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.).
Noninvasive fetal genome sequencing: a primer
Article first published online: 1 APR 2013
© 2013 John Wiley & Sons, Ltd.
Special Issue: Noninvasive Prenatal Testing Using Maternal Plasma DNA: Part I
Volume 33, Issue 6, pages 547–554, June 2013
How to Cite
Snyder, M. W., Simmons, L. E., Kitzman, J. O., Santillan, D. A., Santillan, M. K., Gammill, H. S. and Shendure, J. (2013), Noninvasive fetal genome sequencing: a primer. Prenat. Diagn., 33: 547–554. doi: 10.1002/pd.4097
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).
- Issue published online: 17 MAY 2013
- Article first published online: 1 APR 2013
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.