Genetic Solutions > PGT-M

PGT-M Preimplantation Genetic Testing for Monogenic disorders

Prevent the transmission of single gene disorders to future children and achieve a healthy pregnancy

Overview

PGT-M
Benefits
Indications

What is PGT-M test?

PGT-M (formerly PGD) is an early genetic diagnosis test for embryos produced during IVF, prior to their transfer to the uterus.
By analysing DNA from each embryo, normal embryos can be preferentially selected to be transferred and begin the journey towards conceiving a healthy child.

What is the procedure?

Why should use Preimplantation Genetic Testing for Monogenic disorders (PGT-M)

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.

Download full disease list

Who should use PGT-M test?

Patients who are undergoing an assisted reproduction treatment and have a personal or familial high-risk for single gene conditions. This risk may be identified due to:
A family history of these conditions
A positive carrier screening result
A previous affected child

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 likelihood of identifying a healthy embryo, since PGT-M success is linked to the number of high-quality eggs and embryos produced in the cycle.
Not all people who wish to have PGT-M are able to do so. It is essential that the disorder to be diagnosed has a comprehensive and accurate genetic characterization to at least identify the gene responsible for the condition. Regulatory restrictions (e.g. from the HFEA in the UK) may additionally limit which conditions can be tested.
PGT-M provides no guarantee of a completely healthy baby. If a couple is at high risk of transmitting a particular disease to their offspring, PGT-M significantly minimises this risk. However, there remains a small risk of misdiagnosis due to technical limitations, such as contamination, recombination and ADO. Couples should always be offered the possibility of prenatal diagnosis to confirm results. It is important to know that PGT-M will test for the specific mutation requested, but no other genes or mutations are analyzed, even if they are located within the same gene.

Documentation

PGT-M Specialists' documents

Relevant related 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 specialists worldwide, we investigate human reproduction to change the lives of those who are trying to conceive.