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Prenat Diagn. 2013 Jun;33(6):547-54. doi: 10.1002/pd.4097. Epub 2013 Apr 1.

Noninvasive fetal genome sequencing: a primer.

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  • 1Department of Genome Sciences, University of Washington, Seattle, WA, USA.

Abstract

We recently demonstrated whole genome sequencing of a human fetus using only parental DNA samples and plasma from the pregnant mother. This proof-of-concept study demonstrated how samples obtained noninvasively in the first or second trimester can be analyzed to yield a highly accurate and substantially complete genetic profile of the fetus, including both inherited and de novo variation. Here, we revisit our original study from a clinical standpoint, provide an overview of the scientific approach, and describe opportunities and challenges along the path toward clinical adoption of noninvasive fetal whole genome sequencing.

PMID:
23553552
PMCID:
PMC3727971
DOI:
10.1002/pd.4097
[PubMed - indexed for MEDLINE]
Free PMC Article
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