Gaucher disease and pregnancy: Family planning

Last updated June 18, 2025 by Agata Boxe

✅ Fact-checked by Inês Martins, PhD

 

Planning a family when you have Gaucher disease means considering a variety of medical and personal factors. Understanding how Gaucher disease and pregnancy relate can help you prepare for the journey ahead.

By exploring your treatment options and reproductive choices early, you can make informed decisions that fit your family-planning goals.

Genetic counseling: The first step

Learning how Gaucher disease is inherited, and seeking Gaucher disease genetic counseling can help you understand the chances of passing the condition to your children. This is an important step in family planning for genetic conditions.

Gaucher disease is an autosomal recessive disorder, meaning that a child must receive two copies of the mutated GBA1 gene — one from each parent — to develop the disease.

If you have Gaucher disease, learning whether your partner is a Gaucher disease carrier or also has the condition can help you understand what to expect for your children:

  • If your partner is not a carrier of the mutated GBA1 gene, all your children will be carriers but will not have Gaucher disease.
  • If your partner is a Gaucher disease carrier, each of your children has a 50% chance of having Gaucher disease and a 50% chance of being a carrier.
  • If both you and your partner have Gaucher disease, all of your children will also have the condition.

A genetic counselor can tell you more about your child’s exact risk of inheriting Gaucher disease. They can also help by:

  • discussing your pregnancy risks with Gaucher disease
  • answering questions about your reproductive options, such as in vitro fertilization (IVF), with Gaucher disease
  • referring you to other Gaucher disease support resources.

Because genetic counseling provides crucial information about inheritance and reproductive choices, it plays an important role in Gaucher disease family planning, empowering you to make decisions with confidence and clarity.

Your family planning options

Once you’ve understood the genetics of Gaucher disease and the risks of passing down the disease to your children, you can make more informed decisions about starting a family. Pathways to parenthood you may want to consider include natural conception, IVF, and adoption.

Natural conception

You and your partner may choose to conceive naturally, although you may need to weigh the risk of passing Gaucher disease to your child based on your genetic status.

Natural conception may be your choice if the risk of inheritance is low or when both parents are prepared for the possibility of their child developing Gaucher.

Prenatal testing for genetic conditions may be recommended in some pregnancies to determine whether the fetus has inherited the disease.

IVF with preimplantation genetic testing

IVF involves collecting eggs and fertilizing them in a lab to create embryos. With preimplantation genetic diagnosis for Gaucher, these embryos can be tested for specific disease-causing mutations before being implanted in the uterus.

This approach is used to ensure that only embryos without Gaucher disease are implanted, drastically decreasing the risk of passing on Gaucher to a biological child.

Use of donor egg or sperm

For couples where one or both partners are carriers or have Gaucher, using reproductive cells from a person who is not a carrier can eliminate the risk of passing the condition to a child.

A genetic counselor can help you navigate medical, emotional, and ethical considerations related to choosing this option.

Adoption or surrogacy

Adoption can provide you with a chance to become a parent without the risk of passing on Gaucher, and surrogacy can be considered for women who are advised against pregnancy due to a risk of complications.

Your genetic counselor can provide you with more information about your reproductive options with Gaucher disease and help you make a decision that feels right for you.

Planning a pregnancy when you have Gaucher disease

If you have Gaucher and are considering getting pregnant, careful planning and multidisciplinary medical care can increase the chances of a healthy pregnancy and delivery.

Medication management

Learning how to manage Gaucher disease during pregnancy is the first step to addressing symptoms and taking care of your well-being.

In general, women with Gaucher who are on enzyme replacement therapy (ERT) can safely continue their treatment during pregnancy. In fact, women who receive treatment throughout pregnancy tend to have healthier pregnancies as well as a lower risk of miscarriage and postpartum hemorrhage.

However, substrate reduction therapy (SRT) is not generally recommended for use during pregnancy due to limited data about its safety for pregnant women. If you’re currently on SRT and planning to become pregnant, your doctor will likely recommend switching to ERT. You may then be able to switch back to SRT after pregnancy and breastfeeding, depending on your provider’s guidance.

Multidisciplinary care

Planning a pregnancy with Gaucher often requires a multidisciplinary approach. A team of experts can help you to prevent or address complications such as the onset or worsening of Gaucher signs and symptoms.

Your team may include:

  • a Gaucher specialist
  • a maternal-fetal medicine specialist
  • a genetic counselor
  • a hematologist.

Considering a pregnancy with the condition may undoubtedly bring up questions and potential concerns, but a strong team of qualified experts can provide answers and other support you may need.

Whatever path to family planning you choose, knowing your options and understanding Gaucher disease inheritance can help you feel more prepared as you plan for the future.

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.

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