Pre-implantation genetic testing
Seek pre-implantation genetic testing (PGT-M) which is a type of IVF.
If you decide to pursue the idea of having a family, there are a number of different ways this could happen.
If you have Huntington’s or know you are at risk of it and would like to have children now or in future, you may wonder what your options are. In particular, because Huntington’s is a genetic disease, you are likely to be concerned about the possibility of passing on the faulty gene to your children.
Prenatal diagnosis
After conceiving naturally, you can undergo a test to see if the embryo is affected.
Egg, sperm or embryo donations
A way to still experience pregnancy and childbirth and the child being half genetically related to you as a couple.
Conceiving naturally
You can conceive naturally and accept the risk of a child inheriting the gene.
Adoption
A more lengthy process but very rewarding for families.
Biological options
If you wish to try for your own biological child the following options would be:
- Try to conceive naturally and, if successful, undergo a test called prenatal diagnosis (PND), to find out if the developing embryo is affected. In most cases, this test is only carried out if you intend to terminate the pregnancy if the embryo is found to have the faulty Huntington’s gene. (Although if you change your mind, this cannot be enforced.)
- Try to conceive naturally, and accept the risk of a child inheriting the genetic condition.
- Seek pre-implantation genetic testing (PGT-M) which is a type of IVF.
Pre-implantation genetic testing (PGT-M)
PGT-M (formally known as pre-implantation genetic diagnosis - PGD) is a kind of IVF; a procedure where a woman usually takes drugs to enhance egg production, and then the eggs are removed from her ovaries and fertilised with sperm to create embryos in a laboratory. These are then returned to the woman’s body in the hope of a pregnancy. As Huntington's is a genetic condition caused by one gene it is known as 'monogenic' or 'M' in PGT-M
In the case of PGT-M, after the fertilised embryos have developed for a few days, one or two cells are removed from each one. The genetic material (DNA and chromosomes) from the cells is then tested for a particular disorder, in this case, Huntington’s disease. Up to two unaffected embryos are then transferred into the woman’s uterus. If the pregnancy is successful, the baby should not be affected by the disorder it was tested for.
- PGT-M is the only way for parents to have an unaffected child to whom they are both biological parents, without risking the need for the termination of pregnancy. It is not an easy option.
- Like all IVF, it is a physically and emotionally demanding process, especially for the woman, and it may not result in a pregnancy. It requires a highly skilled technical team and laboratory set up which means only a few places deliver this service.
- The NHS Commissioning Board will pay for three cycles of pre-implantation genetic testing (PGT-M) for couples who have a proven genetic disorder and who wish to avoid the birth of an affected child, in accordance with the criteria outlined in Clinical Commissioning Policy: Pre-implantation Genetic Diagnosis, April 2013.
First steps towards PGT-M
- You normally need to be referred to a clinic that carries out PGT-M by your clinical geneticist or genetic counsellor, where you will have an initial clinical consultation.
- You may wish to check if NHS funding applies in your case. You can also fund the test privately.
- You will be asked to give consent for treatment including aspects such as storage and use of embryos.
- Before treatment can start, you will need to agree to some laboratory testing and preparatory investigations (including health history, ultrasound scan, blood tests, semen analysis etc).
- Preparation time will vary, but on average it will take 5-12 months after the initial consultation before a couple will start treatment. Once in a treatment cycle, the process takes about 9-12 weeks.
PGT-M support group
We have a private Facebook support group for people who are thinking about, going through or have been through PGT-M. It is a peer support group that is monitored by our Specialist Advisers who will also signpost to other forms of advice and support such as relevant videos, blogs or events. You can request to join the group on the link below.
Prenatal diagnosis (PND)
Prenatal diagnosis is where the person conceives naturally, and, if successful, undergoes a test called prenatal diagnosis (PND), to find out if the developing embryo is affected. This is sometimes known as chorionic villus sampling (CVS). In most cases, this test is only carried out if you intend to terminate the pregnancy if the embryo is found to have the faulty Huntington’s gene (although if you change your mind, this cannot be enforced).
If you go through this option there is lots of support available on your journey. We know that some of our community have been supported by the Antinatal Results and Choices - ARC charity on their embryo testing journey.
Use of donated eggs, sperm or embryos
Another way you could conceive a child is through donated eggs, sperm or embryo. This means the child is not genetically related either to you or to your partner, or - in the case of a donated embryo - to either of you. It does however give you or your partner the chance to experience pregnancy and childbirth, and to raise a child from the very beginning of life.
Depending on the treatment you need, you may well be looking at assisted conception via IVF, so again, this is not an easy option but it is a way of avoiding the risk of Huntington’s disease.
As with other kinds of assisted conception, it can be demanding, and funding for cycles to attempt it might be an issue.
For more information about clinics, PGD and other assisted conception techniques, visit the Human Fertilisation and Embryology Authority website. You can also seek information from the Genetic Alliance UK.
Adoption
Thousands of people in the UK and across the world adopt children of all ages and this is also an option that could be open to you. Local authorities and other organisations, including some charities, match people seeking to adopt with children needing a family. The process is not easy and can take a long time, but it might work for you.
Your health and ability to look after a child will, however, be a factor under consideration, so you would have to explore your own situation and what you are capable of taking on, before becoming an adoptive parent.
More information about adoption is available from several organisations including Adoption UK and your local authority, among others.
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