What to know about Gaucher disease genetics and testing

Last updated June 20, 2025, by Agata Boxe
Fact-checked by Inês Martins, PhD

Thinking about starting a family while living with Gaucher disease can bring up a lot of questions. You may wonder about your fertility or the chances of passing the condition on to your child.

These are natural concerns, but understanding more about genetics, pregnancy with Gaucher, and available testing options can help ease some of the uncertainty that comes with family planning.

Gaucher disease and genetics

Genetics play an important role in Gaucher disease, as whether or not a child inherits the condition depends on which parents carry changes in the GBA1 gene, and whether they are carriers or have Gaucher disease.

Someone who inherits only one mutated GBA1 gene is considered a carrier, but carriers do not have Gaucher disease or experience symptoms. They can, however, pass the gene onto their kids.

When both parents are carriers, each pregnancy has a 25% chance that the baby will have Gaucher disease. That risk increases when a carrier has a child with a person who has Gaucher disease.

For people with the disease, the following statements apply:

If you have Gaucher disease but your partner does not carry a Gaucher mutation, all of your children will be carriers.
If you have Gaucher disease and your partner is a carrier, your children will have a 50% chance of having Gaucher disease and a 50% likelihood of being carriers.
If both you and your partner have Gaucher disease, all your children will also have Gaucher disease.

Pregnancy and Gaucher disease

Gaucher disease itself does not cause issues with fertility and does not make it more challenging to get pregnant.

However, it might increase the risk of miscarriage, especially in untreated women. Pregnancy with Gaucher can also potentially cause:

anemia or low levels of red blood cells
the onset or worsening of Gaucher symptoms
a low blood platelet count and bleeding issues
an enlarged spleen that could affect fetal growth
bone loss during breastfeeding.

Managing Gaucher during pregnancy is essential for handling and potentially reducing these risks. Make sure to regularly communicate with your Gaucher team and your OB-GYN and let them know about any issues that arise.

Genetic counseling

Genetic counseling can help you understand your family history, genetic testing options, and potential outcomes for your family.

If you or your partner are carriers or have the disease, a genetic counselor can serve as a source of support and reliable information about your reproductive choices and the potential risks.

They can also support you in navigating the emotional and psychological aspects of being a carrier or having the disease.

Finally, they can help you make informed decisions about family planning that respect your values and goals.

Carrier screening and prenatal testing

Carrier screening involves collecting a blood or saliva sample and analyzing it for mutations in the relevant gene.

The following groups should consider carrier screening:

people with a family history of Gaucher disease
people in higher-risk populations, such as Ashkenazi Jews
those who are in a relationship with someone who has Gaucher.

If both partners are carriers, their doctor may recommend:

in vitro fertilization with preimplantation genetic diagnosis
egg or sperm donation
prenatal testing.

Prenatal testing involves chorionic villus sampling (CVS) or amniocentesis (sampling womb fluid), which can detect Gaucher disease in a developing fetus. CVS is done at 10 to 13 weeks of pregnancy, whereas amniocentesis is done at 15 to 20 weeks.

Family planning with Gaucher can be stressful, but the right information and expert support can help you make the best decisions for you and your loved ones.

Gaucher 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 health provider 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.