics so that participants benefit entirely from the vast expertise.
The Winter School is adjunct to the “Best of” annual meeting of the French Society of Fetal pathology (SoFFoet – http://soffoet.fr/) on Friday 05th December and students are also invited to join.
Main topics addressed
This course provides an overview of the subject matter and methodological principles in the complex field of arthrogryposis. It includes an introduction and classification of arthrogryposis, detection and diagnosis as well as early therapy and rehabilitation. The opportunities and limitations of fetal imaging and fetal pathology as well as prenatal clinical genetics in the field of genomic medicine will be explored in greater depth in the workshops.
Learning outcomes
Students will learn how to handle:
The possibilities of today’s in-depth fetal phenotyping
The complexity of genetic investigations in perinatal phenotypes
The current state of peri-and postnatal management
Importance of interdisciplinary work
Practical Details
Format: Physical
Dates: 04 December 2025
Location: Imagine Institute, Paris, France
Language: English
Student workload: 15 hours
Contact hours: 8
Maximum number of participants: 60
The course takes place on 04th of December from 8.30am to 6pm CET
For further information or if you have any questions, please send an e-mail to: klea.vyshka@aphp.fr
Schedule
The course will consist of a mixture of selected traditional lectures, workshops, and tutorials.
– 04th of December
Morning Session 1 – Lectures – Main Auditorium
The first session will include lectures on the main focuses of the course and give a state-of-the-art overview for the topics in preparation of the workshops.
Classification of Arthrogryposis and molecular pathways – Klaus Dieterich
Fetal motility imaging and care pathway of arthrogryposis – Hanneke de Vries/Arda Arduç
Fetal pathology in arthrogryposis multiplex congenita – Ferechté Razavi
Early therapy and rehabilitation – Véronique Bourg
Morning Session 2 and Afternoon Session 1 + 2 – Workshops (repeated)
Workshops are intended to provide an understanding of the specializations to the respective other disciplines by means of practical exercises / case studies based on the introductory lectures.
“Genetics – Phenotype-Genotype” (Klaus Dieterich and Véronique Bourg):
The ultrasound finding of reduced fetal movement, contractures with or without other anomalies is very challenging. Based on cases the participants will discuss and learn how phenotype details in arthrogryposis can inform the genetic testing strategy to obtain a diagnosis that serves as the basis for counselling on prognosis and postnatal management.
“Imaging – Detection and diagnosis” (Hanneke de Vries/Arda Arduç and Isabel Filges):
In this session, the faculty will present and discuss a series of prenatal arthrogryposis cases for aspects of detection by imaging and how findings can guide the counselling for genetic analysis.
“From fetal pathology to diagnosis and backforward” (Laurence Loeuillet, Bettina Bessières and Tania Attié-Bitach):
Participants will learn the benefice and input of fetal pathology for the diagnosis of arthrogryposis phenotypes. Case discussion will allow to point specific signs that should not be missed in selected conditions.
Evening Session – Use Case Discussion / Case presentation (Main Auditorium):
The faculty together with the participants will discuss selected cases submitted by participants.
– 05th of December
French Society of fetal pathology meeting (SoFFoet – http://soffoet.fr/) – from 09.30 am – 05.30 pm. To apply please fill in the form that you can find at the SoFFoet website before the 15th of November 2025.
Application process
Applicants should fill in the application form for the Winter School here: https://forms.office.com/e/NiBGYwv7i9 . The application deadline is October 31, 2025.
Selected students will be notified by November 5, 2025.
This course will be held at Imagine Institute (https://www.institutimagine.org/fr).
Travel, accommodation and fees
Participants are expected to organise their own travel and accommodation. The participation to the course is free of charge. Due to financial difficulties this year, we are unfortunately not able to offer scholarships.
Faculty
Arda Arduç – Amsterdam UMC Expertisecentrum Foetale Akinesie Deformatie Sequentie en Arthrogryposis Multiplex Congenita, Amsterdam, the Netherlands
Tania Attie-Bitach – Department of Genomics of Rare Diseases, Necker-Enfants Malades University Hospital, Paris, Fetal Pathology unit
Bettina Bessières, Department of Genomics of Rare Diseases, Necker-Enfants Malades University Hospital, Paris, Fetal Pathology unit
Véronique Bourg – Pôle Pédiatrie-Génétique, CHU Grenoble Alpes, France
Klaus Dieterich – Service de Génétique Clinique, CHU Grenoble Alpes, France
Andreas Dufke – MVZ genetikum GmbH, Stuttgart, Germany
Isabel Filges – Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel and University of Basel, Basel, Switzerland
Laurence Loeillet, Department of Genomics of Rare Diseases, Necker-Enfants Malades University Hospital, Paris, Fetal Pathology unit
Férechté Razavi – Department of Genomics of Rare Diseases, Necker-Enfants Malades University Hospital, Paris, Fetal Pathology unit
Gijs Santen – Leiden University Medical Center, Leiden
Hanneke de Vries – Amsterdam UMC Expertisecentrum Foetale Akinesie Deformatie Sequentie en Arthrogryposis Multiplex Congenita, Amsterdam, the Netherlands
Lilia Ezzili – Project Manager, SoFFoet, French Rare Diseases Health Network, AnDDI-Rares, Department of Genomics of Rare Diseases, Necker-Enfants Malades
Klea Vyshka – Project Manager & Legal Officer ERN ITHACA, Clinical Genetics Department, Robert Debré University Hospital, Paris