Research ArticlePregnancy
Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease
- View ORCID ProfileMark D. Pertile1,2,*,
- View ORCID ProfileMeredith Halks-Miller3,4,*,
- View ORCID ProfileNicola Flowers1,
- Catalin Barbacioru4,
- Sarah L. Kinnings3,
- View ORCID ProfileDarcy Vavrek3,
- View ORCID ProfileWilliam K. Seltzer3 and
- View ORCID ProfileDiana W. Bianchi5,6,†
- 1Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Victoria 3052, Australia.
- 2Department of Paediatrics, University of Melbourne, Melbourne, Victoria 3010, Australia.
- 3Illumina Inc., Redwood City, CA 94063, USA.
- 4GRAIL Inc., Menlo Park, CA 94025, USA.
- 5Tufts Medical Center and Tufts University School of Medicine, Boston, MA 02111, USA.
- 6National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
- ↵†Corresponding author. Email: diana.bianchi{at}nih.gov
↵* These authors contributed equally to this work.
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Science Translational Medicine 30 Aug 2017:
Vol. 9, Issue 405, eaan1240
DOI: 10.1126/scitranslmed.aan1240
Vol. 9, Issue 405, eaan1240
DOI: 10.1126/scitranslmed.aan1240
Mark D. Pertile
1Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Victoria 3052, Australia.
2Department of Paediatrics, University of Melbourne, Melbourne, Victoria 3010, Australia.
Meredith Halks-Miller
3Illumina Inc., Redwood City, CA 94063, USA.
4GRAIL Inc., Menlo Park, CA 94025, USA.
Nicola Flowers
1Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Victoria 3052, Australia.
Catalin Barbacioru
4GRAIL Inc., Menlo Park, CA 94025, USA.
Sarah L. Kinnings
3Illumina Inc., Redwood City, CA 94063, USA.
Darcy Vavrek
3Illumina Inc., Redwood City, CA 94063, USA.
William K. Seltzer
3Illumina Inc., Redwood City, CA 94063, USA.
Diana W. Bianchi
5Tufts Medical Center and Tufts University School of Medicine, Boston, MA 02111, USA.
6National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
