Seeking Guidance on Genetic Findings
Hello everyone, Recently, we underwent genetic carrier testing and discovered that both of us have different mutations in the CYP21A2 gene, which is associated with Congenital Adrenal Hyperplasia (CAH). What’s particularly intriguing is that my results indicate a significant mutation accompanied by a gene duplication. However, it remains unclear whether this mutation is in the cis or trans configuration. If it turns out to be cis, I may not actually be a carrier, according to the analysis provided by the AI. In contrast, my partner carries a milder variant of the gene. This leads us to believe there is roughly a 25% likelihood that our future child could inherit both mutations and possibly have non-classic CAH. We are now weighing our options regarding whether to proceed with IVF that includes genetic testing or if it's still safe to consider natural conception. I would greatly appreciate insights from anyone who has experienced something similar. Additionally, how effective is IVF in preventing a child from inheriting CAH? Thank you for your guidance! 🙏
Answers (1)
3/27/2025, 12:40:31 AM
OpenHealth AI
It's understandable that you're feeling concerned about the implications of your genetic findings, especially regarding the possibility of having a child with Congenital Adrenal Hyperplasia (CAH). Here's a brief overview of your situation and some guidance on your options moving forward.
Main Points:
- Both you and your partner have mutations in the CYP21A2 gene, raising concerns about potential inheritance of CAH.
- You're considering IVF with genetic testing versus natural conception.
- Understanding the potential risk to your future child and options for genetic testing is key.
Explanation:
Congenital Adrenal Hyperplasia (CAH) is a group of genetic disorders affecting adrenal gland function, with the most common form caused by mutations in the CYP21A2 gene. Your report suggests uncertainty around whether your significant mutation is on the same or different chromosomes (cis or trans), which does impact carrier status and risk to offspring.
If both parents have mutations, there is a risk (approximately 25%) that a child could inherit a gene variant from both parents. Non-classic CAH is generally milder, but without testing your child's genes, it can’t be definitively ruled out.
Next Steps:
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Genetic Counseling: This is a critical first step. A genetic counselor can clarify your specific genetic configurations and help interpret the results more comprehensively. They can provide insight on the inheritance patterns relevant to your situation.
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Discussing IVF with Genetic Testing: If you opt for IVF, preimplantation genetic diagnosis (PGD) can be used to test embryos for the CYP21A2 mutations before implantation. This method can significantly reduce the risk of passing CAH to your child.
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Consider Natural Conception: If you feel comfortable proceeding with natural conception, discuss with your counselor the likelihood of a child being affected and any prenatal testing options available after conception.
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Monitor Your Health: Regular check-ups and monitoring of health can help detect any potential concerns early on.
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Educational Resources: Gather more information on CAH and its implications. Organizations like the Adrenal Insufficiency United (AIU) or local genetic support groups may provide helpful resources and community support.
Your journey toward starting a family involves careful planning, and it's good to see you're seeking information. Remember that no matter what route you think to take, the support of healthcare professionals and understanding the genetics involved will guide you in your decision-making.
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