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Ask the cancer genetics team: reproductive options for people with Li-Fraumeni Syndrome


Q: We would like to have children, but my partner has Li-Fraumeni Syndrome, and we are worried about passing the condition down to our children. Are there ways to prevent this?

A: Planning to have children can raise many questions and concerns. Often, individuals with hereditary cancer predisposition syndromes worry about passing the condition down to their children. The level of concern varies among couples and may even differ between partners. Factors that can play a role in reproductive decision-making for couples might include:

  • Personal and family experiences with cancer
  • Age at cancer diagnoses in a family (pediatric versus adult)
  • Medical management issues pertaining to the cancer syndrome and whether or not the couple has preexisting fertility issues
  • Ethical, spiritual and religious beliefs

There are several different reproductive options available to you, which are described below:

  • Postnatal genetic testing: It is important to remember that there is a fifty percent risk of passing the altered gene to each child. This is because we have two copies of every gene, as we inherit one copy of each gene from our mothers and one from our fathers. People with Li-Fraumeni Syndrome carry one altered (non-working) copy of the TP53 gene and one normal (working) copy. The copy that is passed down to each of the couple's children is determined by chance. Once the child is born, parents can work with their child's doctor to decide the appropriate timing of genetic testing to determine whether the child has inherited the altered gene. (See question on when to test children.)
  • Prenatal diagnosis: Some couples may first become pregnant and then decide to undergo prenatal genetic testing to determine if the fetus carries the altered gene. This may be done through several different methods:
    • Chorionic villus sampling involves ultrasound guided sampling of a small piece of the placenta (the chorionic villi), and is usually done when a woman is 10-13 weeks pregnant.
    • Amniocentesis involves ultrasound guided sampling of a small amount of the fluid surrounding the developing fetus (amniotic fluid), and is usually done when a woman is 16-20 weeks pregnant. For some couples, genetic testing in pregnancy can be an important tool as they prepare for the arrival of their baby or to make decisions about continuing a pregnancy.
  • Preimplantation genetic diagnosis (PGD): PGD is a reproductive technology which involves joining sperm and egg in a laboratory dish to form embryos (in vitro fertilization, or IVF). After a few days of development, one or more cells are removed and tested to determine if that embryo carries the family's genetic alteration. Embryos without the genetic alteration may be selectively transferred to the uterus for pregnancy. PGD allows couples the opportunity to significantly reduce their chance of becoming pregnant with a child who has inherited the familial gene alteration.
  • Sperm or egg donation: If it is the male partner who carries the altered gene, a couple can become pregnant through the use of donated sperm via a process called intrauterine insemination. If the female partner is the one who carries the altered gene, the couple can become pregnant using donated eggs through the process of in vitro fertilization (described above).
  • Adoption: Some couples choose to pursue adoption of an infant or older child rather than having their own biologically related child.

The above described methods all involve benefits and risks which should be reviewed with the appropriate expert. If you are interested in discussing these (and any other) methods in greater detail, we would be happy to provide you with appropriate referrals.


 
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