A test designed to reduce the risk of having a baby with a genetic abnormality

What’s PGT-M ?

            PGT-M is a pre-embryonic genetic diagnostic test for single-gene diseases, for couples carrying known genetic abnormalities. PGT-M can be taken before pregnancy to significantly reduce the risk of having a baby with a genetic abnormality. PGT-M conducted on embryos was created through in vitro fertilization (IVF), by analyzing the DNA from each embryo. Embryos without inherited disease can be identified and preferred to transfer into the mother’s womb. PGT-M was formerly known as PGD, a genetic diagnosis before embryo transfer.

Mechanism of PGT-M

            PGT-M tests are designed for each family, PGT-M can be done for almost all single-gene disorders, as long as the family has identified the specific mutation and its members. The family is ready for testing.

PGT-M technology

            The PGT-M test involves a close examination of both the mutation and the chromosomal region surrounding the mutation (shown in the figure below, shown in yellow). Each PGT-M test is uniquely and individually designed for each family, so blood samples from family members will be required for analysis. Subsequent genetic analysis was used to identify the “haplotype” genetic clusters and diagnose each embryo with or without the mutation.

Who should implement PGT-M

            PGT-M is suitable for people with a single genetic disorder. You may consider implementing PGT-M if:

– You and your husband are people with the same genetic recessive trait (eg Cystic fibrosis, Thalassemia …)

– You are a carrier of a mutation associated with X chromosomes (e.g. Duchenne muscular dystrophy)

– Do you or your husband have a genetic predisposition (for example, Huntington’s disease)

– Do you or your husband have a mutation related to inherited cancer (e.g. BRCA1 & 2)

– Do you have a child or pregnant child with a single genetic disorder

– You want to perform in conjunction with HLA compliant tests.

Benefits of PGT-M   

Genetic diagnosis before transfer of PGT-M embryos is designed to reduce the risk of having babies born with certain genetic diseases. At GENOME, we provide PGT-M and other pre-embryo assays to ensure patients have the most healthy embryos during in vitro fertilization (IVF). The PGT-M test has many benefits for patients with sex-linked genetic disorders, single-gene and chromosomal disorders. Doing this test provides an insight into the health of each embryo so that patients can increase their chances of conceiving and having healthy babies.








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