Scanning maternal plasma cell-free DNA as part of routine noninvasive prenatal testing (NIPT) may also enable presymptomatic detection of maternal tumors, according to a study published online in JAMA Oncology. This paper is being released to coordinate with a presentation at the annual meeting of the European Society of Human Genetics, held in Glasgow.

Noting that analysis of cell-free tumor DNA can be used to characterize and monitor cancers, Frédéric Amant, M.D., Ph.D., from the University of Leuven in Belgium, and colleagues examined the role of plasma DNA profiling for presymptomatic detection of tumors in pregnant women undergoing routine NIPT.

The researchers observed three aberrant genome representation profiles by parallel sequencing of maternal plasma cell-free DNA during NIPT in over 4,000 prospective pregnancies; these profiles could not be attributed to maternal or fetal genomic constitution.

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A maternal cancer was suspected and the patients were referred for whole-body diffusion-weighted magnetic resonance imaging.

Imaging revealed an ovarian carcinoma, a follicular lymphoma, and Hodgkin’s lymphoma, each of which was confirmed in follow-up pathologic and genetic investigations.

In the subsequent tumor biopsies, the copy number variations were concordant with the NIPT plasma genome representation profiles.

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“We show that maternal plasma cell-free DNA sequencing for noninvasive prenatal testing also may enable accurate presymptomatic detection of maternal tumors and treatment during pregnancy,” the authors write.

One author disclosed financial ties to Cartagenia, which provides software for clinical analysis of genomic data used in this study.


  1. Amant, Frédéric, MD, PhD, et al. “Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing.” JAMA Oncology. doi:10.1001/jamaoncol.2015.1883. [epub ahead of print]. June 5, 2015.