Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing

JAMA Oncol. 2015 Sep;1(6):814-9. 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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asymptomatic Diseases
  • Biomarkers, Tumor / blood
  • Biomarkers, Tumor / genetics*
  • Biopsy
  • DNA, Neoplasm / blood
  • DNA, Neoplasm / genetics*
  • Diffusion Magnetic Resonance Imaging
  • 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


  • Biomarkers, Tumor
  • DNA, Neoplasm