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 has been presented to the Women's Malignancies branch and is now undergoing scientific review. In addition, we have written a position description for a genetic counselor/data coordinator for this protocol and have started interviews.

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1
Fiscal Year
2018
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Human Genome Research
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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
Bianchi, Diana W; Chiu, Rossa W K (2018) Sequencing of Circulating Cell-free DNA during Pregnancy. N Engl J Med 379:464-473
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