Carrier testing and reproduction: your options

Muscular Dystrophy UK supports people living with around 60 different muscle-wasting conditions. If you have one of these conditions, or one of your relatives has, and you are planning to start a family, you may want to ask yourself: am I a carrier, and if so, will I pass the condition on to my children?

The answers to these questions will vary according to the type of condition, its inheritance pattern, and how much is known about its genetic causes. To find out if carrier testing is available for the condition in which you are interested, you can contact your local genetic counselling centre. A geneticist can discuss with you your particular circumstances, and how they might affect the possibility and accuracy of testing.

It’s important to note that genetic tests may take several weeks or months to complete. With this in mind, it is advised that you do these before planning a family and a pregnancy.

Once you know the results, you will have time to think through the various options open to you, and then discuss these with specialists at a genetic counselling centre.

This factsheet is designed as a reference guide for some of the general techniques and genetic tests that can be used to find out if you may be a carrier.

What is a carrier?

A carrier is a person who usually shows no symptoms of a condition, but carries the genetic mutation (sometimes called a ‘faulty’ or ‘altered’ gene) that causes it. A carrier may have very mild symptoms of a condition, and may not have been diagnosed as having it, but still carries the genetic mutation that causes it.

There is a risk that a 'carrier' will pass the mutation on to his or her children, and that they themselves might be affected by, or be carriers of, the condition. The level of risk depends on the inheritance pattern of the condition. (You can find this information in the Muscular Dystrophy UK factsheet relating to the condition in which you are interested, as well as our Inheritance and the muscular dystrophies factsheet, or you can discuss this with your geneticist.)

What is ‘carrier testing’?

When someone is affected by a particular condition, this is usually evident on clinical examination. Carrier tests are designed to discover whether or not a person who has no symptoms of a condition carries the genetic mutation that causes it.