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

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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 reached out to key stakeholders, including the large commercial laboratories performing prenatal cfDNA analysis in the United States, the National Society of Genetic Counselors, prenatal genetic counselors, and local genetics and maternal-fetal medicine practices to establish sources of participant recruitment. Following final NIH IRB protocol approval in December 2019, six participants have enrolled in the study to date. Five participants were pregnant at the time of enrollment and one was post-partum. No control participants have yet been 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.