If you are planning on getting pregnant in the near future, you may wish to consider genetic testing for you and your partner. Our office partners with Counsyl to provide Family Prep Screening, an affordable test that can assess a couples’ DNA for heritable diseases with 99.9% accuracy.
Children inherit identifiable characteristics from their parents: eye color, nose shape, hair texture, and countless others. They can also inherit genetic diseases, even if neither parent appears to have symptoms. While it’s often easy to predict what facial features a child may inherit from her parents, many genetic diseases are hidden in our genetic code.
When a person tests positive for the genes of a particular disease, but does not actually have the disease, that person is said to be a carrier. If two carriers of the same disease have a child together, that child has a 25% chance of developing the disease.
Counsyl Family Prep Screen can help parents and future parents detect whether they are carriers of genetic diseases before they get pregnant, so that they can better plan for the future of their family.
How Does Family Prep Screen Work?
The Family Prep Screen from Counsyl is a single test created from a combination of over 100 separate DNA tests. Your doctor will take only a small blood sample from you and your partner and send the samples to the lab. In less than 2 weeks, you will receive both of your results in a single report.
The Counsyl Family Prep Screen is an affordable DNA test and is covered by most major health insurers.
Why Should My Partner and I Get Genetic Testing?
Knowing whether you and your partner are carriers for a genetic disease can help you plan for a healthy family. The Family Prep Screen can check for over 100 heritable conditions, some of which can be treated if caught early while others require lifelong management.
Some genetic conditions, like Phenylketonuria and Wilson disease, have a good prognosis for recovery if treated early and aggressively. Genetic testing can help your family doctor get out in front of the disease if your child is diagnosed.
You may need to plan your family’s future if you and your partner are both carriers of genetic conditions like Fragile-X syndrome or Neimann-Pick disease, which result in moderate to severe intellectual disabilities.
Shortened life expectancy
Some rare genetic conditions result in shorter life expectancy and chronic disability, and may require lifelong intensive or professional care. Cystic fibrosis and Bloom syndrome are examples.
Limited or no treatment
Other genetic conditions have very little or no available treatment options, such as Canavan disease and spinal muscular atrophy.
What Can be Done if We Are Carriers?
If you and your partner discover through genetic testing that you are both carriers for the same genetic disease before pregnancy or early into pregnancy, then you may wish to consult with your doctor to discuss your options and make the right decisions for your family. You have a few different paths you could take.
Consult with a specialist
If the condition you carry can be treated, find a specialist who can help evaluate and treat your baby right after delivery.
Consider In Vitro Fertilization (IVF)
Some couples can minimize their risk of passing on harmful genes by working with a fertility specialist. With in-vitro fertilization, you may use an egg or sperm from a donor or use preimplantation genetic diagnosis. This is a technique in which a specialist grows several embryos in the lab and then implants the one(s) with the healthiest genes in your womb.
Perform a prenatal diagnosis
If you are already pregnant, your doctor can perform an amniocentesis or chorionic villus sampling to check for the presence of genetic diseases.
Explore other ways to start a family
You might consider adoption or using an egg or sperm donor.
If you want to explore if genetic testing may be a right option for you or simply discuss establishing care, please click here to make an appointment online or call us at (844) 863- 6700.