In one embryo, the researchers did not find any de novo mutations in protein-coding regions of the genome. However, in another other embryo from the same couple, the researchers found two coding mutations in the ZNF266 and SLC26A10 genes that may be potentially damaging. The authors point out, however, that it is currently unknown if there would be any health consequences for a child born with these mutations.
"The biggest hurdle now is one of how to analyze the medical impact of detected mutations and make decisions based on those results," said Peters and Drmanac.
In addition to PGD, this new methodology could be useful for other applications in which cells are limited, such as sequencing circulating tumor cells (CTCs) or circulating fetal cells (CFCs), each of which are present in rare subpopulations in the blood.
