If you are affected by or a carrier of a leukodystrophy, there are a few choices when it comes to your reproductive options. Reproductive decisions are a personal choice and each person will have their own preferences, on this page we discuss the options available.

We know that it can be difficult to decide which option is best for you and would always advise speaking to your specialist, geneticist, or counsellor to explore your feelings and options. Some people might decide the best option for them is to not have a child, to have a child without medical intervention or to have medical intervention before or during pregnancy.

Alex TLC have families that have experience with all of these options and are willing to discuss their personal experience. Contact us to find out more – info@alextlc.org.

Testing during pregnancy

Two main tests during pregnancy are available – chorionic villus sampling and amniocentesis. Both require a sample of the baby’s DNA to be tested. Both procedures carry a small risk of miscarriage of 1%.

Chorionic villus sampling (CVS) is done at around 12 weeks of pregnancy. Amniocentesis is done at 16 weeks. You don’t need both tests.

The results are available after about a week, and you can then take the decision on whether to carry on with the pregnancy.

If the pregnancy shows they have the mutated gene, you would be offered the choice of termination or continuing with the pregnancy, if you continue with the pregnancy then you would be advised to contact a specialist for guidance. This is a very personal decision to make. Alex TLC can put you in touch with others who have been in this difficult position.

Testing before pregnancy

What is PGT?

PGT (Pre-implantation genetic testing) is available to couples that are at risk of having a child with a specific genetic or chromosome disorder. It prevents the birth of an affected child by testing an embryo before it is implanted in the uterus (womb).

Briefly, it involves the use of Assisted Reproductive Technology (ART), which in other circumstances is offered to couples with fertility problems. The aim is to obtain and fertilise a number of eggs. Once fertilised, the embryos develop for three days and then one cell is removed from each embryo. The genetic material (DNA or chromosomes) within each cell is then tested for the altered gene or chromosome abnormality. Up to two unaffected embryos are then transferred to the uterus with the hope that they will implant and form a pregnancy. If successful, a pregnancy should be unaffected. PGT is a lengthy and complex process. More information about PGT treatment can be found here.

Is it available for my condition?

The official list of conditions approved for PGT within the UK can be found at the Human Fertilisation and Embryology Authority.

If you do not see your condition on the list, you can ask your genetic counsellor for advice on how to apply to get your condition approved.

For further information on how to be referred please visit Guys and St Thomas hospital. There are also satellite clinics at the following hospitals.

Satellite clinics

Leeds
Yorkshire regional genetics service, Chapel Allerton Hospital, Chapeltown Road, Leeds LS7 4SA

Phone: 011 3392 4463

Sheffield
Sheffield clinical genetics service, Sheffield Children’s Hospital, Western Bank, Sheffield S10 2TH

Phone: 011 4271 7029

Exeter
Clinical Genetics, Royal Devon and Exeter Hospital (Heavitree), Gladstone Road, Exeter EX1 2ED

Phone: 013 9240 5723

Scotland

Edinburgh Fertility Centre, Royal Infirmary of Edinburgh

Glasgow Royal Fertility Clinic, Glasgow Royal Infirmary

Wales and Ireland

Patients would be referred to Guys and St Thomas

 

For parents facing difficult decisions around pregnancy, the organisation Antenatal Results and Choices (ARC) provides excellent information and support resources.

Preimplantation Genetic Testing – Barriers to Access

This film documents the PET event ‘Preimplantation Genetic Testing: Barriers to Access‘, supported by the D’Oyly Carte Charitable Trust. This film documents a PET event about access to and funding for preimplantation genetic testing (PGT), specifically in relation to monogenic conditions (PGT-M) and chromosomal structural rearrangements (PGT-SR).

To find out more: PET – Preimplantation Genetic Testing video