Journée du 07 DECEMBRE 2022 : “BEST OF” meeting

09H30 : Introduction, Sophie COLLARDEAU-FRACHON, France

09H35 : A 28 week stillbirth from a mother with active Syphilis, Sagrika TRIPATHY, Australia

09H50 : Contribution of foetopathological examination for termination of pregnancy in the first trimester, Nathalie ROUX, France

10H05 : Severe phenotype of a metabolic disorder: the story of two siblings, Sihem DAROUICH, Tunisia

10H20 : Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect, Benedetta RUZZENENTE/Lucille BOUTOU/Aude TESSIER, France

10H35 : Focal lissencephaly in a fetus with vascular anomalies, Maria Paola BONASONI, Italy

10H50 : A case of brain asymetry, Suonavy KHUNG, France

Morning Break

11H20 : Congenital hemidysplasia: the genetics of monolateral defects, Silvia KALANTARI, Italy

11H35 : Biallelic DYNC2H1 splicing variants causing prenatal short-rib polydactyly syndrome: clinical, radiological, and histopathologic features, Rita QUENTAL, Portugal

11H50 : Rare variant of Aortic Arch Malformation associated with Mid-Aortic Syndrome, Silvia PLANAS, Spain

11H50 : Contribution of foetopathology and molecular biology in recurrent congenital heart disease, Johanna LOKMER, France

12H05 : Unexpected sudden death in a premature baby, vaginal delivered, Evelina SILVESTRI, Italy

12H20 : Lethal Pulmonary Hypertension: A Neonatal Unit Nightmare, Mafalda PINHO FIALHO, Portugal

12H35 : Thymic microscopic aspects of the newborn, Olivia MATEESCU, Romania

12H55 : Skin biopsies in Perinatal Autopsies, Craig PLATT/Anushama SHARMA, UK

Lunch break

14H00 : A rare osteochondysplasia recurring in siblings, Sophie PATRIER, France

14H05 : A skeletal dysplasia rarely reported in fetuses. Is it possible to recognize it?, Claire BENETEAU, France

14H20 : Mandibulofacial dysostosis Guion-Almeida Type : fœtal phenotypic spectrum, Adélie PERROT, France

14H35 : Diagnosis of familial non-autoimmune hyperthyroidism with kidney failure following a stillbirth autopsy, Camille DARCHA, France

14H50 : An entire spectrum of Beckwith-Wiedemann Syndrome, Diana Laura DIAZ PEREZ, Mexico

15H05 : Fetus or neonate: A brief overview of perinatal death investigation in the USA, Alex WILLIAMSON, USA

Cofee break

15H25 : A case of renal-hepatic-pancreatic dysplasia, Craig PLATT, UK (Video)

15H50 : 3M syndrome in fetal cases. Is it possible to recognize it? About two cases, Claire BENETEAU, France

16H05 : Fetal description of a new homozygous variant of the SMPD4 gene in association with a maternal isodisomy of chromosome 2, Aurore GARDE, France (Video)

16H20 : Recurrence of a multisystemic disorder in siblings and review of the literature, Madeleine JOUBERT, France (Video)

16H35 : Prenatal diagnosis of a jumping translocation, Constance WELLS, France (Video)

16H50 : Input of genome sequencing in fetopathology: an experience of 107 probands, Agnese FERESIN, Italy (Video)