PGT-M Preimplantation Genetic Testing for Monogenic disorders

What is PGT-M?
Indications
Limitations

What is PGT-M?

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?

Who is PGT-M for?

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

For clinics in the UK, a condition must be approved by the Human Fertilisation & Embryology Authority (HFEA) to perform PGT-M. Igenomix are able to support clinics in their applications for additions to this list. Note that this restriction does not apply to non-UK clinics working with Igenomix UK.

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

Authors: Kakourou G, Kahraman S, Ekmekci G C, Tac H A, Kourlaba G, Kourkouni E, Cervero Sanz A, Martin J, Malmgren H, Giménez C, Gold V, Carvalho F, Billi C, Chow J F C, Vendrell X, Kokkali G, Liss J, Steffann J, Traeger-Synodinos J

Publication: Hum Reprod. 2018 Mar 1;33(3):520-530. doi: 10.1093/humrep/dex384.

PMID: 29432583

Title: ESHRE PGD Consortium data collection XIV-XV: cycles from January 2011 to December 2012 with pregnancy follow-up to October 2013

Authors: De Rycke M, Goossens V, Kokkali G, Meijer-Hoogeveen M, Coonen E, Moutou C

Publication: Hum Reprod. 2017 Oct 1;32(10):1974-1994. doi: 10.1093/humrep/dex265.

PMID: 29117384

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