The nurse from the perinatologist called this morning. Baby Ellison tested negative for:
1. Neural Tube defects
2. Down Syndrome
3. Trisomy 18.
Next week we have another ultrasound and a meeting with a genetic counselor at the perinatologist's office.
This is a brief overview of what happens with a genetic counselor.
To assess your risk for an inherited condition, a genetic counselor needs to know medical information about you and your family. In some cases, you may need to provide this information when the appointment is made. The genetic counselor will often take a more detailed family medical history and use this information to generate a family tree, which shows all of your relatives, their relationship to you, and diseases they had. If you do have an increased risk, the counselor will make sure that you understand the basic genetic concepts that affect how the disease runs in families, educate you about the disease itself, and explain the level of risk for you and your family.
After an initial appointment, the genetic counselor may need more information in order to make a final risk assessment. For example, they may need to know results of a pathology report on a relative's tumor, or the exact age when a relative developed a disease. They may also need to review medical records for a relative to clarify a diagnosis.
Once the counselor has established your risk, he or she may discuss options — such as genetic tests if they are available — that may help clarify whether you or members of your family carry a genetic mutation that increases your risk for a particular disease. If there is an appropriate test, the counselor will discuss in detail what information it can give, the risks, benefits, limitations, and other possible consequences of being tested. They also provide detailed follow-up to be sure that you understand what the results mean. Even if genetic testing is not appropriate for your situation, the counselor will help you understand other options to reduce your risk (such as having ovaries removed in women at risk for ovarian cancer) or lifestyle changes that may help your situation. In many cases, the medical team will be involved in designing a plan of action for continued medical management.
The genetic counseling session will usually last at least an hour if not longer. Although some people may only require one session, others will require several sessions if they are pursuing genetic testing or for additional follow-up.
If any of our family members reading this know of any useful information for us for our appointment, please email me at lauren.ellison@yahoo.com
Thanks everyone!
xo
10 years ago
