Genetic carrier screening for healthier babies
Carriers of inherited genetic disorders often have no symptoms of disease, so they don’t know they are at risk for passing a condition down to their children. This is why the American College of Obstetricians and Gynecologists, along with our Connecticut fertility specialist, Andrew Levi MD, recommend genetic carrier screening for anyone who wants to become pregnant. This type of genetic testing is especially important for those who want to have a baby, but are aware of genetic illness that affects them or a family member.
How is genetic carrier screening done?
For the patient, the testing process starts with a blood draw. Your blood sample will be sent to a specialized genetics laboratory, where cells will be amplified and analyzed by skilled geneticists.
This screening looks for mutated genes associated with autosomal recessive conditions. Because a baby would inherit two copies of each gene – one from mom and one from dad – the lab is looking for mutated copies of the same gene in both parents. When just one parent is a carrier of a mutated gene, their child won’t be affected by the disease, but has a 50% chance of also being a carrier. If both parents are carriers, their child has a 25% chance of being affected by the associated genetic disorder.
After you provide your sample, your genetic carrier screening results will be ready within a few weeks. You’ll discuss the findings with a genetic counselor, as well as with Dr. Levi, so that you can plan your next steps with confidence.
Why is carrier screening recommended before pregnancy?
Genetic carrier screening can check for more than 175 genetic conditions, including some more common ones that can have lifelong effects on a child’s health and quality of life.
- Cystic fibrosis
- Fragile X syndrome
- Tay-Sachs disease
- Spinal muscular atrophy
- Thalassemia
- Sickle cell disease
- Duchenne muscular dystrophy
What we can and can’t learn from this type of genetic testing
This genetic test can’t diagnose infertility, pinpoint the cause of recurrent miscarriage, or reveal how many quality eggs you have left. However, it can help you understand your risk of inherited genetic disorders, so that you can plan accordingly.
If your test determines that you are not a carrier of specific mutated genes, you can move forward with confidence that your children will not be affected by those associated disorders.
If you and your partner are found to be at risk for passing on a genetic condition, it doesn’t mean you can’t have children together. Through IVF with genetic testing, Dr. Levi can help ensure that your future children will be born free of that genetic condition.
IVF is a highly effective fertility treatment that creates embryos outside of the body, which means that they can be tested for specific gene mutations. With preimplantation genetic testing, a few sample cells from each embryo can be sent to a genetics lab, so that only those embryos that are chromosomally normal are chosen for transfer to your uterus.
Contact us to learn more about carrier screening
If you are concerned about a genetic disease in your family, or if you just want to be sure to give your children the healthiest start in life, Dr. Levi would be happy to discuss genetic carrier screening with you. Contact us to schedule an appointment with our Connecticut fertility specialist to learn more.
