A woman who is eight (8) weeks pregnant requests a direct test for Huntington’s disease on her fetus. She tells her geneticist that she wants the test because she recently discovered
A woman who is eight (8) weeks pregnant requests a direct test for Huntington’s disease on her fetus. She tells her geneticist that she wants the test because she recently discovered that there is a family history of the disease in her husband’s family. One of his parents is affected so he is at 50% risk of developing the condition. She is adamant that she does not want to give birth to a baby who is at risk of developing Huntington’s and says that the test will help her to ensure that this is not the case. In counseling, she reveals that she has discussed this issue several times with her husband but he has always said he is not willing to take a test. He does not want to know his status and is extremely anxious about the possibility that he might develop the condition. The woman and her husband are currently separated but are seeing a relationship counselor and trying to work things out. Despite this, the woman says they tend to fight a lot. When it is explained to her in counseling that testing a fetus will, if it is positive, be to test her husband, she makes it very clear that she does not want to discuss it with him as he would inevitably make a fuss and attempt to stop the test going ahead. She wants to take the test in order to make an informed decision about her pregnancy.
- What is the nurse's role in this situation?
- How should this woman be counseled in regard to the genetic testing of her fetus and telling her husband of her decision(s)?
Huntington's disorder is an autosomal dominant genetic disorder. It causes the breakdown of the nerve cells in the brain. Chromosome 4 of an individual has a defective gene that leads to the disorder. The signs and symptoms include:
- Difficulty focusing
- Stumbling
- Changes in the mood
- Depression.
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