1. The Fetus with Ganglionic Eminence Abnormality: Head Size and Extracranial Sonographic Findings Predict Genetic Diagnoses and Postnatal Outcomes
- Author
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Andrea Righini, L Fender, Anand Vasudevan, S Sinnott, Jenny C. Taylor, Michael C Fahey, Andrew Dobrotwir, E Alibrahim, Jason Pinner, K Frawley, Sarah A. Sandaradura, J. Christie, S A Manikkam, Romina Romaniello, and Stacy Goergen
- Subjects
Pathology ,medicine.medical_specialty ,Hemimegalencephaly ,Pediatrics ,030218 nuclear medicine & medical imaging ,03 medical and health sciences ,0302 clinical medicine ,Fetus ,Pregnancy ,medicine ,Polymicrogyria ,Humans ,Radiology, Nuclear Medicine and imaging ,Fetal head ,Megalencephaly ,Exome sequencing ,Cobblestone Lissencephaly ,Polydactyly ,business.industry ,medicine.disease ,Hydrocephalus ,Female ,Neurology (clinical) ,business ,030217 neurology & neurosurgery - Abstract
BACKGROUND AND PURPOSE: Ganglionic eminence abnormalities on fetal MR imaging are associated with cerebral malformations. Their presumed genetic basis and associated postnatal outcomes remain largely unknown. We aimed to elucidate these through a multicenter study. MATERIALS AND METHODS: Between January 2010 and June 2020, seven hospitals in 2 countries performing fetal MR imaging examinations identified fetal MR imaging studies demonstrating ganglionic eminence enlargement, cavitation, or both. Cases with no genetic diagnosis, no whole exome sequencing, or no outcome of a liveborn child were excluded. Head size was classified as large (fronto-occipital diameter > 95th centile), small (fronto-occipital diameter
- Published
- 2021