PGT-M Preimplantation Genetic Testing for Monogenic disorders

PGT-M
Benefits
Indications

What is PGT-M test?

PGT-M (formerly PGD) is a test that can be applied to embryo biopsies to determine if embryos are affected or unaffected with a specific single gene disease. The test is custom designed for each patient and their specific genetic mutation(s) during the pre- PGT-M phase.

By analyzing DNA from each embryo, unaffected embryos can be identified and preferentially selected to be transferred into the woman´s uterus during future FETs

What is the procedure?

Why use PGT-M test?

Higher chance of a healthy baby: It maximizes the chances of having a baby free from the disease for couples who have a high genetic risk.
Possibility of PGT-M + PGT-A: We can perform PGT-M and PGT-A for screening of aneuploidies in the same biopsy.
We can perform PGT-M for most monogenic disorders.

Who should consider using PGT-M test?

PGT-M is indicated for patients with a diagnosis of an autosomal dominant or X-linked single gene disease and for couples where both gamete sources are carriers of the same autosomal recessive disease.
Igenomix has performed PGT-M for hundreds of unique genetic diseases, but some of the most frequently performed conditions include cystic fibrosis, fragile X syndrome, muscular dystrophy, and Huntington’s disease.
If the genetic cause for any condition has been identified in the patient or a patient’s family member, Igenomix will evaluate the report and family history.
In most cases, Igenomix can accept the case and offer PGT-M to the patient, assuming a molecular diagnosis has been made.

Download full disease list

Test limitations

Limitations of PGT-M can arise from the IVF treatment itself. For example, poor ovarian stimulation can reduce the chance that an unaffected embryo to be identified since PGT-M success is linked to the number of high-quality embryos produced in the cycle.
PGT-M is only available if a genetic mutation(s) causing the specific disease has been identified. PGT-M cannot be offered if the genetic cause is not known.
PGT-M provides no guarantee of a completely healthy baby. Instead, if a couple is at high risk of transmitting a particular disease to their offspring, PGT-M and transfer of an unaffected embryo significantly minimizes this risk. There remains a small risk of misdiagnosis due to technical limitations, such as contamination, recombination and ADO (allele drop out), and therefore we recommend all patients confirm the results of PGT-M with prenatal diagnostic testing such as amniocentesis or CVS. It is important to know that PGT-M will test for the specific mutation(s) requested; additional genes or mutations are not analyzed, even if they are located within the same gene.
In some countries there can be legal limitations. The laws regulating PGT-M vary by country. In some countries, its use is prohibited or tightly regulated and might require, for some indications, a case-by-case authorization by a National Committee.

Documentation

Specialists

Clinical Sheets

Download

Brochure

Download

PGT-M FAQ Sheet

Download

Scientific evidence

Relevant studies:

G. Kakourou et al., The clinical utility of PGD with HLA matching a collaborative multi-centre ESHRE study. Human Reproduction, Vol.33, No.3 pp. 520–530. Fertility and Sterility

M De Rycke, et al., ESHRE PGD Consortium data collection XIV–XV: cycles from January 2011 to December 2012 with pregnancy follow-up to October 2013, Human Reproduction, Volume 32, Issue 10, October 2017, Pages 1974–1994.

If you´re a little lost with this technical information...

Can we help you?

I’m not a health specialist

Igenomix and fertility

We work to make a world in which infertility is no longer an impossible barrier. Together with clinics and fertility doctors worldwide we investigate human reproduction to change the lives of couples who are trying to conceive.

Other services

Family Balancing

Help your patients select the desired sex of their embryos More information

PGT-A

Chromosomally normal embryos selection More information

PGT-A + ERA Synchrony

The best embryo at the right time More information

Igenomix is in the media

Igenomix is not affiliated with any news outlet or publication identified above. News coverage does not constitute an endorsement of Igenomix or its products.

PGT-M Preimplantation Genetic Testing for Monogenic disorders

Significantly reduces the risk for a single gene disorder for patients at risk to have affected offspring

Igenomix has performed more than 15,000 PGT-M cycles

PGT-M + PGT-A can be run simultaneously

Our PGT-M testing is 98-99% accurate

+ 300 diseases for which the PGT-M test is already developed

Are you interested?

What is PGT-M test?

What is the procedure?

Why use PGT-M test?

Who should consider using PGT-M test?

Test limitations

Clinical Sheets

Brochure

PGT-M FAQ Sheet

Relevant studies:

Can we help you?

Igenomix and fertility

Family Balancing

PGT-A

PGT-A + ERA Synchrony