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  • Talking to Your Doctor About Chromosomal Abnormalities

    You have a unique medical history. Therefore, it is essential to talk with your doctor about your personal risk factors and/or experience with chromosomal abnormalities. By talking openly and regularly with your doctor, you can make the best decisions for you and your family.

    General Tips for Gathering Information

    Here are some tips that will make it easier for you to talk to your doctor:
    • Bring someone else with you. It helps to have another person hear what is said and think of questions to ask.
    • Write out your question ahead of time so you don’t forget them.
    • Write down the answers you get, and make sure you understand what you are hearing. Ask for clarification, if necessary.
    • Don’t be afraid to ask your questions or ask where you can find more information about specific topics. You have a right to know.

    Genetic Counseling

    You or your partner’s family history may lead you to meeting with a genetic counselor. Genetic counselors have specialized training and experience within the area of genetics. Additionally, they are qualified in counseling people who are dealing with highly sensitive and emotional issues.
    As counselors, their job is to inform you about possible birth defects or genetic disorders that may affect your child. Training in genetics allows these specialists to help you make sense of detailed medical jargon. They will identify any risk factors you or your partner may have and the likelihood of a birth defect or genetic disorder occurring. The counselors will present you with possible outcome scenarios that can help you understand and better decide for yourself what you should do.
    At your first visit, you will be asked about your medical history as well as the medical background of your family. The more information that you can provide, the better your counselor will be able to identify inheritance patterns and assess your risk factors for certain genetic problems.
    Sometimes further testing may be necessary. Your genetic counselor will arrange for this. Once your chances of having a child with a possible genetic disorder have been properly assessed, your counselor will provide you with the resources you need to decide what you should do next. If you have a very high risk, your options include choosing to adopt or conceiving a child through in vitro fertilization and implanting an embryo that has been determined to be free of genetic problems through preimplantation genetic diagnosis.
    Don't hesitate to ask your genetic counselor any questions you might have. You will be presented with a lot of information so be sure to ask for brochures or even a written summary of the meeting to use as a resource.

    Before Your Appointment

    It is important to gather as much information on your family's medical history as you can.
    • Talk to your parents and siblings about any medical problems they have had.
    • Extend your information gathering to grandparents, aunts, uncles, and cousins.
    • Pay particular attention to the following diseases and disorders:
    • In addition to recording the disease, note the age the problem occurred as well as any relevant health information. For example, was a family member a heavy smoker? Was he physically active or overweight? Additionally, certain genetic problems are more dominant among particular ethnic groups, so be sure to include this information as well.


    Chromosomal abnormalities. March of Dimes website. Available at: http://www.marchofdimes.com/professionals/14332%5F1209.asp . Accessed September 5, 2005.

    FAQs about genetic counselors and the NSGC. The National Society of Genetic Counselors website. Available at: http://www.nsgc.org/about/index.asp . Accessed September 7, 2005.

    Revision Information

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