Multidisciplinary Fetal Diagnostics Winter School – 2024 edition
04 December 2024
Paris
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 Thursday 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 prenatal skeletal and growth disorders. It includes an introduction to skeletal disorders as well as the classification of skeletal dysplasia, diagnostic procedures and perinatal management and fetal therapies, current state of prenatal relevant imprinting disorders. 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 and future of fetal therapies
Importance of interdisciplinary work for family counselling
Practical Details
Format: Physical
Dates: 04 December 2024
Location: Imagine Institute, Paris, France
Language: English
Student workload: 15 hours
Contact hours: 8
Maximum number of participants: 60
Get together on 03rd of December – more information to follow when participants are selected
The course takes place on 04th of December from 9am 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.
– 03rd of December
Evening: Joint dinner with the faculty members
– 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 skeletal dysplasia – Valérie Cormier-Daire
Prenatal imaging and management of skeletal disorders – Karl Oliver Kagan
Imprinting disorders – Thomas Eggermann
Prenatal Therapy – osteogenesis imperfecta – Lilian Walther Jallow (tbc)
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 – Testing strategy” (Isabel Filges and Thomas Eggermann):
The ultrasound finding of short long bones or intrauterine growth restriction, isolated or nonisolated, is very challenging. Based on cases the participants will discuss and learn how prenatal/fetal phenotype details can inform the genetic testing strategy to obtain a diagnosis informing counselling on prognosis and management.
“Imaging – Imaging, diagnosis and management” (Karl Oliver Kagan and Andreas Dufke):
In this session, the faculty will present and discuss a series of prenatal skeletal conditions for which imagining phenotypes guide the counselling for genetic analysis and perinatal management.
“From fetal pathology to diagnosis and backforward” (Marie-Hélène Saint Frison and Tania Attié-Bitach):
Participants will learn the benefice and input of fetal pathology for the diagnosis of genetic disorders. 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 here: : https://forms.gle/RVpuLdp63CcdNyhF8 before the 15th of November 2024.
Application process
Applicants should fill in the application form for the Winter School here: https://forms.office.com/e/v3TDxMH7x3. The application deadline is October 31, 2024.
Selected students will be notified by November 5, 2024.
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. A limited number of scholarships (five) is available only for participants whose employing institution cannot cover these costs (please see the application form to the Winter School for more information). The participation to the course is free of charge.
Faculty
Tania Attie-Bitach – Department of Genomics of Rare Diseases, Necker-Enfants Malades University Hospital, Paris
Valérie Cormier-Daire – Department of Genomics of Rare Diseases, Necker-Enfants Malades University Hospital, Paris
Andreas Dufke – Institute of Medical Genetics and Applied Genomics, University Hospital, Tübingen
Thomas Eggermann – Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany
Isabel Filges – Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel and University of Basel, Basel, Switzerland
Karl Oliver Kagan – Department for women’s health, University Hospital of Tübingen, Germany
Marie-Hélène Saint Frison – Fetal Pathology Unit, Department of Genetics, Robert Debré University Hospital, Paris
Gijs Santen – Leiden University Medical Center, Leiden
Klea Vyshka – Project Manager & Legal Officer ERN ITHACA, Clinical Genetics Department, Robert Debré University Hospital, Paris