TY - JOUR
T1 - Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing
AU - Amant, Frédéric
AU - Verheecke, Magali
AU - Wlodarska, Iwona
AU - Dehaspe, Luc
AU - Brady, Paul
AU - Brison, Nathalie
AU - van den Bogaert, Kris
AU - Dierickx, Daan
AU - Vandecaveye, Vincent
AU - Tousseyn, Thomas
AU - Moerman, Philippe
AU - Vanderstichele, Adriaan
AU - Vergote, Ignace
AU - Neven, Patrick
AU - Berteloot, Patrick
AU - Putseys, Katrien
AU - Danneels, Lode
AU - Vandenberghe, Peter
AU - Legius, Eric
AU - Vermeesch, Joris Robert
PY - 2015
Y1 - 2015
N2 - 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
AB - 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
U2 - https://doi.org/10.1001/jamaoncol.2015.1883
DO - https://doi.org/10.1001/jamaoncol.2015.1883
M3 - Article
C2 - 26355862
SN - 2374-2445
VL - 1
SP - 814
EP - 819
JO - JAMA Oncology
JF - JAMA Oncology
IS - 6
ER -