Navigating Genetic Testing Options and Choosing the Right Path for You

Genetic testing is a powerful tool in fertility treatments, offering numerous benefits and insights. There are various reasons to consider genetic testing, and multiple types of tests can be performed at different stages of the fertility process.

While some patients opt for comprehensive testing, your doctor can help determine which tests are best based on your medical history, enabling you to make an informed decision before proceeding.

Why Do Genetic Testing Before Trying to Conceive?

Genes, composed of DNA, form our chromosomes and dictate our genetic makeup and the traits we pass on to our children. Genetic testing before conception involves analyzing a blood, swab, or tissue sample to determine if you or your partner carry genetic disorders that could affect your child.

This information can provide peace of mind if you are not a carrier or awareness of potential genetic conditions if you are. It’s important to note that carriers do not always pass on these specific genes.

Common conditions tested for include:

• Cystic fibrosis
• Fragile X syndrome
• Sickle cell disease
• Tay-Sachs disease.

If you and/or your partner are carriers, you may consider fetal testing during pregnancy or IVF with donor sperm and/or eggs. Ultimately, genetic testing aims to empower you with the knowledge to make the best decision for your family. It is not a mandatory part of family planning but can be a valuable tool for many.

Why Do Genetic Testing of the Fetus?

Prenatal genetic testing is performed during the first and second trimesters of pregnancy. It involves a blood sample from the mother and an ultrasound called a nuchal translucency screening. The goal is to determine if the fetus has genetic disorders such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), or neural tube defects (NTDs).

Additional ultrasounds can detect physical deformities in the brain, heart, spine, and other body parts. These tests are typically done between ten and twenty-two weeks of pregnancy.

While these tests are highly accurate in assessing the risk of genetic disorders, further diagnostic testing may be required to confirm a condition’s presence. The decision to undergo fetal testing is personal.

Some parents choose not to test because they will continue the pregnancy regardless of the outcome. Others prefer testing to prepare for a child with a genetic condition, and some may decide to end a pregnancy if severe genetic issues are detected. Your reasons for genetic testing are entirely your own, and you are empowered to make the decision that feels right for you.

Why Do Genetic Testing When Undergoing IVF?

During the IVF process, one major option is screening embryos for genetic conditions, known as preimplantation genetic testing (PGT). This occurs after eggs and sperm are combined in the lab to create embryos. These embryos are then tested for genetic conditions before implantation.

Several types of genetic testing are involved in PGT:

• PGT-A (Preimplantation Genetic Testing for Aneuploidies): Screens for an abnormal number of chromosomes, which can lead to conditions like Turner syndrome and Klinefelter syndrome.
• PGT-M (Preimplantation Genetic Testing for Monogenic Disorders): Screens for monogenetic diseases caused by a single gene mutation, such as cystic fibrosis, sickle cell anemia, and Huntington’s disease.
• PGT-SR (Preimplantation Genetic Testing for Structural Rearrangements): Screens for structural chromosome misalignments, which can result in conditions like Down syndrome.

Adding genetic testing to your IVF treatment can increase the likelihood of achieving pregnancy and reduce the risk of miscarriage due to genetic abnormalities. This testing provides peace of mind and helps ensure the highest chance of a healthy pregnancy.

How Genetic Testing is Done

Carrier Screening

Carrier screening involves taking a blood or saliva sample to test for specific genetic disorders. This test is usually recommended for individuals or couples with a family history of genetic conditions or those from certain ethnic backgrounds with higher risks for specific diseases. The test identifies whether you carry certain genetic conditions that could be passed on to your children.

Preimplantation Genetic Testing (PGT)

During IVF, after the eggs are fertilized and embryos are formed, a few cells are biopsied from each embryo. These cells are tested for genetic abnormalities before the embryo is implanted in the uterus. PGT can significantly increase the chances of a successful pregnancy and reduce the risk of genetic disorders.

Prenatal Genetic Testing

Technology has advanced significantly. Due to these advancements, doctors are now able to perform prenatal genetic testing. Prenatal genetic testing includes several methods:

• Non-Invasive Prenatal Testing (NIPT): A blood test that analyzes fetal DNA in the mother’s blood to screen for chromosomal abnormalities.
• Chorionic Villus Sampling (CVS): A test performed between 10 and 13 weeks of pregnancy where a small sample of cells from the placenta is taken to test for genetic disorders.
• Amniocentesis: Usually performed between 15 and 20 weeks of pregnancy, this test involves taking a sample of the amniotic fluid surrounding the fetus to test for genetic and chromosomal conditions.

Making Informed Decisions

Genetic testing offers valuable insights but also comes with emotional and ethical considerations. It’s important to discuss your options with a genetic counselor or healthcare provider to understand the benefits, risks, and implications of each test. Your healthcare team can provide guidance based on your medical history, family history, and personal values.

Support and Resources

Navigating genetic testing can be complex, but numerous resources are available to help you make informed decisions. At Pacific NW Fertility, we are committed to supporting you through every step of the process. Our experienced team can help you understand your options and make decisions that align with your values and goals.

Schedule a Consultation

If you’re ready to explore genetic testing options, regardless of where you are in the family planning process, Pacific NW Fertility is here to support you. Schedule an initial consultation today to discuss your needs and begin your journey towards a healthy and informed pregnancy.