Cell-free DNA results lead to unexpected diagnosis.
Jessica SmithVictoria KeanDiana W BianchiGerald FeldmanNancie PetrucelliMichael S SimonBernard GonikPublished 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.