The DNA we carry with us is very important, especially when having a baby. While the vast majority of American babies are born healthy, genetic mutations can be passed onto our children through abnormalities in our own DNA. Genetic mutations are abnormalities within the DNA sequences that make up genes.

Some genetic mutations are benign (harmless) and cause no change of health to the individual. However, certain genetic mutations can lead to serious disorders that can severely impact one’s health.

How Do Genetic Mutations Occur?

Genetic mutations can occur in one of two ways:

1. Inherited genetic mutations: Inherited genetic mutations are passed onto a child via an affected egg or sperm cell. Inherited genetic mutations usually occur in all cells or mostly all cells in the body and can lead to conditions like Down syndrome.

2. Acquired genetic mutations: Acquired genetic mutations can occur during a person’s life when random errors in cell division result in a genetic mutation. The cell affected by this genetic mutation continues to divide and create new cells with the same genetic mutation. Acquired genetic mutations tend to only affect cells in a certain area of the body and can cause regional disease: for example, lung cancer. Acquired genetic mutations are not passed onto children.

When Genetic Mutations Lead to Inherited Genetic Disorders

It’s possible to have a genetic mutation associated with a serious inherited genetic disorder without actually having the condition. When this occurs, the person is referred to as a genetic carrier. A genetic carrier is said to “carry” the mutation because they can pass it to their children.

Inherited genetic disorders associated with genetic carriers are referred to as recessive. Recessive disorders require that a child receives two copies of the same genetic mutation to develop the condition — one from the mother and one from the father. This is different from dominant inherited genetic disorders. Dominant disorders only require that the child receive one copy of the genetic mutation to develop the condition. If someone has a dominant inherited genetic disorder, they will definitely develop the condition and will knowingly have the associated genetic mutation.

How Can I Prevent Passing on a Genetic Mutation?

If you’re interested in learning whether you carry a genetic mutation associated with an inherited genetic condition, you can ask your doctor about carrier genetic testing. Carrier genetic testing is a simple blood test that analyzes DNA from a sample of your blood. The results from this test tell your doctor whether you’re a carrier of a genetic mutation associated with an inherited genetic condition.

How Can Carrier Genetic Testing Help Me Plan My Family?

The information obtained from a carrier genetic test can help couples when planning a pregnancy. If you test positive for a genetic mutation, it does not necessarily mean that your child will inherit this mutation or develop its associated disorder — you’ll want your partner to also undergo carrier genetic testing. If your partner tests negative for a genetic mutation, there is a zero percent chance your child will develop a recessive genetic condition. If both you and your partner test positive for a genetic mutation, there is a 25% chance your child will inherit both copies of the mutation and develop the genetic disorder.

Sources

https://ghr.nlm.nih.gov/primer/mutationsanddisorders/genemutationhttps://kidshealth.org/en/parents/about-genetics.htmlhttps://kidshealth.org/en/teens/genes-genetic-disorders.html

https://learn.genetics.utah.edu/content/basics/mutation/

https://www.nature.com/scitable/topicpage/genetic-mutation-1127

https://genetics.thetech.org/about-genetics/mutations-and-disease

https://www.mayoclinic.org/autosomal-recessive-inheritance-pattern/img-20007457