Fabry Disease and Pregnancy

Emily Malcolm, PhD avatar

by Emily Malcolm, PhD |

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Fabry and newborn screening

Fabry disease is a rare genetic disorder caused by mutations in a gene called GLA. This gene provides cells with the instructions necessary to make the alpha-galactosidase A enzyme. Without this enzyme, fatty substances called sphingolipids cannot be broken down and build up in tissues, leading to damage to the heart and kidneys.

Can I get pregnant if I have Fabry disease?

Women with Fabry disease can get pregnant, but they have an increased risk of complications during pregnancy.

If you have Fabry disease, it is a good idea to discuss with your doctor and a genetic counselor before trying to get pregnant. Pregnancy is biologically stressful and involves many changes in a woman’s body to supply nutrients to the fetus, support its development, and prepare for birth. For patients with Fabry disease, this process can make heart and kidney symptoms worse.

In particular, preeclampsia (dangerously high blood pressure) is more likely to occur in pregnant women with Fabry disease.

Can I stay on my medication while pregnant?

Case studies have indicated that the enzyme replacement therapy Replagal may be safe during pregnancy and breastfeeding in women with Fabry disease.

There is also an observational clinical trial (NCT04252066) that will be recruiting patients with Fabry disease. The study will evaluate the outcomes of pregnancy and breastfeeding in women and infants exposed to Galafold. Galafold is a therapy that helps the GLA enzyme fold correctly, increasing the amount of functional protein available.

Can my baby inherit Fabry disease?

Fabry disease is a heritable condition, and patients with Fabry disease can potentially pass the disease on to their children. If you have Fabry disease, you should discuss with your doctor the risks that your child may inherit the disease.

Can I find out before birth if my baby will have Fabry disease?

Yes. There are procedures for genetic testing prior to birth such as amniocentesis and chorionic villus sampling to check whether the baby has inherited a disease-causing mutation.

Amniocentesis involves inserting a needle into the uterus to collect a small sample of amniotic fluid — the fluid that surrounds and protects the baby during gestation.

Chorionic villus sampling involves taking a small sample of the placenta, which contains the baby’s DNA. Doctors can collect this tissue through the cervix or through the abdomen.

Every medical procedure has risks. It’s important to discuss with your doctor any risks specific to your condition.

What precautions should I take during pregnancy?

The specific precautions you may need to take will depend on your symptoms. Since Fabry disease is very rare, it may be necessary for the obstetrician handling your pregnancy to consult with your primary care physician.

You should discuss whether your medication will need to change during your pregnancy. You should also keep a detailed log of your symptoms so that you can discuss with your care team whether any symptoms require additional treatment.

What happens after the baby is born?

You should discuss with your care team whether you will be breastfeeding after giving birth and whether your medications will need to change while you are nursing.

If your baby has not undergone genetic testing prior to birth, you should discuss with your doctor whether the baby should be tested for Fabry disease after birth.


Last updated: April 10, 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 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.