Journal
PRENATAL DIAGNOSIS
Volume 33, Issue 6, Pages 547-554Publisher
WILEY
DOI: 10.1002/pd.4097
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Funding
- NIH/National Human Genome Research Institute
- NSF
- Washington Research Foundation
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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. (c) 2013 John Wiley & Sons, Ltd.
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