Preimplantation genetic testing for Monogenic Disease (PGT-M) assesses embryos to help prevent the transmission of an inherited genetic disorder to children.
A couple may be interested in PGT-M if they are concerned about passing on a known single-gene condition to their children due to one of the following reasons:
1. If both parents carry a mutation for example for cystic fibrosis, there is a 1 in 4 chance that their offspring will have the disease.
2. Using knowledge of CF carrier or disease status in the parents, scientists can look at the chromosome segment in which the gene lies to determine from which parental chromosome the gene originated.
3. Scientists can then determine whether the chromosome segment inherited by each embryo contains the normal or mutated copy of the CF gene.
4. This helps determine whether the embryo inherited a single mutation from either parent and will be an unaffected carrier, whether the embryo inherited a mutation from each parent and will be affected with CF, or whether the embryo did not inherit any mutations. If the embryo is likely unaffected, it is considered to be a good candidate for transfer
By identifying IVF embryos that most likely do not carry a particular genetic disorder, PGT-M can:
Faster results due to an ultra-rapid workflow compared to single tandem repeat (STR) technology1
1. Natesan S, Bladon AJ, Coskun S, et al. Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro. Genet Med. 2014;(January):1–8.
Learn more about how PGT-M can help prevent the inheritance of a genetic disorder to your childrenLearn more