Genetic carrier screening is a type of medical test that can identify individuals who carry a gene for a specific inherited disorder. This test is typically offered to individuals who are planning to have children or who have a family history of a genetic disorder.
The goal of carrier screening is to identify people who are at increased risk of passing on an inherited disorder to their children. This information can help people make informed decisions about their reproductive plans and can also help healthcare providers provide appropriate care and support.
There are several different methods that can be used for genetic carrier screening, and the specific approach used will depend on the specific condition being tested for.
In some cases, a blood or saliva sample may be collected from the individual and analyzed in a laboratory to identify any genetic mutations that may be associated with a particular inherited disorder.
In other cases, a healthcare provider may perform a physical exam and order imaging tests, such as an ultrasound, to look for signs of a genetic disorder.
Here are seven potential benefits of genetic carrier screening:
Genetic carrier screening is typically recommended for individuals who are planning to have children or who have a family history of a genetic disorder. It is important to note that not everyone will need to undergo genetic carrier screening, and the decision to do so should be made in consultation with a healthcare provider.
A healthcare provider can assess an individual’s personal and family medical history and determine whether genetic carrier screening is appropriate. In some cases, genetic carrier screening may be recommended for people who are in certain ethnic or racial groups that have an increased risk of certain inherited disorders.
By identifying individuals who are at increased risk of passing on an inherited disorder to their children, genetic carrier screening can help couples make more informed decisions about their reproductive plans.
For example, if both members of a couple are found to be carriers of the same inherited disorder, they may choose to use assisted reproductive technologies, such as in vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD), to avoid having a child with the disorder.
If you’re planning a pregnancy, talk to your doctor about the tests you should get done before conceiving.