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 08th December and students are invited also to join.
Main topics addressed
This course provides an overview of the subject matter and methodological principles in the complex field of prenatal medicine. It includes an introduction to AI and its application on fetal phenotypes, current state of fetal therapies, opportunities and limitations of fetal imaging and fetal pathology as well as prenatal clinical genetics in the area of genomic medicine.
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: 07 – (08) December 2022
Location: Imagine Institute, Paris, France
Language: English
Student workload: 15 hours
Contact hours: 8
Maximum number of participants: 60
Get together on 06th of December – more information to follow when participants are selected
The course takes place on 07th 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.
– 06th of December
Evening (06 pm): Welcome address by the Faculty members with a joint dinner
– 07th 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.
AI in prenatal imaging diagnosis – Monique Haak
Fetal therapies: state of the art – Ferdinand Dhombres
Prenatal therapy of Hypohidrotic Ectodermal Dysplasia – Smail Hadj-Rabia
Prenatal sequencing: when and how? – Gijs Santen
Morning Session 2 – Concurrent Workshops / (Please select when applying):
Concurrent workshops are dedicated to deepen the focus for participants with solid basic knowledge using practical exercises / case studies
“Upgrading variant classification based on phenotypes” (Isabel Filges and Gijs Santen):
Variant classification and reporting in a prenatal setting can be very challenging. Based on cases the participants will discuss and learn how prenatal/fetal phenotype details can inform variant interpretation in prenatal sequencing.
“From imaging to treatment” (Monique Haak and Ferdinand Dhombres):
In this session, the faculty will present and discuss a series of prenatal conditions for which imagining phenotypes guide the counselling for in-utero fetal therapies.
“From fetal pathology to diagnosis and backforward” (Marie-Hélène Saint Frison and Tania Atté-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.
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.
The focus of each workshop is designed to match the expertise of the participants in each of the other masterclasses.
“Upgrading variant classification based on phenotypes” (Isabel Filges and Gijs Santen):
Variant classification and reporting in a prenatal setting can be very challenging. Based on cases the participants will discuss and learn how prenatal/fetal phenotype details can inform variant interpretation in prenatal sequencing.
“From imaging to treatment” (Monique Haak and Ferdinand Dhombres):
In this session, the faculty will present and discuss a series of prenatal conditions for which imagining phenotypes guide the counselling for in-utero fetal therapies.
“From fetal pathology to diagnosis and backforward” (Marie-Hélène Saint Frison and Tania Atté-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.
– 08th 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/m5pxTtb6nFy9hE2i9 before the 15th of November 2023.
Application process
Applicants should fill in the application form for the Winter School here: https://forms.office.com/e/8vKkHB8Ss3. The application deadline is October 15, 2023.
Selected students will be notified by October 30, 2023.
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
Ferdinand Dhombres – Hôpital Armand-Trousseau, Assistance-Publique Hôpitaux de Paris
Isabel Filges – Medical Genetics, University Hospital Basel and University of Basel
Monique Haak – Leiden University Medical Center, Leiden
Smail Hadj-Rabia – Department of Dermatology, Necker-Enfants Malades University Hospital, Paris
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