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Cell-free DNA results lead to unexpected diagnosis.

Jessica SmithVictoria KeanDiana W BianchiGerald FeldmanNancie PetrucelliMichael S SimonBernard Gonik
Published in: Clinical case reports (2017)
Maternal cell-free DNA (cfDNA) results that are discordant with the diagnostic fetal karyotype should prompt further investigation. If deeper analysis of the cfDNA results demonstrates a "saw-tooth" pattern characteristic of genome-wide imbalance, maternal malignancy is suggested. Identifying the maternal malignancy can, however, be difficult.
Keyphrases
  • birth weight
  • genome wide
  • pregnancy outcomes
  • pregnant women
  • gene expression
  • physical activity