Understanding Your Genetic Blueprint
Genetic carrier screening is a test that can identify whether you and your partner carry genetic mutations that can put you at risk for having children with serious genetic disorders. Most people who are carriers for genetic mutations are themselves healthy and may not even have a family history of the disorder. But if they and their partner are both carriers for the same disease-causing mutation, then the resulting child can have a significant chance of having the disorder. Knowing whether or not you are a carrier is important because if you and your partner are both carriers for the same disease-causing mutation, then IVF and PGT-M can be done to screen for embryos that are not affected by both mutations, and hence the disorder can be avoided in subsequent children. At Dr. Chavkin’s comprehensive fertility practice in Beverly Hills, CA, we offer carrier screening to help you make informed decisions about your reproductive health and family planning.
Identifying Genetic Risks
Carrier screening typically involves a blood or saliva test that analyzes your DNA for specific gene mutations associated with hundreds of inherited genetic disorders, such as:
- Cystic Fibrosis
- Spinal Muscular Atrophy (SMA)
- Fragile X Syndrome
- Sickle Cell Anemia
- Thalassemia
- Tay-Sachs Disease
- And many others
Knowing your carrier status can help you understand the potential risks of having a child with a genetic disorder and explore available options.
The Carrier Screening Process
- Consultation and Education: Dr. Chavkin and/or a genetic counselor will discuss the benefits and limitations of genetic carrier screening and help you decide which screening panel is right for you and your partner.
- Sample Collection: A blood or saliva sample will be collected at our clinic in Beverly Hills
- Genetic Analysis: The sample will be sent to a specialized genetic testing laboratory for analysis.
- Results and Counseling: Once the results are received, a genetic counselor will explain your carrier status and discuss any potential risks. If both you and your partner are carriers for the same condition, Dr. Chavkin will discuss your treatment options with you, which may include:
- Natural conception with awareness of the risks.
- Pre-implantation Genetic Testing for Monogenic disorders (PGT-M) during IVF
- Using donor sperm or egg.
- Prenatal genetic testing during pregnancy.
Who Should Consider Carrier Screening?
Carrier screening is recommended for:
- Any Individual planning a pregnancy.
Why Choose Dr. Diana Chavkin for Genetic Carrier Screening in Beverly Hills?
- Comprehensive Genetic Counseling: We provide thorough counseling to help you understand the implications of carrier screening results and your reproductive options.
- Access to Advanced Genetic Testing: We partner with the most advanced and reputable genetic testing laboratories offering comprehensive and accurate carrier screening panels.
- Personalized Approach: Dr. Chavkin will recommend the most appropriate carrier screening for you.
- Integration with Fertility Treatment: Genetic carrier screening can be seamlessly integrated into your fertility evaluation and treatment plan.
- Empowering Informed Decisions: Our goal is to provide you with the information you need to make informed decisions about your family building.
Frequently asked questions (faqs)
Do I need carrier screening if I have no family history of genetic disorders?
Yes, you can still be a carrier even if you have no family history. Many people are unaware that they carry a genetic mutation.
What happens if I am a carrier for a genetic disorder?
Being a carrier usually does not affect your health. However, if your partner is also a carrier for the same disorder, there is a risk of having a child with that condition. Embryos can be screened for the condition if we know what to look for at the outset.
How accurate is carrier screening?
Carrier screening is highly accurate, but no genetic test is 100% accurate.
How long does it take to get carrier screening results?
Results typically take 2-3 weeks, depending on the laboratory and the specific screening panel.
Will my insurance cover carrier screening?
Coverage for carrier screening varies by insurance plan. Check with your insurance provider to understand your benefits.
What if my partner and I are both carriers for the same disorder?
You have several options, including natural conception with awareness of the risks, PGT-M during IVF, using donor sperm or egg, or prenatal genetic testing. Dr. Chavkin will discuss these options with you.