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
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
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.
Scientific evidence
Relevant related studies:
Title: The clinical utility of PGD with HLA matching: a collaborative multi-centre ESHRE study
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
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