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Comprehensive Guide to Preimplantation Genetic Testing: FAQs and Insights

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Preimplantation Genetic Testing - Frequently Asked Questions

  1. What is Preimplantation Genetic Testing PGT?

    PGT, also known as pre-embryonic genetic testing, involves screening embryos created through in vitro fertilization IVF to determine their genetic health before they are implanted into the uterus.

  2. Are there different types of PGT?

    Yes, there are several types including:

    • PGT-A Aneuploidy Testing: Screening for chromosomal abnormalities like aneuploidy.

    • PGT-M Monogenic Disorders Testing: Detecting specific genetic conditions related to single-gene mutations.

    • PGT-SR Structural Rearrangement Testing: Identifying inherited chromosomal structural changes.

  3. Who should consider PGT for their embryos?

    Individuals or couples who are:

    • Older than typical reproductive age

    • Have a history of recurrent miscarriages, stillbirths, or genetic disorders in family members.

  4. How is PGT performed?

    typically involves:

    • IVF to produce multiple embryos.

    • Genetic testing of the cells from these embryos while they are in the lab stage pre-implantation.

  5. What types of samples are needed for PGT?

    Cells from the embryo are used, usually biopsied during the pre-embryonic stage.

  6. Can I do PGT if using sperm or eggs from a non-directed donor?

    Yes, donors undergo genetic screening before their donation to ensure they have no known genetic disorders.

  7. Are there risks associated with the PGT process for embryos?

    Minor risks include reduced embryo quality due to biopsy and potential flure in growing post-testing.

  8. When do I need to decide on PGT?

    Typically, before or concurrently with IVF planning.

  9. I have no family history of chromosome conditions - should I still consider PGT-A for aneuploidy screening?

    Yes, PGT-A is beneficial even if you don’t carry a known genetic disorder; it can help prevent common chromosomal abnormalities contributing to miscarriages and pregnancy loss.

  10. What types of chromosome abnormalities does PGT-A detect?

    Commonly screens for:

    • Trisomies like trisomy 21 or Down syndrome

    • Monosomies

    • Other chromosomal disorders

  11. Chances of my embryos having abnormal chromosomes with PGT-A?

    The risk deps on age, but typically declines in older women.

  12. Is the risk for chromosome abnormalities related to age?

    Yes, as a woman ages, her eggs become more likely to have chromosomal issues contributing to miscarriage rates.

  13. What is moscism?

    Moscism occurs when an individual has two or more genetically distinct cell lines in their body.

  14. Options for embryos with mosc PGT-A results?

    Consult with your fertility specialist, but options might include:

    • Selecting embryos without the moscism.

    • Further genetic testing if needed.

  15. Benefits of PGT-A?

    Includes reducing the risk of miscarriage and pregnancies resulting in live births from aneuploid embryos.

  16. Risks or downsides to PGT-A?

    Potential for reduced embryo quality, moscism issues, cost.

  17. Genetic condition with family history - can PGT detect that?

    While not typically designed to detect all complex genetic disorders, it may help if the specific mutation is known and targeted.

  18. Information needed for PGT-M or PGT-SR?

    Requires detled medical history and DNA analysis for inherited conditions.

  19. How accurate are PGT results?

    Accuracy varies based on the technique used but generally high; prenatal diagnosis remns necessary post-implantation.

  20. Normal PGT eliminates genetic condition risk?

    Not fully, as it doesn't cover all possible genetic abnormalities or future mutations.

  21. Other genetic testing options if not suitable for PGT?

    Options may include carrier screening, newborn screenings, and prenatal diagnosis deping on specific concerns.

  22. Cost of PGT and insurance coverage?

    Costs vary widely; check with your insurer for coverage detls.

  23. PGT results turnaround time?

    Results are typically avlable within 1-2 weeks following the testing process.

  24. Receiving PGT results?

    Via a personal consultation, usually accompanied by detled report documentation.

  25. Meaning of PGT-A test results?

    Described through a report that outlines chromosomal status for each embryo tested.

  26. PGT-M or PGT-SR outcomes explned?

    Results vary based on the genetic disorder targeted; typically positive affected or negative not affected.

  27. Normal PGT doesn't guarantee success?

    Even with normal results, other factors affect IVF and pregnancy success.

  28. Do I need genetic counseling?

    Strongly recommed to help interpret test results, discuss implications, and make informed decisions about family planning.

For more information, contact our Washington University Fertility Genetic Counselor at 314 286-2411 for personalized guidance.

Explore treatments services including:

Visit our website for comprehensive information on fertility treatments and genetic counseling services.

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Preimplantation Genetic Testing Overview Choosing PGT for Embryos Benefits of PGT A Screening Risk Factors for Chromosome Abnormalities Genetic Disorders with PGT M PGT SR Understanding Mosaicism in PGT Results