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Noninvasive prenatal screening and maternal malignancy: role of imaging

  • Special Section: Cancer in Pregnancy
  • Published:
Abdominal Radiology Aims and scope Submit manuscript

Abstract

Noninvasive prenatal screening (NIPS) tests for fetal chromosomal anomalies through maternal blood sampling. It is becoming widely available and standard of care for pregnant women in many countries. It is performed in the first trimester of pregnancy, usually between 9 and 12 weeks. Fragments of fetal cell-free deoxyribonucleic acid (DNA) floating in maternal plasma are detected and analyzed by this test to assess for chromosomal aberrations. Similarly, maternal tumor-derived cell-free DNA (ctDNA) released from the tumor cells also circulates in the plasma. Hence, the presence of genomic anomalies originating from maternal tumor-derived DNA may be detected on the NIPS-based fetal risk assessment in pregnant patients. Presence of multiple aneuploidies or autosomal monosomies are the most commonly reported NIPS abnormalities detected with occult maternal malignancies. When such results are received, the search for an occult maternal malignancy begins, in which imaging plays a crucial role. The most commonly detected malignancies via NIPS are leukemia, lymphoma, breast and colon cancers. Ultrasound is a reasonable radiation-free modality for imaging during pregnancy, specially when there are localizing symptoms or findings, such as palpable lumps. While there are no consensus guidelines on the imaging evaluation for these patients, when there are no localizing symptoms or clinically palpable findings, whole body MRI is recommended as the radiation-free modality of choice to search for an occult malignancy. Based on clinical symptoms, practice patterns, and available resources, breast ultrasound, chest radiographs, and targeted ultrasound evaluations can also be performed initially or as a follow-up for MRI findings. CT is reserved for exceptional circumstances due to its higher radiation dose. This article intends to increase awareness of this rare but stressful clinical scenario and guide imaging evaluation for occult malignancy detected via NIPS during pregnancy.

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Authors and Affiliations

  1. Department of Radiology, Division of Body Imaging, Stanford University School of Medicine, Palo Alto, CA, USA

    Priyanka Jha

  2. Department of Oncology, KU Leuven, Leuven, Belgium

    Liesbeth Lenaerts & Frédéric Amant

  3. Department of Human Genetics, KU Leuven, Leuven, Belgium

    Joris Vermeesch

  4. Centre of Human Genetics, University Hospitals Leuven, Leuven, Belgium

    Joris Vermeesch

  5. Department of Obstetrics and Gynecology, University of California San Francisco, San Francisco, CA, USA

    Mary Norton

  6. Gynecology and Obstetrics, University Hospitals Leuven, Leuven, Belgium

    Frédéric Amant

  7. Center for Gynecological Oncology Amsterdam, Academic Medical Centre Amsterdam, University of Amsterdam, Amsterdam, The Netherlands

    Frédéric Amant

  8. The Netherlands Cancer Institute, Antoni Van Leeuwenhoek Hospital, Amsterdam, The Netherlands

    Frédéric Amant

  9. Department of Radiology, Obstetrics & Gynecology, University of Toronto, Sunnybrook Health Sciences Centre, Toronto, ON, Canada

    Phyllis Glanc

  10. Department of Radiology and Biomedical Imaging, University of California San Francisco, San Francisco, CA, USA

    Liina Poder

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  1. Priyanka Jha
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Correspondence to Priyanka Jha.

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Jha, P., Lenaerts, L., Vermeesch, J. et al. Noninvasive prenatal screening and maternal malignancy: role of imaging. Abdom Radiol 48, 1590–1598 (2023). https://doi.org/10.1007/s00261-023-03913-1

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  • DOI: https://doi.org/10.1007/s00261-023-03913-1

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