Genetic Counseling for Turner Syndrome

Genetic counseling is more than just an option when faced with a Turner syndrome diagnosis, it is an essential part of the diagnosis, and testing process. No one should undergo screening and testing for Turner syndrome, without first initiating the process of genetic counseling.

What is genetic counseling?

Genetic counseling what to expect

Genetic counseling is an important service, provided by genetic counselors. Genetic counselors are both medical professionals and therapists, and in these roles, they are the bridge between the medical world, and families and patients facing a rare disease diagnosis.

Diagnosing a rare disease can be a long and difficult process. It may involve different types of genetic testing and screening, and it may involve many medical appointments and visits, to receive an accurate diagnosis. In the past, some patients have waited anywhere from 4-8 years to arrive at an accurate diagnosis.

Genetic counseling and Turner syndrome

Understanding who genetic counseling is recommended for

• If your child, specifically your daughter, shows any symptoms of the syndrome either at birth, in childhood, or as is the case in some instances, during puberty
• If prenatal screening indicates a possible risk for Turner syndrome in an unborn child

Genetic counseling and Turner syndrome – what can it tell us

It can tell us the following crucial information about this rare disease:

• That it is caused randomly, during the process of reproduction, and occurs when a female child is born with a missing or partially missing X chromosome. It has no inherited cause, and neither parent’s genetic makeup is responsible for causing it. 
• That the genetic cause of Turner syndrome is random, and future siblings are not at higher risk for developing the syndrome. 
• Symptoms of the syndrome include- short stature, heart defects, and a failure of the ovaries to develop properly.
• Symptoms may vary in their severity between individuals. Some girls’ symptoms may not become obvious until puberty when the failure of their ovaries to develop is noticed.
• That there are support groups available for those living with Turner syndrome.

Genetic counseling and Turner syndrome can also 

• Explain the testing options for those facing a rare disease diagnosis, and the right type of testing to diagnose Turner syndrome. 
• Help families to understand if their daughter’s symptoms are those of Turner syndrome, and what the next steps in the diagnosis process would be. 
• Connect the various medical teams responsible for the care of a girl with Turner syndrome: this might include cardiologists and other specialists. 

Genetic counseling and Turner syndrome – where to start

If you or your daughter is about to undergo genetic testing for Turner syndrome, or is showing any symptoms of this rare disease, it is important to make an initial consultation with a genetic counselor as soon as you can. This will help you to better understand your child’s symptoms, what it might mean in terms of a Turner diagnosis, and what your next steps in the process are. 

Accessing quality genetic counseling can be challenging. Not everyone has a network of available genetic counselors in their area, and sometimes finding one can be difficult. In this case, online genetic counseling is a new and advanced solution for all those who need it.

Online genetic counseling is easy to access, it can be accessed through any connected device, and it puts the process fully in the hands of the patient and their family. Online, virtual counseling services, connect seamlessly to thousands of trusted and experienced genetic counselors, located all over the world. Wherever you are located, whatever the diagnosis you might be facing, online genetic counseling means you won’t undergo it alone. The key to accurate, advanced genetic counseling, is accessibility for all, whether you are facing a Turner syndrome diagnosis or a different one.

Genetic counseling is more than just an option for Turner syndrome, it is an essential part of the diagnosis process, from initial consultation to diagnosis, and beyond. In addition to the benefits of online genetic counseling, parents can take proactive steps by using the Child Development Checker app to assess their child’s developmental and genetic concerns. This app leverages advanced genetic analysis to provide early and accurate insights, which are crucial for timely interventions. Furthermore, the “Connect to an Expert” feature ensures that families have access to experienced genetic professionals for personalized guidance, no matter where they are located.