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Prenatal and preimplantation genetic diagnosis for single gene disorders: A population-based study from 1977 to 2016.

Alice PoultonSharon LewisLisa HuiJane L Halliday
Published in: Prenatal diagnosis (2018)
Our population-wide analysis has demonstrated a steady demand for PNDx for single gene disorders over the past decade, in contrast to the rapidly increasing utilisation of PGT-M. PGT-M appears to be the preferred testing modality for adult onset disorders.
Keyphrases
  • genome wide
  • copy number
  • pregnant women
  • magnetic resonance
  • dna methylation
  • gene expression
  • genome wide analysis