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Making decisions about genetic testing can feel overwhelming when you're on your fertility journey. With multiple testing options available and complex information to process, many people wonder where to start and which tests are right for them. That's where genetic counseling comes in - it's the crucial first step in understanding your options and making informed decisions about genetic testing.
Understanding Your Next Best Step: The Foundation of Genetic Counseling
Before diving into specific tests, meeting with a genetic counselor helps you understand which options make sense for your situation. These specialists serve as your guides through the complex world of genetic testing, helping you:
- Understand your family health history
- Evaluate which tests might be beneficial
- Make informed decisions about next steps
- Interpret results and plan future care
Time for Testing: Understanding the Options
There are several types of genetic tests available for those on their fertility journey, each serving a different purpose and providing unique insights. After you meet with your counselor they might recommend any of the following (and here is what you can expect):
Carrier Screening
Carrier screening checks if you or your partner carry genetic variations that cause a disease if they are passed to your children. It's like checking your genetic blueprint for potential hereditary conditions.
What to Expect:
- Simple blood or saliva test
- Results typically available in 2-3 weeks
- Tests for 100+ inherited conditions
- Can be done before or during pregnancy
Success Rates and Accuracy:
- Over 99% accurate for most conditions tested
- Detects up to 90% of carriers for common conditions
- May need periodic update
Physical and Emotional Considerations:
- Minimal physical impact - just a blood draw or saliva sample
- Results can cause anxiety - genetic counselors help you prepare
- May affect family planning decisions
- Some results require partner testing
Preimplantation Genetic Testing (PGT)
PGT examines embryos created through IVF before transfer. There are three main types:
PGT-A (Aneuploidy Screening):
- Checks for typical chromosome number
- Helps select embryos most likely to result in pregnancy
- Particularly beneficial for women over 35
Process:
- Embryo biopsy on day 5-7 of development
- Results in 7-10 days
- Requires freezing embryos while awaiting results
Success Rates:
- Can increase IVF success rates by 10-15%
- Reduces miscarriage risk by up to 40%
PGT-M (Testing for Monogenic/Single Gene Conditions):
- Identifies specific inherited genetic conditions
- Used when parents are known carriers
- Custom-designed for your specific genetic condition
Process:
- Requires 2-4 weeks prep time to design custom test
- Embryo biopsy on day 5-7
- Results typically in 10-14 days
- Success rates:
- 98% accuracy for tested conditions
- 25-30% of embryos typically unaffected
- Live birth rates similar to PGT-A
PGT-SR (Structural Rearrangements):
- Tests for chromosome structure changes
- Used when a parent has a known chromosome translocations
- Can help prevent miscarriage and birth defects
Process:
- Embryo biopsy on day 5-7
- Results in 7-10 days
- Success rates:
- 95% accuracy
- 30-40% of embryos typically normal
- Reduces miscarriage risk by 60%
Genome Medical Can Help
Understanding genetic testing options can feel overwhelming - from choosing the right tests to interpreting results and making decisions about next steps. That's why having an experienced guide is so important. At Genome Medical, the genetic counselors specialize in helping people navigate these complex choices and create a personalized plan for their fertility journey.
They’ll walk you through each step, explain your options in clear language, and help you make informed decisions that align with your goals. Whether you're just starting to explore genetic testing or have specific questions about certain tests, they’re here to help. Schedule a consultation with a genetic counselor today to get the clarity and confidence you need to move forward.
