To assess sperm or egg viability and learn more about fertility preservation, contact a fertility clinic in your area
For those who want to ensure their risky gene mutation is not passed along to their children, pre-implantation genetic diagnosis is the process of screening embryos. However, there may be moral implications involved for some when considering the disposal of mutation-positive embryos.
Both male and female risky gene carrier parents each have a 50% of passing their inherited gene mutation(s) to each
of their biological children.
In the case where both parents are mutation carriers, there may be additional risks to the child. As an example, if both parents carry a BRCA2 mutation there is an implication in Fanconi Anemia, which is a disease that mainly affects the bone marrow and results in decreased production of all types of blood cells. Learn more
As with most aspects of HBOC syndrome, little research exists with regard to fertility. And, what does exist is based only on BRCA risky gene mutations.
A study done by Dr. Stephen Narod of Toronto's Familial Breast Cancer Research Unit showed no relationship between BRCA mutations and infertility. However, another study showed that women with BRCA1 mutations had fewer eggs as compared to women without BRCA mutations. We could find no research done on male carriers, but did find a study in the American Society for Reproductive Medicine Journal on mice, in which sperm quality for BRCA1 mice was found to be compromised.
A research study on BRCA mutation carriers and menopause reported a significantly earlier age at natural menopause for carriers, and if they were heavy smokers that risk was compounded.
Pre-Implantation Genetic Diagnosis
For those willing to go through fertility treatments, there is still hope to have one or more biological children. Oocytle Cryopreservation is the freezing of human eggs, with the goal of preserving the reproductive ability in women of childbearing age. At a later date, embryos can be created with the sperm of a male, after which a surrogate could be used or, if their own uterus is still intact, they may be able to carry the child to term themselves.
Estrogen-suppressing drugs that result in infertility are sometimes recommended for preventative means, or are recommended to reduce the risk of a cancer recurrence.
Removal of ovaries/fallopian tubes greatly reduces the risk of ovarian cancer in carriers but is usually recommended when a woman is still in childbearing years, causing infertility. Removal of the uterus is often also recommended, but in some cases may be delayed if a woman chooses to harvests her eggs to use at a later date and wants to carry her own child.