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

异常或不可报告的 NIPT 结果的自然史和评估及其与母体肿瘤的关联

• 批准号: 10267124
• 负责人: Diana Bianchi
• 金额: $ 6.24万
• 依托单位: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10267124
• 关键词: Amniocentesis; Aneuploidy; Biochemistry; Biocompatible Materials; Biological; Blood; Blood Circulation; Case Study; Chorionic Villi Sampling; Chromosomes; Clinical; Clinical Management; DNA analysis; DNA sequencing; Detection; Diagnosis; Diagnostic; Diagnostic tests; Enrollment; Evaluation; Fetus; Genetic; Genetic Fingerprintings; Genomics; Guidelines; Hematopoietic System; Image; Institutional Review Boards; Karyotype; Laboratories; Malignant Neoplasms; Maternal-fetal medicine; Medical; Natural History; Neonatal; Neoplasms; Participant; Patau' s syndrome; Patient Recruitments; Perinatal; Physicians; Placenta; Plasma; Plasma Cells; Positive Test Result; Postpartum Period; Predictive Value; Pregnancy; Pregnant Women; Protocols documentation; Proxy; Publishing; Reporting; Retrospective Studies; Risk; Sampling; Serum; Societies; Solid Neoplasm; Source; Suggestion; Test Result; Testing; Time; Ultrasonography; United States; United States National Institutes of Health; Woman; Work; acronyms; cell free DNA; circulating DNA; clinical Diagnosis; clinical care; clinical center; clinical sequencing; fetal; follow-up; genetic counselor; meetings; member; multidisciplinary; neoplastic cell; pregnant; prenatal; prenatal testing

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.

这项研究的首字母缩写是识别研究：通过非侵入性无细胞DNA分析偶然检测母体肿瘤。 在过去的一年里，我们已经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，国家遗传咨询师协会，产前遗传咨询师，以及当地的遗传学和母胎医学实践，以建立参与者招募的来源。 在2019年12月最终NIH IRB方案批准后，迄今为止已有6名参与者参加了研究。5名受试者在入组时已怀孕，1名为产后。尚未招募对照受试者。 参与者在临床中心接受由妇女咨询分支（WMB）成员进行的初步评估，以诊断可能的肿瘤。所有收集的临床、实验室和影像学信息在每月的多学科小组会议上进行讨论。如果发现肿瘤，结果将与参与者和转诊医生共享。 参与者将在产后几年内接受随访，以收集所有可用的医疗信息。