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Brief Report
September 2015

Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing

Author Affiliations
  • 1Department of Obstetrics and Gynecology, Gynecological Oncology, Katholieke Universiteit (KU) Leuven–University of Leuven, University Hospitals, Leuven, Belgium
  • 2Center for Human Genetics, KU Leuven–University of Leuven, University Hospitals Leuven, Belgium
  • 3Department of Hematology, KU Leuven–University of Leuven, University Hospitals, Leuven, Belgium
  • 4Department of Radiology, KU Leuven–University of Leuven, Leuven, Flanders, Belgium
  • 5Department of Pathology, Translational Cell and Tissue Research, KU Leuven–University of Leuven, Leuven, Belgium
  • 6Department of Obstetrics and Gynecology, Gynecologic Oncology, University Hospital, Leuven–General Hospital, Sint-Maarten Duffel, Belgium
  • 7Department of Obstetrics and Gynecology, General Hospital H. Hart, Leuven, Belgium
  • 8Department of Obstetrics and Gynecology, General Hospital Delta, Roeselare, Belgium

Copyright 2015 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.

JAMA Oncol. 2015;1(6):814-819. doi:10.1001/jamaoncol.2015.1883

Importance  Noninvasive prenatal testing (NIPT) for fetal aneuploidy by scanning cell-free fetal DNA in maternal plasma is rapidly becoming a major prenatal genetic test. Similar to placental DNA, tumor DNA can be detected in the plasma, and analysis of cell-free tumor DNA can be used to characterize and monitor cancers. We show that plasma DNA profiling allows for presymptomatic detection of tumors in pregnant women undergoing routine NIPT.

Observations  During NIPT in over 4000 prospective pregnancies by parallel sequencing of maternal plasma cell-free DNA, 3 aberrant genome representation (GR) profiles were observed that could not be attributed to the maternal or fetal genomic constitution. A maternal cancer was suspected, and those 3 patients were referred for whole-body diffusion-weighted magnetic resonance imaging, which uncovered an ovarian carcinoma, a follicular lymphoma, and a Hodgkin lymphoma, each confirmed by subsequent pathologic and genetic investigations. The copy number variations in the subsequent tumor biopsies were concordant with the NIPT plasma GR profiles.

Conclusions and Relevance  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.