Noninvasive fetal genome sequencing: a primer |
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| Authors: | Matthew W Snyder LaVone E Simmons Jacob O Kitzman Donna A Santillan Mark K Santillan Hilary S Gammill Jay Shendure |
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| Institution: | 1. Department of Genome Sciences, University of Washington, Seattle, WA, USA;2. Department of Obstetrics and Gynecology, University of Washington, Seattle, WA, USA;3. Department of Obstetrics and Gynecology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA |
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| 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. © 2013 John Wiley & Sons, Ltd. |
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