Reproductive Options for People With Fabry Disease
The thought of potentially passing Fabry disease on to your children can be daunting. However, there are options to limit this risk and help with family planning.
How is Fabry disease inherited?
Mutations in the GLA gene cause Fabry disease. This gene resides on the X chromosome. Fabry disease is passed on in an X-linked dominant pattern, meaning that one faulty copy of the gene is enough to cause the disease.
Women have two copies of the X chromosome, one from each parent, while males have one X chromosome, from their mother, and a Y chromosome, from their father. Since women have two copies of the gene, they can range from being asymptomatic to having severe symptoms.
If you are a man with Fabry disease, you will not pass the disease to any of your sons. However, you will pass it to all of your daughters. If you are a woman, all of your children will have a 50% chance of having the faulty gene depending on which X chromosome they inherit from you.
Can Fabry disease affect my pregnancy?
If you are a woman with Fabry disease, you can still get pregnant but are at a higher risk of complications during the pregnancy. A survey of 41 women with Fabry disease showed an increase in Fabry disease-related symptoms such as gastrointestinal distress, proteinuria (increased protein levels in the urine), headaches, and acroparesthesias (burning, tingling, or numbness sensations) during pregnancy.
The study also found an increase in the risk of preeclampsia, or dangerously high blood pressure during pregnancy, as well as postpartum depression in mothers with Fabry disease.
If you are planning on getting pregnant and either you or your partner have Fabry disease, you should discuss your options with your physician and a genetic counselor.
Prenatal genetic diagnosis
You also have the option to test your child for Fabry disease before they are born through a process called prenatal genetic diagnosis. Here, doctors collect DNA samples from the fetus and screen them for genetic disorders such as Fabry disease.
There are two main methods of collecting samples from the fetus: chorionic villus sampling (CVS) and amniocentesis.
Doctors usually perform CVS when your fetus is between 10 and 12 weeks old. For the procedure, he or she will insert a long needle through your abdomen or a catheter through your vagina in order to collect small finger-like projections, called villi, from the placenta. The placenta supplies blood and nutrients to the fetus and contains its genetic material.
For amniocentesis, the fetus is a little bit older, between 15 and 20 weeks. Here, the doctor inserts a long needle through the mother’s abdomen and into the amniotic sac surrounding the fetus. He or she collects a sample of amniotic fluid, which contains DNA from the fetus.
In vitro fertilization and preimplantation genetic diagnosis
Another option could be in vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD).
In IVF, sperm fertilize eggs in a laboratory setting. Doctors can then implant the embryos into the mother’s uterus to hopefully result in a pregnancy.
Clinicians can screen the embryos created by IVF using PGD. They can then select only those not carrying a disease-causing mutation for implantation into the mother’s uterus.
Other reproductive options using IVF
Other options include using a sperm or egg donor for IVF, or a surrogate to carry your baby to term.
If you choose IVF using a sperm and/or egg donor without the disease, the child would not be genetically related to either you or your partner or both.
If you are a woman with Fabry disease and you and/or your physician believe the possible risk of complications are too high for your potential pregnancy, you could choose to have a surrogate carry your baby.
Last updated: Sept. 25, 2020
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