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Retrospective identification of prenatal fetal anomalies associated with diagnostic neonatal genomic sequencing results.

Kathy Zhang-RutledgeMallory OwenNathaly M SweeneyDavid DimmockStephen F KingsmoreLouise C Laurent
Published in: Prenatal diagnosis (2022)
Critically ill infants with diagnostic genomic sequencing were more likely to have multiple anomalies and anomalies of the extremities on fetal imaging. Among almost all infants with suspected fetal anomalies and diagnostic genomic sequencing results, prenatal diagnosis would have likely altered clinical management.
Keyphrases
  • single cell
  • copy number
  • high resolution
  • pregnant women
  • pulmonary embolism
  • cross sectional
  • gene expression
  • mass spectrometry