Gentic Carrier screening
Genetic Carrier Screening
When you are pregnant or planning to become pregnant, you want everything to go right. While most babies are born healthy, with every pregnancy, there is a small chance of having a baby with a genetic disorder. Carrier screening provides specific information about your genes, your partner’s genes, and your potential risk for passing on an inherited disorder to your child.For people who know they are at an increased risk of passing on a specific genetic condition, PGT-M or preimplantation genetic testing for monogenic/single gene defects can be performed before pregnancy to reduce the risk of having an affected child greatly.
What is Genetic Carrier Screening?
At IHR, we are strong advocates of pre-conception genetic screening (also called carrier screening) to our patients as part of our routine pre-conception counseling. Its benefit to patients and their future children is immeasurable! At a minimum, every female patient is requested to complete genetic screening, through a blood test. To reduce costs, if not covered by insurance, we only ask for the male partner to be tested if the female’s test returns positive as a carrier for any genetic diseases. We test the male to ensure he is not a carrier of the same genetic diseases. If a genetic disease is found, the couple has the option to use in vitro fertilization (IVF) with preimplantation genetic testing for monogenic disorders (PTG-M) to avoid passing that disease onto their offspring. Couples who choose not to undergo pre-conception genetic screening are asked to sign a form declining testing.
Genetic screening tests gene mutations that fall into each of these three categories:
- Those mutations that are common in a certain ethnic group
- Recessive mutations (dominant genes often show symptoms and are typically known already)
- Those mutations that have some likelihood of causing serious disease in affected offspring. Even if you’re healthy and have never had a family member affected by these diseases, you could be a carrier of a genetic mutation(s), which can put your future children at risk. This makes screening all the more important.
The Potential Results
A positive result means that a disease-causing variant was found, and you are a carrier of one or more of the disorders tested. Being a carrier typically does not affect your own health; however, it does mean that there is an increased risk of having a child with that disorder. The next step is usually to test your partner. Genetic counselors are also available to discuss your specific risks and concerns.
A negative result means that no disease-causing variants were identified for any of the disorders tested. A negative test provides reassurance because the chance of you having a child with any of the tested disorders is reduced. However, no test can detect all carriers, so there is still a small chance, called a residual risk, of being a carrier. Genetic counselors are available to discuss your specific risks and concerns.
Preimplantation Genetic Testing (PGT)
What is Preimplantation Genetic Testing (PGT)?
Preimplantation genetic diagnosis (PGT) is an advanced genetic test performed before pregnancy. Embryos obtained by IVF are tested for chromosomal abnormalities or a known genetic mutation. Only the unaffected ones are transferred into the uterus for the woman to conceive a healthy baby. We can look for things like cystic fibrosis, thalassemia, Tay-Sachs disease, sickle cell disease, and over two hundred other genetic diseases.
Genetic Counseling is provided by our strategic partners at Igenomix and Sema 4.
Do you have any other questions about PGT? Connect With Us.
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