In May, a baby was born after his genome was analyzed and deemed healthy during in vitro fertilization using low-cost DNA sequencing.
Private and academic researchers from the U.K. and U.S. worked with a couple in Philadelphia who had failed to conceive using another fertility treatment, according to The Guardian. As participants in a study, the couple then tried in vitro fertilization. After uniting their sperm and egg in a dish, the couple’s doctors let the embryos grow for five days. They then plucked single cells from the resulting embryos and sent them off to the University of Oxford, where researchers used the Ion Torrent platform to screen each genome. This analysis allowed the researchers to examine each embryo for abnormal numbers of chromosomes, individual gene mutations, and mutations in the mitochondrial genome, according to an abstract from the 2013 meeting of the European Society of Human Reproduction and Embryology, where the results were announced on Monday.
Prenatal testing is a burgeoning industry for DNA sequencing technologies (see “DNA Sequencing Leader Buys into Prenatal Testing” and “Prenatal DNA Sequencing”). Couples have also been using pre-implantation diagnosis to screen their embryos for years (see “Shaping Babies”), but so far that analysis has used large-scale chromosome analysis or limited gene-specific analysis.
The tests can be too expensive for some couples, said Oxford’s Dagan Wells, lead author on the IVF study, in a release from the ESHRE.
Wells thinks that fast and cheap DNA sequencing could make such tests affordable for more families:
Many of the embryos produced during infertility treatments have no chance of becoming a baby because they carry lethal genetic abnormalities. Next generation sequencing improves our ability to detect these abnormalities and helps us identify the embryos with the best chances of producing a viable pregnancy. Potentially, this should lead to improved IVF success rates and a lower risk of miscarriage.
According to The Guardian, only three of 13 embryos from the Philadelphia couple had a normal number of chromosomes. One of the three “normal” embryos was implanted, which led to the birth of baby Connor Levy.
An earlier version of this post stated that the baby born in May was the first to have his genome sequenced as an IVF embryo, but that is not clear.