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

Related ObG Topics: