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MedTech Nursing Corner: BRCA gene and PGD, what do we know and how can be inform our patients of what is available?

As IVF nurses, you are faced with challenging cases on a daily basis. Many of the patients seeking out care at your centers have exhausted all options at their general gynecologist’s office or have complex medical or genetic disorders that need more specialized treatment options. For one group of women, BRCA positive patients, new research looks to be very positive and encouraging.

At the most recent ASRM conference in October, several studies were presented that showed ART outcomes for patients who were BRCA gene positive. BRCA1 and BRCA2 are human tumor suppressor genes found in all humans. Damage to one or both of these genes leads to an increase risk of breast and ovarian cancer in women. When preimplantation genetic diagnosis (PGD) is utilized to evaluate a women’s embryos for this specific mutation, embryos identified without either gene mutation can be transferred thus leading to a baby born free of the mutation. The good news is that the success rates of these cycles are essentially the same when compared to patients without the mutation.

Additionally, women with BRCA gene mutation may be concerned about whether undergoing fertility treatments will further increase their personal risk of developing ovarian cancer. A large study conducted by J.Gronwald et al. and an analysis from Dr. Richard Paulson both in 2015 have concluded that infertility treatments do not significantly increase the risk of developing ovarian cancer in this population of women.

While the above research is positive, research also indicates that the fertility of women with these gene mutations is compromised even before a diagnosis of breast or ovarian cancer. BRCA positive women have a diminished fertility outcomes related to significantly lower serum AMH levels, ovarian volume and antral follicle counts. Basal E2 and FSH levels were shown to be significantly higher when compared to the control group.

It is essential for women diagnosed with BRCA gene mutation to be aware of PGD and fertility preservation as options for their fertility treatment and offered it at the onset of their care with your practice. Many may feel very defeated with a positive BRCA mutation diagnosis. However, the positive news regarding their fertility can bring much needed hope.