Preimplantation Genetic Testing for Aneuploidy (PGT-A).
The most common cause for IVF failure is a failure of implantation of the embryo into the lining of the uterus. There are many potential reasons for this, however, chromosomal abnormality within the early developing embryo is considered to be responsible for the majority of failed IVF cycles.
If an embryo contains an incorrect number of chromosomes, other than the normal 46, it is genetically abnormal, a condition known as aneuploidy.
Genetic testing has advanced to the extent whereby we are able to check every chromosome within an embryo and identify any abnormalities before the embryo is implanted back into the body. This technology is known as preimplantation genetic testing for aneuploidy (PGT-A).
PGT-A allows us to check the number chromosomes within each embryo, for example, an embryo may have an additional copy of a chromosome or may be lacking a chromosome. If an embryo is lacking a chromosome it is unlikely that the embryo will implant, there are however a few exceptions, such as Turners syndrome, in which the embryo only contains one sex chromosome (X0)
However, if an embryo contains an additional copy of a chromosome it may still implant and develop into a pregnancy. The most likely outcome for this pregnancy is that it will end in miscarriage before 12 weeks. However, in some cases the pregnancy may continue further or even to full term, for example, Down’s syndrome, a condition whereby the embryo has three copies of chromosome 21 rather than two.
PGT-A will identify which embryos are contain a normal set of chromosomes (46) and are euploid and which embryos contain an abnormal set of chromosomes (+/- 46) and are aneuploid. Published data has demonstrated that if a euploid embryo (chromosomally normal) is returned back to the womb the likelihood of a successful outcome is greater than the transfer of an unscreened embryo through IVF.
However, PGT-A is not necessary for everyone; at Aria our fertility consultants will discuss with you whether this fertility treatment is an option to help you start or continue to grow your family.
Preimplantation Genetic Testing for monogenic diseases (PGT-M).
For some families having a baby can be complicated not by infertility but because one of the partners, or both partners carry a specific inherited genetic condition which could be potentially passed onto any child.
Will I need PGT-M?
PGT-M is a specialist treatment and will only be required if you, your partner or the both of you are a known carrier of a genetic condition. The below list contains a few examples of the types of patients we are able to help treat using the PGT-M technology:
- Families who have had a child or pregnancy which has been affected with a single gene disorder.
- Both partners are known to be carriers of the same autosomal recessive condition, such as Cystic Fibrosis. A Carrier Genetic Test (CGT) is a genetic test you may wish to have before starting a family. This test screens both partners for a range of recessive genetic diseases and helps to determine if there is a risk of having a child with a genetic disease.
- A dominant inherited genetic condition may have been diagnosed in your family. If this is the case there is a 50% chance of passing the mutated gene onto each child e.g. Huntington disease.
- Either partner is a known carrier of an X-linked condition, such as Duchenne Muscular Dystrophy.
- Families who have a history of a hereditary cancer syndrome, such as breast cancer (BRCA1 & 2), caused by single gene mutation.
These genetic conditions are known as single-gene disorders, for example, Cystic Fibrosis, alpha or beta Thalassemia or sickle cell anaemia are some of the most common. There are many other single-gene disorders which can have devastating consequences if these are passed onto any child. There are over 600 different types of dominant and recessive genetic diseases which we are able to test for. A list of all the single-gene disorders were are currently licensed by the HFEA to be able to test for can be found here.
Using PGT-M technology we are able to screen every embryo for the presence or absence of a single-gene disorder. Subsequently, we only replace embryos which are unaffected with the particular genetic disease back into the body so a healthy pregnancy can be conceived.
Preimplantation Genetic Testing for structural rearrangements (PGT-SR).
Structural chromosomal rearrangements are mutations of the chromosomes involving a change in the natural chromosome size or arrangement. If either partner has been diagnosed with a structural rearrangement of their chromosomes there is a significantly higher chance of a pregnancy ending in miscarriage or having a child which inherits a genetic disorder.
Many people who carry a balanced form of a structural rearrangement, are often healthy and unaware that they are a carrier of this genetic condition, until they start to try for a family.
The PGT-SR process requires that we screen all of the embryos created through the IVF process to ensure that they have inherited the correct amount of genetic material. We can then replace any embryos which have been unaffected by the structural abnormality and are most likely to form a successful pregnancy