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Preimplantation Genetic Testing for Monogenic and Single Gene Defects (PGT-M or PGD)

What is PGT-M?

PGT-M is useful for patients who are at an increased risk for passing down a specific genetic condition. PGT-M technology allows for the identification of affected embryos so that only the unaffected embryos may be transferred into the uterus.

Who is it for?

PGT-M is useful for individuals with a known genetic condition or carriers of a known genetic aberration, such as

  • Individuals who are affected by an autosomal dominant condition (i.e. Huntington's, Myotonic Dystrophy, )
  • Couples or individuals who are carriers for a recessive condition (i.e. Sickle cell anemia, Cystic fibrosis)
  • Individuals who are carriers or are affected with X-linked conditions (i.e. Duchenne muscular dystrophy, Haemophilia A)
  • Individuals who are carriers of mutations associated with hereditary cancer syndromes (i.e. BRCA1/2, Lynch syndrome)
  • Individuals who are carriers of balanced chromosomal rearrangements (Robertsonian/reciprocal translocations or chromosomal inversions)
  • HLA matching

How Does it Work?

Patients Review

Family Case is Reviewed

Your doctor will review your specific case and identify if PGT-M is right for you. CReATe also has counselors who can help you understand the emotional implications of the test so you can make an informed decision.

PGTM Process Test

PGT-M Test Prepared

An individual, unique PGT-M test will be created for each family. Our geneticist will ask for DNA from you and your family members to construct the specific PGT-M test for your genetic condition. Test construction takes between 3-5 weeks and is usually done while you prepare for the IVF cycle

IVF Cycle

IVF

PGT-M is done in conjunction with your IVF cycle. On day 5 of embryo culture, the embryo has grown to about 100 cells. Half of these cell will create the baby and half will create the placenta.

Biopsy

Biopsy

To perform PGT-M, a few cells from each embryo are biopsied from the part of the embryo that will form the placenta. The cells that will form the baby remain untouched and unharmed. If you are also doing PGT-A testing, the same cells can provide information for both tests and no additional biopsy is needed.

Embryo Identifier

PGT-M

The removed cells are tested in-house by our genetic experts to identify embryos that are affected by the genetic condition.

Embryo Testing

Embryo Transfer

Embryos that are unaffected by the genetic condition will be selected for transfer into the uterus. The remaining unaffected embryos can be frozen for potential use in a future cycle.

Can PGT-M and PGT-A be done at the same time?

Yes, we can perform both tests at the same time. The same genetic material can be used to screen both the chromosomal health of the embryo (PGT-A) and to determine specific genetic conditions (PGT-M).

How Long Does it Take?

Our Reproductive Genetic Department can perform PGT-M for any (and multiple) single gene disorder, if the mutation has been determined and/or relevant family members available for testing. We provide the fastest results for all genetic testing with PGT-M results in as little as 3-5 weeks post biopsy.

What do the Results Look Like?

The results form PGT-M will identify each embryo as “affected” or “unaffected” by the single gene disorder(s) tested. The embryos that are unaffected by the disorder will be suitable for transfer.

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