Prenatal Diagnosis & Fetal Anomalies

Hiba M’Kadmi, Karoui Abir, Chanoufi Mohamed Bedis, Sahraoui Mariem (MSc), Masmoudi Aida, Achour Radhouane

A comprehensive approach to diagnosing and managing a fetus with achondrogenesis type 2: a case study

https://doi.org/10.53260/EGO.246028

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Jelloul Rayhane, Zangar Salim, Samaali Khaoula, Masmoudi Aida

Antenatal features and management of alobar holoprosencephaly: a case study

https://doi.org/10.53260/EGO.257014

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Camille, Patricia Steenhaut, Marie Laterre, Pierre Bernard

Association between Noonan syndrome and umbilical-portal-systemic venous shunt: a double case report

https://doi.org/10.53260/EGO.257026

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Severine Doneux, Jean-Marc Biard, Patricia Steenhaut, Delphine Hoton, Pierre Bernard

Challenging antenatal differential diagnosis of a congenital lung malformation. A case report of a hybrid lesion: congenital pulmonary airway malformation type II and bronchial atresia

https://doi.org/10.53260/EGO.246017

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Nadia Fichera, Vito Leanza, Morena Maria Monteleone, Giuliana Chiara Maugeri, Gianluca Leanza, Antonio Carbonaro, Salvatore Carbonaro, Maria Giovanna Verzì, Marco Antonio Palumbo

Corpus callosum agenesis: prenatal diagnosis and neurodevelopmental outcome

https://doi.org/10.53260/EGO.202042

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Jean-Marc Biard, Hélène Englebert, Anne Destrée, Valérie Benoit, Karlien Carbonez, Matthieu Ortegat, Pierre Bernard, Yves Sznajer

Diagnosis of Kabuki syndrome with unreported KMT2D pathogenic variant: contribution of prenatal facial dysmorphology analysis and whole exome sequencing – about a clinical report and review of the literature

https://doi.org/10.53260/EGO.235037

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Jean Vandepoel, Pierre Bernard

Discovery of cephalopagus conjoined twins at an early term of 8+6 weeks: case report

https://doi.org/10.53260/EGO.268019

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Valentine Dewandre, Frédéric Chantraine, Jean-Stéphane Gatot, Saskia Bulk, Christine Van Linthout

Expected performance of genome-wide cell-free DNA testing in pregnancies with a fetus with an isolated nuchal translucency between the 95th-99th percentiles

https://doi.org/10.53260/EGO.246027

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Catherine Galopin, Xavier Denoo, Paul Jamblin, Katty Delbecque, Saskia Bulk, Fréderic Chantraine, Michelle Nisolle

Lethal metatropic dwarfism: a case report

https://doi.org/10.53260/EGO.213016

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Silvia Feliu, Gabriela Palacios, Elisabet Clua, Pilar Prats, Gerard Albaigés, Alberto Rodríguez, Bernat Serra

Mandibulofacial dysostosis with microcephaly syndrome diagnosed by prenatal exome sequencing: a case report

https://doi.org/10.53260/EGO.213036

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Raffaella Cattani, Francesca Monacci, Chiara Letto, Stella Zandri, Andrea Giannini, Tommaso Simoncini

Middle interhemispheric variant of holoprosencephaly in a 21-week fetus: a case report

https://doi.org/10.53260/EGO.213035

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Marie Jacques, Patricia Steenhaut, Jean-Marc Biard, Dimitri Van der Linden, Marie-Cécile Nassogne, Philippe Clapuyt, Corinne Hubinont, Pierre Bernard

Postnatal outcome of fetuses with congenital cytomegalovirus-associated cerebral lesions

https://doi.org/10.53260/EGO.22402036

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Laura del Junco, Rosa Bermejo, Isabel Ochando, Francisco Carratalá, Francisco Quereda

Prenatal diagnosis by exome sequencing: Aicardi-Goutières syndrome: case report and literature review

https://doi.org/10.53260/EGO.246018

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Mauricio Tajada, María José Boillos, Guillermo Azumendi, Juan Carlos Bello, Alberto Galindo, Nerea Maiz, Francisca Molina, Walter Plasencia, Pilar Prats, Enrique Tormos, Faustino R. Pérez-López

Prenatal diagnosis of congenital heart defects: quality analysis of telemedicine using four-dimensional ultrasound with spatiotemporal image correlation

https://doi.org/10.53260/EGO.213028

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Mark I. Evans, Robert D. Eden, David W. Britt, Shara M. Evans, Barry S. Schifrin

Re-conceptualizing fetal monitoring

https://doi.org/10.53260/ego.191013

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Alix Doupagne, Marie Laterre, Xavier Capelle, Sébastien Grandfils, Frédéric Chantraine, Julie Fudvoye, Frédéric Kridelka, Michelle Nisolle, Christin Van Linthout

Routine NIPT: the rise in fetal sex discordance and earlier diagnosis of disorders of sex development

https://doi.org/10.53260/EGO.22402037

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