Understanding Your Genetic Screening Options Before IVF

Posted on December 26, 2024 by Inception Fertility

When beginning an in vitro fertilization (IVF) journey at Tennessee Fertility Institute, genetic screening is one of the most valuable tools available to help ensure the healthiest possible outcome for aspiring parents and their future child. Genetic screening options can provide insight into potential health risks and help fertility specialists make more informed decisions about embryo selection. In this blog post, we’ll break down the main types of genetic screening, their benefits, and how to determine if they might be right for you.

Why Consider Genetic Screening During IVF?

Genetic screening can help identify chromosomal abnormalities or specific inherited conditions that might affect an embryo's development or the health of a future child. By screening embryos before they are implanted, our team of fertility specialists can better select embryos with the highest chances of resulting in a successful pregnancy, reducing the likelihood of miscarriage and genetic disorders. This can be especially beneficial for individuals or couples with a known genetic condition in the family, recurrent pregnancy loss, or advanced maternal age.

Types of Genetic Screening Options

1. Preimplantation Genetic Testing for Aneuploidies (PGT-A)

PGT-A, formerly known as PGS (Preimplantation Genetic Screening), examines embryos for aneuploidies, or abnormal numbers of chromosomes. Chromosomal abnormalities can lead to conditions like Down syndrome or Edwards syndrome, and they’re also a common cause of miscarriage.

Who might benefit from PGT-A?
PGT-A is often recommended for couples where one or both partners are older, or if they have experienced multiple miscarriages. By screening for chromosomal abnormalities, PGT-A increases the likelihood of transferring an embryo with a normal chromosomal profile, supporting a healthier pregnancy.

2. Preimplantation Genetic Testing for Monogenic Disorders (PGT-M)

For individuals or couples with a known inherited genetic disorder, PGT-M (formerly PGD, or Preimplantation Genetic Diagnosis) screens embryos for specific, single-gene mutations that could lead to a genetic condition, like cystic fibrosis, Tay-Sachs disease, or sickle cell anemia. This test focuses on identifying embryos that do not carry the specific condition of concern.

Who might benefit from PGT-M?
PGT-M is ideal for families with a history of certain genetic disorders who want to avoid passing on the condition to their children. The testing process allows fertility specialists to select embryos that are free from the targeted genetic mutations.

3. Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR)

In cases where one or both partners have a structural rearrangement of their chromosomes, such as translocations or inversions, PGT-SR can help identify embryos with a balanced chromosomal structure. Chromosomal rearrangements can sometimes lead to infertility, miscarriage, or genetic disorders, so screening for this early on can be essential.

Who might benefit from PGT-SR?
Individuals or couples with known chromosomal structural abnormalities benefit from PGT-SR, as it helps reduce the risk of transferring embryos that may be incompatible with healthy development.

How is Genetic Screening Performed?

Genetic testing typically takes place after eggs are retrieved and fertilized during the IVF process. A few cells are biopsied from each embryo at the blastocyst stage (around day 5-7), which is minimally invasive and carries a very low risk of harm to the embryo (only about a 3% chance). These cells are then sent to a specialized lab for genetic analysis. After results are available, your fertility specialist will review the findings and discuss the best options with you.

Is Genetic Screening Right for You?

Genetic screening can offer significant benefits. Here are a few factors to consider with your fertility specialist when deciding if genetic screening aligns with your fertility goals:

  • Family History of Genetic Conditions: If you or your partner have a known genetic disorder in the family, screening can help ensure a future child doesn’t inherit that condition.

  • Maternal Age: As maternal age increases, so does the risk of chromosomal abnormalities. Genetic screening can provide an added layer of confidence for older parents.

  • Recurrent Pregnancy Loss: Couples who have experienced multiple miscarriages may benefit from PGT-A to screen for chromosomal issues that could lead to pregnancy loss.

  • Personal Preferences: Some individuals prefer to limit genetic testing, and it’s essential to discuss your values and preferences with your specialist to make an informed decision.

Potential Limitations of Genetic Screening

While genetic screening offers many benefits, it’s not a guarantee of a successful pregnancy or a completely risk-free future for the child. Additionally, not all genetic conditions can be screened for at the embryo stage, such as autism, and there is still a chance that an embryo with a normal chromosomal profile may not implant successfully. Your fertility team can provide a realistic outlook on how genetic screening fits into your specific treatment plan.

Conclusion

Genetic screening is a powerful resource that allows families to embark on their fertility journey with added peace of mind. Whether you’re concerned about age-related chromosomal abnormalities, specific genetic conditions, or just want to explore every option, our clinic is here to support you in making the best decision for your family’s future.

If you have questions about genetic screening or are interested in learning more, contact us today to set up a consultation with one of our fertility specialists. We’re here to guide you through each step of your journey!

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