Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease-Reference-Cited by-同舟云学术

Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease

Published:2017-08-30 Issue:405 Volume:9 Page:
ISSN:1946-6234
Container-title:Science Translational Medicine
language:en
Short-container-title:Sci. Transl. Med.

Author:

Pertile Mark D.¹²^ORCID,Halks-Miller Meredith³⁴^ORCID,Flowers Nicola¹^ORCID,Barbacioru Catalin⁴,Kinnings Sarah L.³,Vavrek Darcy³^ORCID,Seltzer William K.³^ORCID,Bianchi Diana W.⁵⁶^ORCID

Affiliation:

1. Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Victoria 3052, Australia.

2. Department of Paediatrics, University of Melbourne, Melbourne, Victoria 3010, Australia.

3. Illumina Inc., Redwood City, CA 94063, USA.

4. GRAIL Inc., Menlo Park, CA 94025, USA.

5. Tufts Medical Center and Tufts University School of Medicine, Boston, MA 02111, USA.

6. National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Abstract

Maternal plasma cell-free DNA sequencing reveals rare autosomal trisomies that are associated with perinatal complications.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

Reference38 articles.

1. Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis

2. DNA Sequencing versus Standard Prenatal Aneuploidy Screening

3. Cell-free DNA Analysis for Noninvasive Examination of Trisomy

4. Follow-up of multiple aneuploidies and single monosomies detected by noninvasive prenatal testing: implications for management and counseling

5. Maternal Mosaicism Is a Significant Contributor to Discordant Sex Chromosomal Aneuploidies Associated with Noninvasive Prenatal Testing

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