Cell-free DNA results lead to unexpected diagnosis.

ABSTRACT: 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.

SUBMITTER: Smith J 

PROVIDER: S-EPMC5538058 | biostudies-other | 2017 Aug

REPOSITORIES: biostudies-other