PGT-M

PGT-M
pgt-m-HERO - ARTICLE

What is PGT-M?

For people who know they are at increased risk of passing on a specific genetic condition, PGT-M, or preimplantation genetic testing for monogenic/single gene defects, can be performed prior to embryo transfer to greatly reduce the risk of having a child affected with that condition.

PGT-M for single gene disorders involves testing embryos created through in vitro fertilization (IVF) and then transferring unaffected embryos. PGT-M was formerly known as PGD, preimplantation genetic diagnosis.

How it works

PGT-M tests are created uniquely for each family. PGT-M can be performed for nearly any single gene disorder as long as the specific familial mutation has been identified and appropriate family members are available for test preparation.

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PGT-M can be performed for >99% of inherited single gene disorders

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PGT-M identifies affected and unaffected embryos with >99% accuracy

Who is PGT-M for?

PGT-M is appropriate for people who are at high-risk of passing on a specific single gene disorder. You may consider PGT-M if:

  • You and your partner are carriers of the same autosomal recessive condition (e.g. Cystic fibrosis)
  • You are a carrier of an X-linked condition (e.g. Duchenne Muscular Dystrophy)
  • You or your partner have an autosomal dominant condition (e.g. Huntington disease)
  • You or your partner have a mutation associated with a hereditary cancer syndrome (e.g. BRCA1 & 2)
  • You had a child or pregnancy with a single gene disorder
  • You want to perform HLA matching

The PGT-M Process

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Case review

Ordering provider submits a TRF along with genetic testing reports for case review and approval.

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Genetic consultation

Registered patients speak with a genetic counselor
(PGT-M: discuss if additional genetic testing of the couple or other family members is required).

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PGT-M process

PGT lab collects DNA samples from the couple and appropriate family members and designs a test unique to each family.

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IVF

In vitro fertilization is performed and the resulting embryos are incubated

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Embryo biopsy

An embryologist carefully removes a small cell sample from each embryo.

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Vitrification

Embryos are frozen while awaiting PGT results.

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PGT-M

Biopsied samples are sent to the PGT laboratory, testing is performed, and results are released to the IVF center.

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Embryo transfer

If available, a chromosomally normal embryo is selected for transfer. Additional euploid embryos can remain frozen for future use.


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PGT-M Technology

PGT-M testing involves a close examination of both the mutation an individual carries and the area of the chromosome surrounding it, shown above as the colored segment of each chromosome.

Each PGT-M test design is unique and specific to the family, so DNA samples from both partners, and often additional family members, will be requested in order to design a test.

Then, linkage analysis is used to determine the “genetic fingerprint” of the mutation and diagnose each tested embryo as affected or unaffected.

PGT-M/SR Experience

CooperSurgical is the pioneer and worldwide leader of PGT-M/SR. Our experts have over a 100 years of combined PGT-M experience and global expertise in providing accurate results – highlighted by our ability to accept the most complex of cases.

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