Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing

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 monito...

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Bibliographic Details
Published in:	JAMA oncology Vol. 1; no. 6; p. 814
Main Authors:	Amant, Frédéric, Verheecke, Magali, Wlodarska, Iwona, Dehaspe, Luc, Brady, Paul, Brison, Nathalie, Van Den Bogaert, Kris, Dierickx, Daan, Vandecaveye, Vincent, Tousseyn, Thomas, Moerman, Philippe, Vanderstichele, Adriaan, Vergote, Ignace, Neven, Patrick, Berteloot, Patrick, Putseys, Katrien, Danneels, Lode, Vandenberghe, Peter, Legius, Eric, Vermeesch, Joris Robert
Format:	Journal Article
Language:	English
Published:	United States 01-09-2015
Subjects:	Asymptomatic Diseases Biomarkers, Tumor - blood Biomarkers, Tumor - genetics Biopsy Diffusion Magnetic Resonance Imaging DNA, Neoplasm - blood DNA, Neoplasm - genetics Female Gene Expression Profiling Genetic Predisposition to Disease Genetic Testing - methods Hodgkin Disease - blood Hodgkin Disease - diagnosis Hodgkin Disease - genetics Hodgkin Disease - therapy Humans In Situ Hybridization, Fluorescence Lymphoma, Follicular - blood Lymphoma, Follicular - diagnosis Lymphoma, Follicular - genetics Lymphoma, Follicular - therapy Ovarian Neoplasms - blood Ovarian Neoplasms - diagnosis Ovarian Neoplasms - genetics Ovarian Neoplasms - therapy Phenotype Predictive Value of Tests Pregnancy Pregnancy Complications, Neoplastic - blood Pregnancy Complications, Neoplastic - diagnosis Pregnancy Complications, Neoplastic - genetics Pregnancy Complications, Neoplastic - therapy Prenatal Diagnosis - methods Prognosis Whole Body Imaging
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Summary:	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. 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. 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.
ISSN:	2374-2445
DOI:	10.1001/jamaoncol.2015.1883