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If you and your partner are looking to start a family or add to your existing one, the Canavan Foundation strongly recommends preconception carrier screening that will provide you with critical information to help build a healthy family.

Planning for a family can be one of the most exciting times in life, yet it also raises many questions. One concern is understanding the risk of having a child with a genetic disorder. At the Canavan Foundation, we have seen firsthand how early knowledge and preconception genetic carrier screening helps parents detect potential risks to a child and manage them with the help of a genetic counselor. Below, we share key insights about the influence of genetics on child development and emphasize why genetic carrier screenings are vital.

The Basics of Genetic Inheritance

Genetic information is passed from parents to children through genes, which provide the blueprint for every individual’s biological makeup. This blueprint can determine traits like eye color or height, but it can also reveal predispositions to certain health conditions. Sometimes, individuals carry genes associated with rare genetic disorders in babies, although these genes may not always manifest visibly in the parents. Even individuals without any known personal or family history of childhood genetic disorders can still pass them on.

Many genetic disorders that present in childhood occur when both parents carry a mutated gene for the same condition. This type of inheritance is called “autosomal recessive,” meaning each parent must pass down the mutated gene for the child to be affected. Depending on the condition, a baby with an autosomal genetic disorder may may remain asymptomatic for years, experience mild symptoms, severe complications, or, in some cases death.  Because of this, it is highly recommended for anyone who is planning to have a child to get screened to see if they are a carrier.

Why Carrier Status Matters

When you are a “carrier,” you possess one mutated copy of a gene for a specific disorder, yet you might never show symptoms. However, if both parents are carriers of the same genetic mutation, each pregnancy has a 25% chance of resulting in a child who receives both mutated copies of the gene and will be affected by the disorder.

Identifying your carrier status early, ideally before pregnancy, gives you the power to make informed decisions. According to theCenters for Disease Control and Prevention (CDC), understanding your genes can guide family planning and medical care.  If both you and your partner are carriers of the same disease, you can explore options such as advanced reproductive technologies, preconception counseling, or additional prenatal tests.

The Importance of Genetic Carrier Screenings

We recommend a thorough carrier screening for anyone planning to start or add to their family, ideally before pregnancy.  Early detection leads to proactive planning and management. Whether it is a decision to turn to assistive reproduction technologies or knowing what to do in the case that a child has a rare genetic disorder, having this information ahead of time can be life-changing.

If you are considering pregnancy, consider reaching out to your health provider for a comprehensive genetic carrier screening. A woman’s Ob-Gyn is generally the first place to turn. A genetic counselor may be brought in as necessary. By assessing your own risk, you can gain a clearer picture of potential risks and available interventions.

What Does a Carrier Screening Involve?

• Family History Review: Doctors or genetic counselors will examine your family history to pinpoint any known conditions.

• Blood or Saliva Test: A simple sample can reveal genetic mutations you may carry.

• Counseling Session: After receiving your results, you will discuss the findings and possible next steps, such as fertility planning or targeted prenatal testing.

Spotlight on Canavan Disease

Given our history, one of the diseases for which we recommend screening is Canavan disease, a neurological disorder characterized by the deterioration of the white matter in the brain. It is one of the rare genetic disorders in babies that can have severe, life-altering effects or prove fatal.  Carriers are rarely aware they possess a mutated gene. Learn more about this condition’s origins, symptoms, and latest research.

If both parents carry the mutated gene for Canavan disease, each child has a 25% chance of being affected. Early detection and intervention can make a significant difference in quality of life. Families have reported improved outcomes when they receive genetic counseling and work closely with healthcare providers familiar with the complexities of Canavan disease.

Taking Action for a Healthier Future

Knowledge is power. By learning more about your genetics through carrier screenings, you give yourself and your future children the best chance for a healthy life. We encourage you to stay informed about potential child genetic disorders, remain proactive, and consult your healthcare provider if you have any concerns. By taking steps toward early detection, you can help ensure your family’s health and well-being — now and for generations to come.

The Canavan Foundation is dedicated to educating at-risk populations about Canavan disease and other genetic diseases and the reproductive options available to carrier couples. We encourage preconception genetic carrier screening whenever appropriate. In addition, the foundation supports research towards treatments and a cure for Canavan disease. You can look into getting screened today or support our critical work by making a donation!