Natural history and evaluation of abnormal or nonreportable NIPT results and its association with maternal neoplasia

National Human Genome Research Institute

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Abstract

The acronym for this study is the IDENTIFY Study: Incidental DEtection of maternal Neoplasia Through non-Invasive cell Free DNA analYsis. Following final NIH IRB approval of this protocol, the first IDENTIFY study participant enrolled in December 2019. Recruitment, although initially impacted by the COVID pandemic, has been acceptable. Participants undergo an initial evaluation at the Clinical Center to diagnose possible neoplasia. All collected clinical, laboratory and imaging information is discussed in monthly multidisciplinary team meetings. If neoplasia is discovered, results are shared with participants and referring physicians and are actionable. Participants will be followed for several years post-partum to collect all available medical information. To date, we have observed a variety of biological explanations for participants abnormal or non-reportable NIPT results, including confined placental mosaicism, clonal hematopoiesis, benign uterine leiomyomas, and malignant neoplasms. Participants with cancer have been diagnosed with a range of tumor types and stages. In addition to completing a clinical evaluation to diagnose possible neoplasia, participants engage in qualitative interviews to help us understand the personal impact of receiving NIPT results suggestive of maternal malignancy and being offered a clinical evaluation to detect possible cancer during pregnancy. Individuals are interviewed before their visit to the NIH and after they have learned the results of their clinical evaluations. We presented our preliminary findings as a poster and Lightning Communication (5-minute talk) at the International Society for Prenatal Diagnosis Conference in Montreal (June 2022). Our poster Receiving Prenatal Screening Results Suggestive of Maternal Cancer: A Qualitative Exploration of Participants in the NIH Identify Study tied for the Best Poster Award. Ongoing challenges to recruitment include prospective participants reluctance to travel, falsely reassuring medical advice and falsely reassuring incomplete workups provided by local providers, oncologists, obstetricians and nurse-midwives that prevented further follow-up. We continue to reach out to key stakeholders through local, national and international presentations to establish sources of participant recruitment and to emphasize the importance of a timely and thorough clinical evaluation when NIPT results are suggestive of maternal malignancy. This was also the topic of an editorial we published in the Journal of Clinical Oncology that highlights the barriers to implementing a coordinated diagnostic and treatment plan for pregnant women who receive malignancy suspicious NIPT results in the United States.