Preimplantation Genetic Diagnosis (PGD) for Fabry Disease

Brian Murphy, Ph.D. avatar

by Brian Murphy, Ph.D. |

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PDG and children

If you or your partner has a family history of Fabry disease, you may want to lower your risk of passing the disease to your children by choosing in vitro fertilization (IVF) and requesting a preimplantation genetic diagnosis.

How do children inherit Fabry disease?

Mutations in the GLA gene are known to cause Fabry disease. This gene encodes for an enzyme that breaks down a fat molecule called globotriaosylceramide. When the enzyme does not work correctly due to a mutation, the fatty molecule accumulates in the body and leads to the symptoms of Fabry disease.

The GLA gene resides on the X chromosome. Men have one copy of the X chromosome that they inherit from their mother, and a Y chromosome that comes from their father. Women have two X chromosomes, one from each parent.

A man with Fabry disease will not pass on the disease to any of his sons. However, he will pass it on to his daughters. A woman with Fabry disease has a 50% chance of passing the faulty gene to each child.

What is PGD?

A preimplantation genetic diagnosis, or PGD, is used to test embryos created through IVF for genetic disorders. Clinicians take small samples from each embryo and analyze them genetically. They look for mutations linked to Fabry disease and for other genetic disorders. Depending on the results, you will meet with a genetic counselor and can decide whether you want to have any of the embryos transferred into the mother’s uterus.

Concerns with PGD

PGD can greatly reduce the risk of having a child with a rare disease such as Fabry. However, there is still a risk that random or de novo mutations occur during early development, leading to a genetic disorder. Prenatal screening can be used to test for any of disorder that might happen during pregnancy.

Another concern with PGD is that embryos not used for pregnancies are destroyed, which can raise ethical concerns for some people.


Last updated: Oct. 2, 2020


Fabry Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare providers with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.