What it is

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 pregnancy to greatly reduce the risk of having an affected child. 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.


WHO IT’S 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

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.

Preimplantation Genetic Testing for Monogenic/Single Gene Defects can be performed for over 99% of inherited single gene disorders and identifies affected and unaffected embryos with 95% accuracy

*Internal CooperGenomics data


The PGT-M Process

1. Case Review

Prospective parents speak with a genetic counselor and discuss if additional genetic testing of the couple or other family members is required.

2. PGT-M Test Preparation

The PGT-M lab designs a test unique to each family.

3. IVF

In vitro fertilization is performed and the resulting embryos are incubated.

4. Embryo Biopsy

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

5. PGT-M

Samples are sent to the PGT-M laboratory, testing is performed, and results are released to the IVF center.

6. Embryo Transfer

An unaffected embryo is transferred. Remaining embryos can be frozen for future use.


PGT-M Technology

If both parents are a carrier of a genetic condition, PGT-M testing helps identify embryos that are affected, a carrier, or unaffected by that condition.

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.