TTC With a Genetic Disease
Genetic Testing for People Who Are TTC With a Genetic Disease
Trying to conceive (TTC) with a known genetic disease can leave hopeful parents uneasy about their future children’s health. Thankfully, advanced genetic testing can now effectively break the chain of inherited genetic disorders in families. If you are considering TTC with a genetic disease that runs in your family, our New England fertility specialists can help you protect your future children’s health.
PGT-M, or preimplantation genetic testing for monogenic disorders or single-gene defects, is a smart choice for people who know they are carriers of a specific genetic condition. PGT-M is also highly recommended for people who are affected by and living with a genetic disease.
What is PGT-M?
By choosing IVF with PGT-M, people who are TTC with a genetic disease can ensure that their future children will not be affected by a known genetic disorder, and will also not be carriers of the disorder who could pass it on through future generations.
PGT-M is a type of preimplantation genetic testing performed on embryos created through IVF. To perform the test, our skilled embryologists safely remove a small sample of cells from each embryo and send them to a specialized genetics laboratory. Because these cells are removed from the part of the embryo that would become the placenta – not the part that would become the fetus – the embryos are not damaged in the process. All of the embryos are cryopreserved and stored in the lab while we await the test results.
At the genetics laboratory, the sample cells’ DNA is examined, with genetic experts looking specifically at the single gene that is tied to the known genetic disorder. Any embryos that are found to be affected by the disorder are noted, so that only those embryos free of the disorder can be chosen for transfer to the hopeful mother’s uterus. Typically, just one embryo is transferred at a time, so choosing PGT-M can greatly increase the chances of IVF success and reduce the risk of miscarriage.
PGT-M can test for hundreds of single-gene conditions, including both rare and common disorders.
- Cystic fibrosis
- Hemophilia
- Sickle cell disease
- Tay-Sachs disease
- Congenital deafness
- Duchenne muscular dystrophy
- Spinal muscular atrophy
- Familial hypercholesterolemia
- Polycystic kidney disease
- Neurofibromatosis
- Huntington’s disease
- And many other genetic conditions
At the same time, PGT-M can identify each embryo’s sex and rule out any chromosome-related disorders, such as Down syndrome.
How to know if you are a carrier
A person can be a carrier of a genetic disorder if it runs in his or her family, even if that person has no symptoms of the disorder. Many people discover their carrier status through preconception carrier screening, which checks both partners for common genetic disorders they could pass on to their children.
Our New England fertility specialists recommend carrier screening for all people who are trying to conceive, and especially for those who are:
- TTC with a genetic disease
- Struggling to conceive
- Affected by unexplained infertility
- Related to family members affected by genetic illnesses
Because genetic disorders are complex and often involve the combination of DNA from both the male and female partner, we recommend carrier screening for both partners.
Learn more about options for TTC with a genetic disease
If you are TTC with a genetic disease that affects you directly or runs in your family, PGT-M gives you the power to ensure that your children and grandchildren will have the best possible chance to live healthy lives. Our experienced team of New England fertility specialists welcomes you to visit us for a consultation to discuss your genetic testing options. Contact us to make an appointment to learn more.
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