Abstract

Over the past year we have worked with the National Cancer Institute to develop a scientific protocol to study pregnant women who are identified as having noninvasive prenatal cell-free DNA sequencing results that are suggestive of malignancy as an incidental finding. The protocol was approved by the Scientific Review Board of the NCI and the NIH IRB. During FY 2019 we hired a genetic counselor/data coordinator who started on the project on August 19, 2019. Together with NCI, we are working through the details of the protocol to ensure that once patient enrollment begins it will occur smoothly. In addition, we have responded to multiple patient and provider inquiries regarding the study. The acronym for the study will be the IDENTIFY Study: Incidental Detection of Maternal Neoplasia Through Non-Invasive Cell Free DNA Analysis.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Investigator-Initiated Intramural Research Projects (ZIA)
Project #
1ZIAHG200400-02
Application #
10022465
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
2
Fiscal Year
2019
Total Cost
Indirect Cost

  Institution

Name
National Human Genome Research Institute
Department
Type
DUNS #
City
State
Country
Zip Code

  Publications

Bianchi, Diana W; Chiu, Rossa W K (2018) Sequencing of Circulating Cell-free DNA during Pregnancy. N Engl J Med 379:464-473
Bianchi, Diana W (2018) Cherchez la femme: maternal incidental findings can explain discordant prenatal cell-free DNA sequencing results. Genet Med 20:910-917
Bianchi, Diana W (2018) Unusual Prenatal Genomic Results Provide Proof-of-Principle of the Liquid Biopsy for Cancer Screening. Clin Chem 64:254-256
Abou Tayoun, Ahmad N; Spinner, Nancy B; Rehm, Heidi L et al. (2018) Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations. Prenat Diagn 38:26-32
Wilkins-Haug, Louise; Zhang, Chengsheng; Cerveira, Eliza et al. (2018) Biological explanations for discordant noninvasive prenatal test results: Preliminary data and lessons learned. Prenat Diagn 38:445-458
Pertile, Mark D; Halks-Miller, Meredith; Flowers, Nicola et al. (2017) Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease. Sci Transl Med 9:
Smith, Jessica; Kean, Victoria; Bianchi, Diana W et al. (2017) Cell-free DNA results lead to unexpected diagnosis. Clin Case Rep 5:1323-1326