Researchers develop all-in-one test for the avoidance of de novo genetic disease in embryos

De novo variants (DNVs), genetic mutations that were not previously identifiable in the family history of one of two prospective parents, may cause disease in any children they have. Where a disease-causing DNV is present in one parent, the risk of passing it to a child can be as high as 50% and being able to identify healthy embryos for transfer to avoid an affected pregnancy is clearly a high priority. To achieve this goal, identification of the group of genes inherited from one parent (the haplotype) that is linked with the mutation is necessary to transfer only healthy embryos. Until now this has been a difficult process and can often involve multiple embryo biopsies, which in themselves carry a risk. But a group of Belgian researchers have developed a new, one-stop method using DNA from the parents of the affected prospective parent (the embryo's/child's grandparents). They will present their findings to the annual conference of the European Society of Human Genetics today.

source https://medicalxpress.com/news/2021-08-all-in-one-de-novo-genetic-disease.html