New test can detect both genetic and chromosomal abnormalities in embryos
Amsterdam, The Netherlands: One-step screening for both genetic and chromosomal abnormalities has come a stage closer as scientists announced that an embryo test they have been developing has successfully screened cells taken from spare embryos that were known to have cystic fibrosis.
They told a news briefing at the 25th annual meeting of the European Society of Human Reproduction and Embryology in Amsterdam today (Tuesday) that, as a result, they would be able to offer clinical trials to couples seeking fertility treatment later this year.
The researchers based in the USA and the UK have been able to prove that the technique, known as genome-wide karyomapping, was capable of not only detecting diseases caused by a specific gene mutation, in this case cystic fibrosis, but that it was also capable of detecting aneuploidy (an abnormal number of any of the 23 pairs of chromosome) at the same time. This is the first time they have been able to demonstrate that the test can work in cells taken from embryos that have already been diagnosed with the cystic fibrosis gene mutation using conventional preimplantation genetic diagnosis (PGD).