Scientists Sequence Prenatal Genome From Pregnant Mother’s Blood

Pre-natal genetic testing goes completely non-invasive with the new research by a Stanford research team led by Stephen R. Quake. Here is the link (and abstract) to the Nature paper titled Non-invasive prenatal measurement of the fetal genome, H. Christina Fan, Wei Gu, Jianbin Wang, Yair J. Blumenfeld, Yasser Y. El-Sayed & Stephen R. Quake, Nature (2012) doi:10.1038/nature11251

The vast majority of prenatal genetic testing requires invasive sampling. However, this poses a risk to the fetus, so one
must make a decision that weighs the desire for genetic information against the risk of an adverse outcome due to hazards
of the testing process. These issues are not required to be coupled, and it would be desirable to discover genetic
information about the fetus without incurring a health risk. Here we demonstrate that it is possible to non-invasively
sequence the entire prenatal genome. Our results show that molecular counting of parental haplotypes in maternal
plasma by shotgun sequencing of maternal plasma DNA allows the inherited fetal genome to be deciphered
non-invasively. We also applied the counting principle directly to each allele in the fetal exome by performing exome
capture on maternal plasma DNA before shotgun sequencing. This approach enables non-invasive exome screening of
clinically relevant and deleterious alleles that were paternally inherited or had arisen as de novo germline mutations, and
complements the haplotype counting approach to provide a comprehensive view of the fetal genome. Non-invasive
determination of the fetal genome may ultimately facilitate the diagnosis of all inherited and de novo genetic disease.