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Lessons learnt from prenatal exome sequencing.

Natalie Jane ChandlerElizabeth ScotchmanRhiannon MellisVijaya RamachandranRowenna RobertsLyn S Chitty
Published in: Prenatal diagnosis (2022)
Variant interpretation requires close communication between referring clinicians, with occasional additional examination of the fetus or parents and communication of evolving phenotypes. Inheritance filtering misses ∼5% of diagnoses. Panel analysis reduces but does not exclude incidental findings. Regular review of published literature is required to identify new reports that may aid classification.
Keyphrases
  • systematic review
  • pregnant women
  • machine learning
  • deep learning
  • palliative care
  • single cell
  • copy number
  • emergency department
  • randomized controlled trial
  • genome wide
  • drug induced