Noninvasive fetal genome sequencing: a primer


  • Funding sources: Our work was supported in part by grants from the NIH/National Human Genome Research Institute (J. S.), a gift from the Washington Research Foundation (J.S.), and an NSF Graduate Research Fellowship (J. O. K.).
  • Conflicts of interest: J. S. is a member of the scientific advisory board or serves as a consultant for Ariosa Diagnostics, Stratos Genomics, Good Start Genetics, and Adaptive Biotechnologies. A provisional patent application has been deposited for aspects of these methods (M. W. S., J. O. K., and J. S.; “Non-invasive whole genome sequencing of a human fetus”; 61/651,356).


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.