Multidisciplinary Fetal Diagnostics Winter School


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 – on Wednesday 07th December and students are invited also to join.

Main topics addressed

This first course provides an overview of the subject matter and methodological principles in the complex field of prenatal medicine. It includes an introduction to HPO and its application on fetal phenotypes, 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
  • Interpreting genomic results in fetal medicine
  • 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 07th of December at 6pm CET

The course takes place on 08th of December from 9am to 5pm CET

For further information or if you have any questions, please send an e-mail to:


The course will consist of a mixture of selected traditional lectures, workshops, and tutorials.

– 07th of December

SOFFOET meeting (SoFFoet – – from 09.30 am – 05.30 pm. To apply please fill in the form here: before the 15th of November 2022.

Evening (06 pm): Welcome address by the Faculty members with buffet

– 08th 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.

Introduction to HPO – Peter Robinson

Fetal imaging in the first and second trimester – Karl Oliver Kagan

Fetal Pathology: the deepest fetal phenotyping – Sophie Collardeau-Frachon

Prenatal Clinical Genetics – Isabel Filges

Morning Session 2 – Concurrent Workshops – Master classes / (Please select when applying):

Concurrent workshops are dedicated to deepen the focus for participants with solid basic knowledge using practical exercises / case studies

“HPO and related diagnostic tools” (Peter Robinson):

Participants will learn how to use the Human Phenotype Ontology (HPO) to represent clinical findings for differential diagnosis. We will use two freely available online tools – the Phenomizer for differential diagnosis and the Exomiser for HPO-based prioritization of variants in exome or genome sequencing. Laptops are required. Main audience: Geneticists

“From imaging to diagnosis” (Karl Oliver Kagan and geneticist):

Participants will learn about ultrasound markers for chromosomal abnormalities and genetic defects and the appropriate method of clarification.

Main audience: MFM specialists in training

“Fetal syndromology: don’t miss it!” (Robert Debré Team – Fabien Guimiot, Suonavy Khung, Marie-Hélène Saint Frison):

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. 
Main audience: Pathologists, Fetal Pathologists in training

Afternoon Session 1 + 2 – Workshops

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.

“How to use HPO” (Peter Robinson):

The participants will learn to convert clinical descriptions into HPO terms.

“From imaging to diagnosis” (Karl Oliver Kagan and geneticist):

The participants will learn about the interaction between the fetal medicine experts and the geneticists.

“Why fetal pathology is important” (Tania Attié-Bitach & Isabel Filges):              
With interactive case discussions and active participation from the audience, the participants will learn what fetal pathology can bring as compared to prenatal imaging, how it can orient the diagnosis, help genetic interpretation of variants, and contribute to the description of prenatal signs or rare disorders.

Evening Session – Use Case Discussion / Case presentation (Main Auditorium):

The faculty together with the participants will discuss selected submitted cases.

Application process

Applicants should fill in the application form for the Winter School here: The application deadline is October 31, 2022.

Selected students will be notified by November 05, 2022.

This course will be held at Imagine Institute ( Participating students might be asked to provide COVID-19 immunization proof when entering the location depending on the regulations in force in December.

Travel, accommodation and fees

Participants are expected to organise their own travel and accommodation. A limited number of scholarships 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.


Tania Attie-Bitach – Department of Genomics of Rare Diseases, Necker-Enfants Malades University Hospital, Paris

Sophie Collardeau-Frachon – Department of Pathology, Claude Bernard University Hospital, Lyon

Andreas Dufke – Institute of Medical Genetics and Applied Genomics, University Hospital, Tübingen

Isabel Filges – Medical Genetics, University Hospital Basel and University of Basel

Fabien Guimiot – Fetal Pathology Unit, Department of Genetics, Robert Debré University Hospital, Paris

Karl Kagan – Women University Hospital, Tübingen

Suonavy Khung – Fetal Pathology Unit, Department of Genetics, Robert Debré University Hospital, Paris

Peter Robinson – The Jackson Laboratory for Genomic Medicine, Farmington

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