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. Over the past year we have continued to reach out to key stakeholders through local, national and international presentations to establish sources of participant recruitment. Following final NIH IRB protocol approval in December 2019, to date 25 participants have enrolled in the study. Twenty-two participants were pregnant at the time of enrollment and three were post-partum. One control participant has enrolled. Participants undergo an initial evaluation at the Clinical Center by a member of the Women's Malignancy Branch (WMB) 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. Participants will be followed for several years post-partum to collect all available medical information. During the past year there have been a number of challenges to recruitment, including prospective participants reluctance to travel during the pandemic, falsely reassuring medical advice provided by oncologists, obstetricians and nurse-midwives that prevented further follow-up, and generalized anxiety.