title: Noninvasive fetal genome sequencing: a primer.
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.
authors.affiliation: Department of Genome Sciences, University of Washington, Seattle, WA, USA.
authors.forename: Matthew W
authors.initials: MW
authors.lastname: Snyder
authors.forename: LaVone E
authors.initials: LE
authors.lastname: Simmons
authors.forename: Jacob O
authors.initials: JO
authors.lastname: Kitzman
authors.forename: Donna A
authors.initials: DA
authors.lastname: Santillan
authors.forename: Mark K
authors.initials: MK
authors.lastname: Santillan
authors.forename: Hilary S
authors.initials: HS
authors.lastname: Gammill
authors.forename: Jay
authors.initials: J
authors.lastname: Shendure
mesh_terms: D004247:DNA / Q000235:genetics; D005260:Female; D005333:Fetus / Q000378:metabolism; D005820:Genetic Testing / Q000379:methods*; D015894:Genome, Human; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D011364:Professional Practice; D017422:Sequence Analysis, DNA / Q000379:methods*; D057170:Translational Research, Biomedical
chemical_list: D004247:DNA
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