Genetic Testing
Ensuring Healthy Beginnings
We understand the significance of starting a family and the importance of ensuring a healthy beginning. Genetic testing plays a crucial role in providing you with the knowledge and options necessary to achieve a successful pregnancy. We offer a comprehensive range of genetic testing services, and our team is dedicated to guiding you through this important aspect of your fertility journey.
Understanding Your Testing Options
There are multiple testing options for intended parents to consider. Genetic testing, such as carrier screening or preimplantation genetic testing, provides valuable insights into your genetic makeup and its potential impact on your future family. Carrier screening examines prospective parents to determine if they carry a genetic disorder, while PGT-A is conducted to identify chromosomal abnormalities in embryos before they are implanted.
Ensure the healthiest start for your family by exploring our genetic testing options. Schedule a consultation with Pinnacle Fertility today to discuss how genetic testing can support your fertility journey.
Carrier Screening
Carrier screening checks if a person carries a genetic variation related to a specific disease. Carriers have one normal and one variant gene for that disease, inherited from each parent. This test is usually done when someone doesn't show any disease symptoms but could pass it on to their child if their partner also carries a harmful gene for the same disease.
- Carrier screening assesses the risk of passing on inherited genetic disorders to your child.
- We recommend routine pre-conception carrier screening for our patients as part of our comprehensive pre-conception counseling.
- Testing involves a blood test, typically for females, and if necessary, for their male partners.
- If a genetic disease is identified, couples can explore options such as in vitro fertilization (IVF) with preimplantation genetic testing for monogenic disorders (PGT-M) to reduce the risk of passing the disease to their offspring.
- Couples who opt not to undergo carrier screening will be asked to sign a form declining testing.
Genetic Carrier Screening Tests
Our genetic screening tests identify various types of gene mutations, including those:
- Common in certain ethnic groups.
- Associated with recessive mutations.
- With a likelihood of causing serious diseases in offspring.
These mutations may not show symptoms in carriers, making screening vital.
What do The results mean?
- Positive: A positive result means you are a carrier of one or more of the tested disorders. While it typically doesn't affect your health, it increases the risk of having a child with that disorder. Further testing for your partner is usually recommended.
- Negative: A negative result indicates no disease-causing variants were found. This reduces the chance of having a child with the tested disorders, but there's still a small residual risk.
What is Preimplantation Genetic Testing (PGT)?
Preimplantation Genetic Testing (PGT) is a test done on embryos before they are placed in the uterus during in vitro fertilization (IVF). It helps identify any genetic issues or abnormalities in the embryos, ensuring healthier pregnancies and reducing the risk of passing on genetic diseases to the baby.
When is PGT Used?
- PGT is employed when chromosome abnormalities are associated with implantation failure, pregnancy loss, or birth defects.
- It helps select the healthiest embryos for transfer, increasing the chances of a successful pregnancy.
There are four distinct types of PGT procedures
- PGT-A (formerly known as PGS): Screens for aneuploidy, offering a general assessment.
- PGT-M for Monogenic disorders: Searches for specific disorders carried by you and your partner.
- PGT-HLA for matching: Aims to find an HLA match for an affected child you may already have.
- PGT-SR (formerly translocations): Designed for cases where you or your partner have chromosomal translocations. This test identifies embryos with balanced translocations, which are compatible with life.
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