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Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case-series.

Leo PomarJosé OchoaSara CabetThierry A G M HuismanDario PaladiniPhilipp KlaritschAurore GalmicheFlorian PrayerSebastián GacioKarina Krajden HaratzGustavo MalingerTim VAN MieghemDavid BaudBryann BromleySébastien LebonEstelle DubrucYvan VialLaurent Guibaud
Published in: Prenatal diagnosis (2022)
Despite absence of genetic test to confirm prenatal diagnosis of AS, this combination of CNS and extra-CNS fetal findings allows delineation of a characteristic imaging pattern of AS, especially when facing dysgenesis of the corpus callosum.
Keyphrases
  • high resolution
  • blood brain barrier
  • case report
  • genome wide
  • clinical trial
  • cross sectional
  • gene expression
  • copy number
  • fluorescence imaging
  • mass spectrometry