Getting a Diagnosis

Introduction: Diagnosis before birth / Diagnosis at birth or soon after / Diagnosis in the infant years / Teenage or adult-onset diagnosis / Undiagnosed conditions

For some people there may be known risk factors in their family, and you may be seeking advice on how to respond to that. Specialist services like obstetricians or the Genetics Service may be the best source of advice for you. We suggest you discuss with your doctor the possibility of a referral to one of these services, if you want advice on how to avoid or reduce the risk.

Standard screening tests early in pregnancy may also identify risks from infection or other causes. Sometimes these can be controlled.

If you are advised in pregnancy of a risk to your baby, you will be offered prenatal testing to see if the foetus is affected. You can choose whether to have the test or not. It is entirely your choice. Detailed advice should be given about the risks and the tests that are offered, before you make your decision.

If you do take up an offer of prenatal testing, it could have a number of impacts on you:

• Some intervention may be possible to treat the condition before or at birth.
• The test may reduce anxiety and confirm for you that the foetus is not affected by the condition that is being tested for.
• If the test results show the disorder is present and you decide to continue with the pregnancy, it will give you time to adjust and prepare yourself and others, for a baby that may be different, and have extra needs.
• If the test shows the disorder is present, you may choose not to continue with the pregnancy.

In all situations related to prenatal testing you should be offered counselling around the risks, testing options and the meaning of test results. Remember the choice is yours to make. There should be no pressure on you to think or act in any particular way. The counselling process is there to ensure you are well informed about all aspects of your circumstances, and are supported to make your own decision.

We recommend the counselling services that are accessed through the Genetics Service as providing the highest quality of information and support, within a strong environment of ethics and standards.