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.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538058PMC
http://dx.doi.org/10.1002/ccr3.1051DOI Listing

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