Reproductive Options if You Are a Pompe Disease Carrier

Emily Malcolm, PhD avatar

by Emily Malcolm, PhD |

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If you are a carrier of Pompe disease, you may be wondering about the risks of passing the disease to your children. A carrier has one copy of a disease-causing mutation but does not have the disease themselves.

If your partner is not a carrier of a mutation that causes Pompe disease, your children will unlikely inherit the disease. However, they will have a 1 in 2 chance of being carriers like you.

If you and your partner are both carriers, or if one of you has Pompe disease, you may want to consider reproductive options. Talk to your doctor and a genetic counselor to determine which method would be best for you and your partner.

Prenatal screens

If you choose to conceive naturally, your child can undergo prenatal diagnosis for Pompe disease. Doctors use two main methods: amniocentesis and chorionic villus sampling.

In amniocentesis, the doctor inserts a needle into the uterus during pregnancy (usually through the abdomen) to collect a sample of amniotic fluid. This fluid contains some cells from the fetus, and these cells can be used for genetic testing.

In chorionic villus sampling, the doctor inserts a needle into the vagina or through the abdomen to collect a sample of the placenta.

Genetic testing can determine whether the fetus has genetic mutations that may cause Pompe disease.

In vitro fertilization

Sperm and an egg are combined in a laboratory to create an embryo in a process called in vitro fertilization (IVF). The doctor then implants this embryo into the uterus of the mother or a surrogate.

The IVF process can use reproductive material from you and your partner. Alternatively, you can request the use of a donor egg or sperm, in which case the child will be genetically related to only one of you. As long as the donor parent is not a Pompe disease carrier, the child may be a carrier but will not inherit the disease.

Alternatively, you can use both donor egg and sperm, and the child will not be genetically related to you or your partner.

Pre-implantation genetic diagnosis

Before the implantation process, an embryo created by IVF can be screened for genetic diseases. In this way, you and your partner could use your own genetic material and choose to implant only embryos that have no copies of a disease-causing mutation or embryos that have only one copy and would be considered carriers.


Last updated: June 8, 2020


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