Open AccessCell‐free DNA results lead to unexpected diagnosis
Author(s) -
Smith Jessica,
Kean Victoria,
Bianchi Diana W.,
Feldman Gerald,
Petrucelli Nancie,
Simon Michael,
Gonik Bernard
Publication year - 2017
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1051
Subject(s) - cell free fetal dna , malignancy , medicine , karyotype , computational biology , genetics , prenatal diagnosis , pathology , pregnancy , fetus , chromosome , biology , gene
Key Clinical Message 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.