Parents of a child that has been diagnosed with Fragile X Syndrome (FXS) may want to have another child and ask themselves if their next child will also have FXS. As FXS is a genetic condition that is a possibility. The chance that the next child will also have Fragile X Syndrome is about 50:50. IMPORTANT: This probability is the same whether or not the previous children have FXS.
It is possible to use medical interventions that are aimed at ensuring a future child does not have FXS. This is an ethically problematic topic. Some parents may feel that avoiding a second child with FXS indicates that they also do not really accept their first child. Other parents may prefer to avoid a future child having FXS, much as they love their affected child. None of the available options that families have in this situation are unproblematic.
In what follows here, a few things must be kept in mind, and you must have understood and accepted these before continuing to read:
If families have a child with FXS, there are various options for family planning:
- Fragile X International was NOT founded to avoid people with Fragile X Syndrome, but rather, to help them and their families. But the topic of this section does of course play a role in the lives of many families, which is why we include it here.
- The information given here is not meant to be a substitute for proper family counselling, including genetic counselling and consultation of a medical doctor.
- Fragile X International is not responsible for any consequences that reading of the information below may have.
- Some of the information given below will need to be balanced with people's religious or ethical beliefs.
- Decide not to have another child.
- Decide to have another child without any interventions/testing.
- Do prenatal testing for FXS.
- Do preimplantation diagnostics (PGD).
Option 1: This might be a “reasonable” option if the child with FXS is not the first child and has a sibling without FXS. If it is the first child, the desire of parents to have another child without FXS may be strong. Also, all siblings do benefit from each other. Children with FXS may particularly benefit from having a sibling. A lot of families report that their child without FXS benefited from being in the special situation of having a sibling with a disability. That may, however, also put a significant burden on the sibling without FXS. Also, some families with two children with FXS have noticed the co-dependency and special relationship they have with one another, supporting each other in a shared condition.
Option 2: Some families find this unsuitable, as their child with FXS already requires so much attention that they don’t have enough capacity to care for another child that may have FXS. However, in other cases, parents feel they have enough capacity that they don’t find it necessary to consider options 3 or 4; or for moral or ethical reasons wish to have a child regardless of whether the child might have FXS or not.
For both options 3 and 4, it is important to remember that these can only prevent the child from being born with FXS. But there are many thousands of other conditions that can affect humans. So, you cannot guarantee that even if steps are taken to avoid the birth of a child with FXS, that the child will be ”healthy”. This may be a somewhat scary thought, but it is important to keep in mind.
Option 3: Prenatal testing means that a needle will be inserted into the uterus of the pregnant mother to gain a sample of the amniotic fluid that can then be tested to see if the embryo has FXS or not. This process, which is called amniocentesis, is not innocuous, as it may harm or even kill the embryo. So far, there is no non-invasive test for FXS such as the blood sample test for Down Syndrome. The most problematic part is the decision of what to do if there is a positive test for FXS ( which means that the child will most likely (but not 100%) be born having Fragile X Syndrome). Parents should be aware that at that stage, the only way to avoid having a FXS child is to have an abortion.
Some may decide to have the prenatal test in order to be best prepared to welcome their FXS baby, which is a reason to consider testing, even if you are not prepared to have an abortion..It is beyond the scope of this website to discuss all aspects of prenatal testing and abortion. Rather, it requires good genetic, medical and psychological counselling.
Option 4: Preimplantation diagnostics (PGD) means that after an medically assisted conception in a test tube, one cell of the embryo at a very early stage will be taken away from it and tested for FXS. If the test indicates that the embryo has not inherited the Fragile X chromosome, the embryo can be implanted into the uterus and may develop into a child without Fragile X Syndrome. If the test indicates the embryo has FXS then another embryo will be tested. However, this process is complex and can carry physical and psychological burdens.. In many cases, the embryo implantation is unsuccessful in the sense that it does not result in a pregnancy. Also, preimplantation diagnostics is expensive and will normally not be paid by any health insurance, though it is sometimes covered by nationalised health systems.
Both options 3 and 4 are not available in many countries for cultural, ethical, religious or health system related reasons or combinations thereof. As mentioned above, family planning cannot be completely covered by this short summary and needs proper family, genetic, and medical counselling.