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Grand Rounds

Cohort Study: When Noninvasive Prenatal Screening Reveals a Potential Maternal Cancer

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BACKGROUND AND PURPOSE:

  • Rarely, NIPS can reveal suspected maternal malignancies
  • Heesterbeek et al. (Journal of Clinical Oncology, 2022) described the clinical characteristics, chromosomal aberrations, and diagnostic routing of patients with a confirmed malignancy revealed through NIPS

METHODS:

  • Retrospective cohort study
  • Population
    • Patients in a Dutch nationwide NIPS implementation study
  • Exposures
    • NIPS results indicative of a malignancy referred for tumor screening
  • Study design
    • The authors reviewed the NIPS profiles of patients with confirmed malignancies
    • The pattern of chromosomal aberrations related to tumor type was analyzed
    • Authors also evaluated the diagnostic contribution of clinical and genetic examinations

RESULTS:

  • 168,452 genome-wide NIPS assays (DNA assessed beyond the major aneuploidies)
    • Results suspicious for malignancy in genome-wide NIPS assays: 0.03% (50 cases)
      • Malignancies confirmed: 33.3%
    • Of these malignancy suspicious NIPT cases, 23 had multiple chromosomal aberrations
      • Malignancies confirmed among this population: 69.6%
  • 63,444 targeted NIPS assays (DNA targeted to include major aneuploidies only)
    • Results suspicious for malignancy in targeted NIPT assays: 0.005% (3 cases)
      • Malignancies confirmed: 66.7%
  • Among confirmed malignancies, tumor types and stages differed, but hematologic malignancies were predominant
    • 12 of 18 confirmed malignancies
  • NIPS data showed recurrent gains and losses in primary mediastinal B-cell lymphomas and classic Hodgkin lymphomas
  • Most informative methods for actual malignancy diagnosis
    • MRI
    • CT

CONCLUSION:

  • Routine NIPS assays can reveal maternal malignancies, but reports suspicious for malignancy are rare (0.03%)
    • When multiple chromosomal aberrations were revealed with NIPS, the incidence of confirmed malignancy in suspicious cases was high
  • The authors suggest that suspicious cases be referred for extensive oncologic examination, which may be guided by tumor-specific hallmarks identified in the NIPS DNA profile

Learn More – Primary Sources:

Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study

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Related ObG Topics:

Counseling Women with NIPT Results Suggesting Cancer
What Is the Best Follow-Up Diagnostic Test After a High-Risk NIPT Result?
What is the Best Strategy for Fetal Aneuploidy Screening?

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