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INFERTILITY

Pros & Cons: Genetic Testing for Infertility

Everyone who is deciding whether to have genetic testing for infertility should first ask:

  • "Why am I getting tested?"
  • "What will this test mean for me?"
  • "What are the benefits of testing?"
  • "Are there any implications I should consider?"

Pros

Testing is a very personal decision. Here are just some of the reasons people choose genetic testing for infertility:

  • You were told you are infertile by a doctor, but standard physical and laboratory tests have failed to find a cause.
  • You are already undergoing treatment for infertility, but it seems not to be working.
  • You are just curious about your fertility because attempts to conceive have not resulted in a pregnancy.
  • You are attempting to start a family at a late age and want to quickly discover if you might encounter fertility problems.
  • You hope to choose the infertility treatment with the best chance of working for you. For example:
    • If a woman carries a Fragile X chromosome variation, it may be important to act quickly or consider egg donation, since there is an increased risk of premature ovarian dysfunction.
    • If chromosome abnormalities are found, you may choose to do embryo selection to increase the odds of having a successful and healthy pregnancy.
  • You would wish to learn about options that may be available for preconception and prenatal diagnosis, if you were to have a positive test result.
  • You are seeking hope that continued efforts at getting pregnant will be successful.
  • You want to confirm that it is time to pursue alternative options such as egg or sperm donation, surrogacy, or adoption.
  • You experienced infertility in the past and want to know why.
  • Having knowledge of a mutation means you can monitor your pregnancy and screen for it.

Cons

Here are some reasons why people decide not to have genetic testing for infertility:

  • The tests offered may not provide an absolute "yes" or "no" answer in all cases. A positive result may indicate that genetics is just one of multiple factors responsible for your infertility, and a negative result does not necessarily mean that there is not a different, unknown genetic cause.
  • Knowing the cause of your infertility may not always increase your chances of achieving a successful pregnancy.
  • You fear you would feel guilty or angry that you have a genetic condition and are concerned about how you will react to your test results.
  • You worry that a positive test result will change your self-image or cause your loved ones to treat you differently.
  • You are concerned about genetic discrimination when obtaining medical or life insurance or employment. (Testing through DNA Direct is an option for people with this concern, since our service is confidential and anonymous.)
  • You are concerned about the cost of testing and whether your insurance would cover the cost.
  • You are concerned that you may find out information about yourself that has implications beyond fertility. For example:
    • A positive test for the Fragile X chromosome may put you at risk of experiencing early menopause.
    • A positive test for the cystic fibrosis gene may mean that you have a mild form of cystic fibrosis even if you do not have typical signs and symptoms of the disease.
    • A positive chromosome analysis may uncover a genetic change that runs in the family and can affect other relatives.
    • A positive test may mean that other family members carry these genetic changes.
    • A positive test may indicate a genetic change that can be passed on to future offspring.
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