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

这项研究的首字母缩写是识别研究：通过非侵入性细胞游离DNA分析意外检测母亲肿瘤。 在过去的一年里，我们接触了关键的利益相关者，包括在美国进行产前cfDNA分析的大型商业实验室、全国遗传顾问协会、产前遗传顾问以及当地遗传学和母婴医学实践，以确定参与者招募的来源。 在2019年12月NIH IRB方案最终获得批准后，到目前为止，已有6名参与者参加了这项研究。五名参与者在登记时已经怀孕，一名是产后。尚未登记任何控制参与者。 参与者在临床中心接受妇女恶性肿瘤分会(WMB)成员的初步评估，以诊断可能的肿瘤。所有收集的临床、实验室和影像信息都会在每月的多学科团队会议上进行讨论。如果发现肿瘤，结果将与参与者和转诊医生分享。参与者将在产后接受几年的跟踪调查，以收集所有可用的医疗信息。

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.