Preconception Genetic Testing: A Step Towards a Healthy Pregnancy

Planning for a baby is exciting, and carrier genetic testing offers valuable insights to help you prepare for a healthy pregnancy. Preconception genetic testing provides crucial information about potential genetic conditions that could affect your future child, empowering you to make informed decisions about your family planning journey.

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Understanding Preconception Genetic Testing

Preconception genetic testing, also known as carrier screening, examines your genes to identify if you or your partner carry genetic variations, or mutation, that can cause disease. Our DNA is the instruction manual by which our bodies grow, develop and function. Genes are small sections of our DNA, each with a job to do. We each have two copies of every gene in every cell of our bodies, one inherited from each of our parents. When an individual carries a single copy of a mutation in an autosomal recessive gene, that mutation renders one copy of the gene non-working.

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However, because the other copy of the gene kicks in as backup, an individual will typically have no symptoms of the condition themselves, and will usually have no idea they are a carrier. This is part of why carrier screening is so important. If both you and your partner carry a genetic mutation in the same gene, there would be a 25% chance for any of your offspring to inherit both mutations, one from each parent. When two mutations are inherited, and neither copy of an autosomal recessive gene is working, that individual would be considered affected with the condition. 

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Symptoms of autosomal recessive conditions range, but can be very severe. Taking a proactive approach to family planning helps you understand potential genetic risks before pregnancy, and allows for informed decision making.

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What to Expect from Testing

Preconception genetic testing is comprehensive and efficient. Through partnerships with leading laboratories like Myriad Genetics, testing facilities use advanced technology to screen for hundreds of genetic conditions that could affect pregnancy and the health of a child. The genetic testing process covers the following areas: 

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1. Consultation and Education: Here you learn about testing options and what results mean
2. Sample Collection: A quick and painless sample collection
3. Professional Analysis: This is an expert laboratory evaluation of parts of your DNA
4. Option for Results Review: A detailed discussion of findings with genetic counselors
5. Planning Support: Guidance for next steps based on results

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Understanding Carrier Screening Results

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Your test results are typically reported out as follows:

1. Negative: No concerning genetic variations detected at all
2. Carrier: You carry one or more  genetic mutations

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If both you and your partner carry mutations in the same gene you would be considered a high risk carrier couple. In this case, there would be a 25% with every pregnancy to have an affected child.

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Making Informed Choices

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If you and your partner are both carriers for mutation in the same gene, you will have a number of options as you plan your family

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• Natural pregnancy with the option for early prenatal testing to ascertain whether the pregnancy is affected.  Appropriate monitoring and early treatment of an affected newborn can be important in this case.  
• Assisted reproductive technologies that allow testing of embryos to ensure a healthy pregnancy
• Adoption or other family building alternatives such as egg or sperm donation

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Benefits of Preconception Genetic Testing

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Informed Decision Making

Knowledge is power when it comes to family planning. Carrier screening provides valuable insights that help you:

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• Understand genetic risks to your offspring
• Make informed decisions about pregnancy planning
• Discuss relevant options with healthcare providers
• Prepare for potential challenges ahead

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Early Prevention and Management

If you choose to pursue a natural pregnancy despite the chance your child may inherit a condition, or find out about genetic risks to your baby during an already existing pregnancy, prenatal testing is available. Early awareness of whether a fetus is affected allows you to:

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• Work with healthcare providers to develop specialized pregnancy care plans
• Access appropriate prenatal interventions
• Connect with support networks and resources
• Prepare emotionally and practically for various outcomes

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When to Consider Testing

Ideal timing for preconception genetic testing is:

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• When you're beginning to think about starting a family
• 3-6 months before any planned pregnancy
• Before fertility treatments
• When you find out you have a family history of a genetic conditions

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Expert Support Throughout the Journey

Genetic counseling is an essential part of the testing process, and can help you: 

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• Understand your test results
• Navigating decision-making
• Access additional resources
• Connect with healthcare providers

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Taking the Next Step

Preconception genetic screening is an empowering tool for family planning. By understanding your genetic results before pregnancy, you can make informed decisions and prepare appropriately for your journey to parenthood.

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Consider speaking with a healthcare provider about how genetic testing can play a role in your family planning goals, or visit us at jscreen.org for more information. With modern testing options and professional support, you can approach pregnancy preparation with confidence and peace of mind.

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Remember, knowledge about your genetic health is a powerful tool for family planning – and does not have to be frightening . Whatever your results may be, expert support and numerous 

options are available to help you build the family you envision.

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