cfDNA screening for fetal aneuploidy facilitates maternal cancer detection

Sequencing of plasma cell-free DNA (cfDNA) is commonly performed during pregnancy to screen for fetal aneuploidy. Now, data from the ongoing prospective IDENTIFY study demonstrate that this strategy also enables prompt detection of occult maternal cancers.

IDENTIFY is enrolling individuals with unusual or nonreportable cfDNA fetal aneuploidy-screening results but without perceived signs or symptoms of cancer to undergo further standardized genome-wide cfDNA sequencing and a uniform cancer-screening protocol. The primary outcome is the presence of cancer after initial screening using this protocol including rapid whole-body MRI, various blood tests (including serum tumour markers), faecal occult blood test (FOBT), family and medical history, and physical examination.