Noninvasive fetal genome sequencing: a primer.

Publication Type:

Journal Article


Prenatal diagnosis, Volume 33, Issue 6, p.547-54 (2013)


2013, Clinical Research Division, July 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.