There appeared to be a great demand for more information about the options for having children with the possible exclusion of ADOA. This page describes how ADOA is inherited and what the chances are of having a child with ADOA. It also describes what the current options are in the Netherlands regarding having a child through pre-implantation genetic testing. This information was collected and described by Kim Warink (physician and former board member of the Cure ADOA Foundation). If you have any questions, you can always contact us by sending us an email.
1 Heredity ADOA
Autosomal dominant optic atrophy is a hereditary disease. The mistake in the DNA, our hereditary material, is in the OPA1 gene in ADOA. When you parse the name, the first two words say something about how it is inherited.Autosomal: the faulty gene can be passed on to both a son and a daughter. Also, both a man and a woman can pass it on to his or her children. It is gender independent. Dominant: to get the disease you only need to inherit one faulty gene from one of your parents. The healthy gene inherited from the healthy parent is then overpowered by the faulty gene.
When you have the mutated OPA1 gene, there is a high chance that you will get the disease, namely 95%. The severity of the disease varies from person to person. It doesn't have to get worse with each generation. As a result, it is impossible to predict what your child's vision will be like at birth.
When a couple, one of whom has ADOA, has a desire to have children, the chance of having a child with ADOA is 50%. With each new child this is again 50%.
2 Hereditary disease and desire to have children
2.1 Choices
If there is a hereditary disease, this can play a role in the decision about whether or not to have children and/or whether measures can be taken. With ADOA you know that your child has a 50% chance of inheriting the mutated OPA1 gene and that when this gene is inherited, complaints actually arise in 95% of cases. Choices regarding a possible desire to have children differ per individual and may also depend on the quality of life of the parent with ADOA. If one parent has been able to do everything with his vision all his or her life, compared to someone who is almost blind and has a very limited life, other considerations will probably be taken into account in this decision or will not even be discussed. be thought about. However, the severity of the disease in the child can differ greatly from that of the parent and it is good to be aware of this. Not wanting to have a child with ADOA does not have to mean the end of a child's wish. We will go through a few things with you.
2.2 Prenatal diagnosis
Prenatal diagnosis is done during an existing pregnancy. Genetic testing is done on the unborn child during pregnancy. This is done from eleven weeks of pregnancy. The examination is done with an amniocentesis or chorionic villus sampling. There is a small risk of miscarriage with these tests.
A good result can put your mind at ease, but a bad result leaves you with difficult choices, keep the child or not? You can generally live with ADOA, of course it depends on the severity of the disease how restrictive it is. The choice will ultimately lie with the parents. Terminating a pregnancy is often experienced as a great burden.
2.3 Pre-implantation genetic test
See video.
2.4 Genetic modification of embryos
There is a lot of talk about tinkering with DNA. The well-known CRISPR CAS story is an example of this. They are already very far with this technique, but it is forbidden by law to place an embryo in a uterus when the DNA has been tampered with.
3 Pre-implantation genetic test
3.1 About PGT
With PGT it is not necessary to terminate a pregnancy as with prenatal diagnosis and there is no need to tinker with DNA as with genetic modification. With PGT, healthy embryos are selected outside the uterus and used to become pregnant. This method has been permitted in the Netherlands since 1995 and the first baby was born with this method in 1997. It is only possible in genetic diseases that are determined only by the gene. Multifactorial diseases are not included here, these are diseases where people often talk about having a predisposition to (cardiovascular and vascular diseases). There is a National Indication Committee that determines whether PGT may be applied for a specific disease. There are many ethical dilemmas involved in this procedure that are open to much discussion.
IVF treatment is necessary for PGT. IVF stands for 'in vitro fertilization' and means 'fertilization outside the body'. This method is often used by couples who cannot get pregnant naturally. The woman receives hormone injections to mature more eggs and these are then fertilized with sperm outside the body.
When the fertilization of the eggs with sperm cells has taken place, with PGT, one or a few cells are taken from the embryo. This happens after about three to five days. The embryo's cells are genetically tested. If there is an embryo that does not have the mutation, it can be placed in the uterus. Testing is only done for the genetic disease in question.
The chance of pregnancy after transfer is about 25%. The chance that a child will still be born with the genetic disease is very small, 3-5%. During pregnancy, there is therefore also the option of using prenatal diagnostics to be sure.
3.2 Procedure
PGT goes via PGT Netherlands. Part of the procedure only takes place at the Maastricht UMC+, part can also take place at the UMCG, UMCU or Amsterdam UMC. In short, it consists of the following steps:
3.3 Safety
With PGT it is not possible to get pregnant naturally. Nature is given a helping hand and that entails possible risks. With IVF treatment, as with most medical procedures, you have a small risk of bleeding or infection. In addition, overstimulation can occur due to the hormone treatment. Too many eggs are then produced in the ovary, which can cause abdominal pain. Sometimes the treatment should be stopped.7 As far as the safety of the child is concerned, little is known about the long-term effects.5 When PGT children are compared with IVF children, no indications are found that PGT causes more congenital abnormalities.
3.4 ADOA option
In 2017, the first PGT treatment in an ADOA patient, with the OPA1 gene, was approved by the National Indication Committee. This treatment also took place then. The wish for PGT at ADOA therefore no longer requires approval by the National Indication Committee. However, the couple still has to be approved for IVF and there must be an initial intake in Maastricht UMC+.
Literature
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