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JAMA Oncol. 2015 Sep;1(6):814-9. doi: 10.1001/jamaoncol.2015.1883.

Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing.

Author information

1
Department of Obstetrics and Gynecology, Gynecological Oncology, Katholieke Universiteit (KU) Leuven-University of Leuven, University Hospitals, Leuven, Belgium.
2
Center for Human Genetics, KU Leuven-University of Leuven, University Hospitals Leuven, Belgium.
3
Department of Hematology, KU Leuven-University of Leuven, University Hospitals, Leuven, Belgium.
4
Department of Radiology, KU Leuven-University of Leuven, Leuven, Flanders, Belgium.
5
Department of Pathology, Translational Cell and Tissue Research, KU Leuven-University of Leuven, Leuven, Belgium.
6
Department of Obstetrics and Gynecology, Gynecologic Oncology, University Hospital, Leuven-General Hospital, Sint-Maarten Duffel, Belgium.
7
Department of Obstetrics and Gynecology, General Hospital H. Hart, Leuven, Belgium.
8
Department of Obstetrics and Gynecology, General Hospital Delta, Roeselare, Belgium.
9
Center for Human Genetics, KU Leuven-University of Leuven, University Hospitals Leuven, Belgium3Department of Hematology, KU Leuven-University of Leuven, University Hospitals, Leuven, Belgium.

Abstract

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.

PMID:
26355862
DOI:
10.1001/jamaoncol.2015.1883
[Indexed for MEDLINE]

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