May 2013 eNews
Fertility Concerns for Women with BRCA Gene Mutations
by Stephen R. Lincoln, MD, FACOG
Breast and ovarian cancer are the numbers 1 and 6 most common neoplasms facing all women today. Both breast and ovarian cancer risks are higher if one has a family member affected and, with recent advances in genetic research, genetic mutations have been identified that now can be clinically detected in patients at risk for these cancers. Individuals found to be positive for the BRCA 1 and BRCA 2 gene mutations may have as high as a 65 to 80% risk of developing breast cancer and 20 to 50% chance for ovarian cancer. Women overall have a 1/500 to 1/100 risk of carrying the BRCA mutation.
Carriers of the BRCA mutation face some difficult decisions for their reproductive and general health. Women with the mutation are generally counseled to complete their child bearing at an early age and then consider drastic prophylactic measures to reduce the chance of developing cancer. These measures include bilateral salpingo–oophorectomy (removal of the fallopian tubes and ovaries) as well as bilateral mastectomies (removal of the breasts). The BRCA mutation carriers not only have to deal with the fear of developing cancer, but also the shortening or ending of their reproductive function before they may be ready to have children.
Fortunately, BRCA mutation patients today now have more options in preserving fertility than even a few years ago. If a patient does not have a partner, egg freezing has become a state of the art technology and standard of care for patients about to have their ovaries removed due to BRCA mutations or any other reasons. Additionally, if a patient has a partner, embryos can be created and then cryopreserved for later use by that couple.
Patients with the BRCA mutation have an additional concern when they have children now or in the future. The children of BRCA mutation carriers may have the same risks of developing cancer as their mother does if that child inherits the mutation. One of the most exciting projects GIVF has undertaken is about to give BRCA mutation patients an opportunity to eliminate the risk of their children having the BRCA mutation. Thanks to recent advances in reproductive medicine and preimplantation genetic diagnosis (PGD), BRCA positive patients can halt the inheritance of the mutation. It requires couples to undergo in vitro fertilization, a standard fertility treatment where eggs are harvested from the female, mixed with her partner's sperm in the laboratory, embryos are cultured from the fertilized eggs and finally tested using PGD for the BRCA mutation before transfer back into the female. In this manner, only embryos without the BRCA mutation are transferred and a mom-to-be does not have to worry her daughter will have the same dilemma in the future that she has now.
Preserving future fertility in cancer patients and those at risk for future cancer has been a recent focus at GIVF. With the development of The Fertility Preservation Center for Cancer Patients, GIVF has become a leader in the DC, Maryland and Northern Virginia region in providing immediately scheduled consultations and individualized treatments for any cancer patients. We are now the only local center specializing in cancer patients as well as BRCA mutation patients that provides all services at one location, including egg freezing, embryo freezing, genetic counseling and PGD.
- Expanded access to The Delivery Promise well received
To learn more about The Delivery Promise please call 800.552.4363 or visit our financial programs page.
- Walk of Hope is approaching! RESOLVE has organized this one-mile walk at National Harbor in an effort to support those living with infertility and to raise awareness for how it impacts families. "Team Eggs Treme" from GIVF is among the top fundraisers. Join our team at the Walk of Hope on Saturday June 22nd at 8am. Click here to learn more.
- GIVF Welcomes Guest Speaker Eli Adashi, MD, MS, CPE, FACOG. Dr. Adashi to give lecture entitled “The Multiple Births Epidemic: It is not Just About IVF Anymore.” Wednesday May 15th at 5pm at GIVF.
Egg Freezing: A Way to Suspend a Woman’s Biological Clock
by Sunita Kulshrestha, MD, FACOG
Over the past 35 years, tremendous strides have been made in the treatment of infertility. In vitro fertilization is able to bypass causes of infertility related to sperm quality, tubal disease, endometriosis, pelvic adhesions (scar tissue) and anovulation. The one challenge that has continued to remain, however, has been treating abnormal egg quality or ovarian aging. A woman’s fertility declines progressively through her thirties and that decline becomes steep as she approaches age 40. In the most recently collected national data from the Centers for Disease Control/SART, the average live birth rate for a woman less than age 35 from an IVF cycle was 41.5%, at the age of 38-40 it was 22%, at age 43-44 it was 5% and at age 44+ it was 1%. Along with the decrease in pregnancy rates at advanced ages comes an increased risk of miscarriages and birth defects, predominantly related to aging of the egg. Although there is no way to reverse this natural biological process, there is a way to effectively slow down this process and capture egg quality at a better time through egg freezing (oocyte cryopreservation) at a younger age.
In my own experience treating single women who are not in a position to achieve pregnancy in the near future, I have found that oocyte cryopreservation empowers them and makes them feel satisfied that they have done whatever they can to take charge of their fertility and try to ensure their reproductive options with their own eggs. Some patients are able to continue to pursue their professional targets and goals, and others don’t feel pressured to find “Mr. Right” in the immediate future. I am so excited about this technology as I think it will revolutionize the concept of the "biological clock” and provide the option to women to pursue pregnancy at a time that is right for them.
Although the first live birth from oocyte cryopreservation was reported approximately three decades ago, it took more than 20 years for oocyte cryopreservation to evolve into a technique with good clinical success rates. In the past, the greatest technical challenge was the formation of ice crystals that disturbed the internal cellular machinery and function of the egg. The newer freezing technique of vitrification, along with the use of newer cryoprotectants, allows the ultra-rapid cooling of the egg without the formation of ice crystals. Until quite recently, oocyte cryopreservation was considered experimental. However, in January 2013 the American Society for Reproductive Medicine stated that it should no longer be considered experimental as it is thought to be a safe and effective treatment. To date, there have been well over 1,000 deliveries worldwide from warmed, previously-frozen eggs and no evidence of any increase in miscarriage, chromosomal abnormalities, birth defects or developmental deficits. There is good evidence that in younger women, fertilization and pregnancy rates with warmed, previously-frozen eggs are similar to the rates with fresh eggs.
Oocyte cryopreservation involves pursuing the standard IVF protocol for the purpose of collecting and freezing eggs for future use in order to preserve reproductive potential. Patients take injections of the hormones of FSH and LH in order to produce multiple follicles (structures containing the eggs). This is then followed by an office procedure called an egg retrieval in which a physician passes a needle through the vagina into the ovaries to collect the eggs. During the procedure, the patient is given intravenous anesthesia and is asleep and pain free. The retrieval takes about 10-15 minutes and is safe with a risk of less than 1% (bleeding, infection, or injury to surrounding organs). The medications are safe with no long-term negative effects. Side effects of the medication during administration are related to the fact that the ovaries become larger (bloating, mild pelvic discomfort) and that estrogen levels are increased (exaggerated PMS symptoms). Once the eggs are collected, they are evaluated and all of the eggs that are viable and mature are vitrified (frozen) for future use.
Personal egg banking is the term we use for elective cryopreservation in women who wish to delay childbearing for personal and social reasons (lack of a male partner, pursuing education or professional goals, financial or other reasons). It allows a woman to prevent the age-related decline in egg quality. Theoretically, since the uterus does not age, a woman who freezes eggs in her 20s or 30s, can continue to use these eggs through her 40s and early 50s, at a time where without this option, her only choice would be to use Donor Egg IVF. However, the fact remains that freezing eggs at an earlier age does not guarantee a pregnancy in the future. Additionally, based on a patient’s age and her social situation she may never need to use the eggs. Although egg freezing can suspend the “biological clock” in terms of egg quality and pregnancy rates, we do encourage patients to still try to use their eggs when they are younger since there are more medical complications of pregnancy at advanced ages.
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