Know How One Genetic Test Could Prevent Duchenne Muscular Dystrophy (DMD): A Case Study

This video presents a case study on the application of Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) and Preimplantation Genetic Testing for Aneuploidies (PGT-A) to prevent the transmission of Duchenne Muscular Dystrophy (DMD).

The couple, with a known family history of DMD and a confirmed maternal carrier status, underwent IVF with genetic testing to select a healthy embryo for transfer. Using SNP-based haplotyping (karyomapping), embryos were tested for the DMD gene mutation and chromosomal abnormalities. Out of six embryos analysed, three were found to be DMD-negative and euploid. A selected embryo was transferred, and prenatal diagnosis confirmed a healthy fetus free from the mutation.

This case highlights how the combination of PGT-M and PGT-A improves embryo selection, reduces the risk of inherited disorders, and enhances IVF outcomes. It demonstrates the role of genetic testing in personalised reproductive medicine for at-risk couples.

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