Fetal medicine and pathology (WG6)

Workgroup Chair and co-Chairs

Congenital anomalies can be detected and sometimes treated before birth. This workgroup thus focuses on generating and sharing knowledge on fetal pathology, prenatal diagnosis and fetal medicine through the following projects:

Winter School on Fetal Medicine

On 2023, ITHACA launched the first edition of its new Winter School on Fetal Diagnoses, to address a learning gap in fetal phenotyping, genetic analysis, and data interpretation. As a single-day course it includes basic lectures and in depth-workshops on phenotyping, prenatal genomic testing, and the implications for genetic counselling.

This 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. 

Here to know more about our Winter School: ERN-ITHACA Winter School – ERN ITHACA

Photo of the 2023 Edition of the Winter school, at the Imagine Institute in Paris

Foetal Medicine Textbook

The French Society of Fetopathology are revising their book on practical foetal and placental pathology (2008). Upon completion, ERN-ITHACA will translate it into English and publish it online (Moodle/PDF). The book will focus on topics related to foetal autopsy – not only the description of morphological abnormalities, but their causes and mechanisms. In addition, it will discuss other equally important aspects, including the placenta and the mother’s health. 

Collaborations on fetal pathology

This taskforce was set up to further knowledge on fetal pathology by providing new Orphanet summaries for fetal defects (see our page on Orphanet), and by expanding the Human Phenotype Ontology database with new feotal phenotype descriptions (see what is the Human Phenotype Ontology project).