Talking to Your Doctor About Chromosomal Abnormalities
You have your own health history. Talk with your doctor about your risk factors and background with chromosomal abnormalities. By talking openly and often with your doctor, you can make the best choices for you and your family.
General Tips for Getting Information
Here are some tips that will make it simpler for you to talk to your doctor:
- Bring someone else with you. It helps to have one more person hear what is said and think of questions to ask.
- Write your questions so you don’t forget them.
- Write down the answers you get and make sure you grasp what you are hearing. Ask for help, if needed.
- Don’t be afraid to ask your questions or ask where you can find more info. You have a right to know.
You or your partner’s family history may lead you to meeting with a genetic counselor. They have specialized training and background. Also, they can help people who are dealing with hard, sensitive issues.
Their job is to let you know about likely birth defects or genetic problems that may affect your child. Their training lets them help you make sense of health jargon. They will find any risk factors you or your partner may have and the chance of a birth defect or genetic problem occurring. They will give you situations that can help you learn and better decide for yourself what you should do.
At your first visit, you will be asked about your health and that of your family. The more information that you can give, the better inheritance patterns risk factors can be judged.
Sometimes further testing may be needed. Your counselor will arrange for this. When your chances of having a child with a genetic disorder have been found, you will be given resources you need to decide what you should do next. If you have a high risk, you may choose to adopt or have a child through in vitro fertilization and implanting an embryo that has been found to be free of problems through preimplantation genetic diagnosis.
Ask your counselor any questions you might have. You will be given a lot of information, so be sure to ask for brochures or even a write up of the meeting.
Before Your Appointment
Gather as much information on your family's health history as you can.
- Talk to your parents, brothers, and sisters about any health problems they have had.
- Ask grandparents, aunts, uncles, and cousins.
Pay attention to:
- Known genetic problems
- Metabolic or mitochondrial disorders
- Recurrent miscarriages or death in infancy
- Heart defects
- Intellectual disability
- Asthma, allergies, or atopic dermatitis
- Heart disease, such as heart disease that is present at birth
- High blood pressure
- Kidney disease
- Loss of hearing or vision at a young age
- Mental illness, such as depression, bipolar disorder, or schizophrenia
- Learning problems
- Birth defects, such as spina bifida
Chromosome abnormalities. National Human Genome Research Institute website. Available at: http://www.genome.gov/11508982. Updated January 6, 2016. Accessed July 30, 2018.
Last reviewed May 2018 by EBSCO Medical Review Board Kathleen A. Barry, MD Last Updated: 7/31/2018