Planning for pregnancy can involve many emotions: excitement, wonder, curiosity, and more. Fortunately, advances in technology give parents-to-be the option to be more informed than ever before about their pregnancy. One of these testing options includes preconception genetic testing.
Preconception genetic testing offers individuals the ability to screen their genes and analyze the risk that they might have a child with a certain genetic disorder. These screening tests provide insight into recessive genetic diseases, including Tay-Sachs disease, cystic fibrosis, and sickle cell anemia.
What is a Recessive Genetic Disorder?
A recessive genetic disorder is a condition that is inherited when an individual receives two copies of a mutated recessive, or non-dominant, gene. This is different from dominant disorders, in which only one copy of a mutated dominant gene is needed in order to induce the genetic condition. This means that both parents must be carriers in order for there to be a possibility of having a child with a recessive genetic disorder.
How Does Preconception Genetic Testing Work?
Using a simple blood draw, scientists can analyze the sample in search of more than 250 genetic disorders. The results of these tests will indicate whether an individual is a carrier of a specific genetic disorder. Preconception genetic testing can benefit every couple by giving them more information prior to pregnancy. However, two major situations that may prompt your doctor to recommend carrier screening are:
#1: Family History of Genetic Conditions
Individuals with a family history of genetic conditions are at a higher risk of having children with genetic disorders. Many individuals may be carrying a mutated gene associated with a specific disorder and will not know it. This is because as a carrier of a recessive gene, symptoms do not present themselves.
A mutated recessive gene remains dormant in carrier individuals and only becomes active when two copies of the mutated gene are received. When this occurs, a genetic condition is inherited and symptoms present themselves.
#2: You Belong To a High-Risk Ethnicity Group
Genetic disorders occur among all ethnic groups. However, certain ethnicities are at a higher risk of specific recessive genetic conditions. Some examples include:
Sickle-cell anemia – More common in individuals of African and Mediterranean descent.
Tay-Sachs disease – More common in individuals of Ashkenazi Jewish and Cajun- and French-Canadian descent.
Cystic fibrosis – More common in individuals of Caucasian descent.
If you don’t know your family history, a preconception genetic test can reveal important information about the chances of having a child with a genetic disorder.
What Are the Benefits of Preconception Genetic Testing Before Conception?
When performed prior to conception, couples have as much time as they need to discuss test results. If necessary, couples will also have time to explore all alternative options for conception, such as IVF.
Discuss Any Concerns With Your Doctor
Discussing your concerns with a genetic counselor or with your doctor can help you better understand what the results of preconception genetic testing mean for you and your child as well as what comes next.
Laura Johnson is a part time blogger and full time adventurer. She enjoys writing about anything passions, and her calling to serve. This especially includes her passion for self growth, science, educating others on addiction recovery, and self love!