Performing genetic tests on human embryos is an option that a small percentage of IVF patients utilize during their treatment. Some patients know that they have an inherited disease in their family, so they choose to test their embryos and use only the embryos that are free of disease. This type of testing, called Preimplantation Genetic Diagnosis (PGD) is used for Cystic Fibrosis, Hemophilia, and hundreds of other diseases that are caused by small mutations in the DNA of the embryo. Because these diseases are relatively rare, only a tiny fraction of IVF patients need to avail themselves of PGD testing.
A more common form of genetic testing, Preimplantation Genetic Screening (PGS), counts chromosomes, the structures into which DNA is organized. Every human cell has 23 pairs of chromosomes. In each of these pairs, one chromosome comes from the sperm provider and one comes from the egg (oocyte) provider. It is important therefore that each sperm and oocyte is endowed with the correct number of chromosomes, as any mistake would lead to an embryo with the wrong amount of DNA. The classic example is Down syndrome which is caused by having a whole extra chromosome, usually in the oocyte of an older mother. This syndrome, specifically caused by having an extra copy of chromosome number 21 (i.e. trisomy 21) is familiar to many people since individuals with this condition survive into early adulthood. Chromosome errors are relatively common in oocytes and in sperm. However, the vast majority of errors result in embryos incapable of establishing a pregnancy or in pregnancies that miscarry.
Most patients undergoing IVF treatment create multiple embryos. PGS can potentially help to select genetically normal embryos for transfer.
One drawback to using PGS testing is that currently it is unable to count all the chromosomes in a cell taken from an embryo and there is a small error rate for each chromosome counted. In addition, it is known that even though some of the individual cells in an embryo have extra or missing chromosomes, when the majority of the cells are normal, the embryo can create a normal baby. PGS errors can occur when the cell that is tested is not representative of the whole embryo, a condition known as “mosaicism.” Because of these limitations, PGS is not a perfect technology and the American Society for Reproductive Medicine (ASRM) has recently established recommendations for its use (Fertility and Sterility, December 2007).
These recommendations strongly advise all couples to seek genetic counseling to ensure they understand the technology with its limitations and failure rates, before they choose to use PGS. (At PFC, it is a strict requirement for any person undergoing PGS (or PGD) to have a formal genetic consultation prior to the treatment). Further, couples are advised that there is no evidence that the use of PGS will increase their chance of having a child over couples who do not have the procedure. The ASRM recommendations point out that there is no scientific evidence to support the use of PGS in cases of advanced maternal age, recurrent pregnancy loss, previous implantation failure, male factor infertility or in making decisions about future fertility treatments. This viewpoint has been exceedingly controversial within the society.
In the eyes of the ASRM, PGS has been relegated to a position of having little value in the treatment of infertility. There were no situations for which the ASRM committee actually recommended PGS. However, the procedure does appear to be reliable for couples wishing to do family balancing, an issue not addressed in these guidelines. The technology as it is currently used is over 15 years old. New methods of testing are being researched and developed. It is likely that the existing technology will be completely replaced in the next 3-5 years. Hopefully, the next generation of tests will prove to be more useful.  Joe Conaghan, Ph.D., HCLD & Carl Herbert, M.D.
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Once the decision has been made to proceed with an egg donor cycle, the most frequently asked question is: How do I find an egg donor?
There are a number of egg donor agencies available to help you choose an egg donor. Some are independent, free standing agencies, not affiliated with an IVF center, and any patient can contract with that agency for an egg donor. Others are affiliated with an IVF center, and only patients who are enrolled patients of that IVF center can choose donors from the affiliated agency.
Pacific Fertility Center (PFC) has an affiliated donor agency, PFC Egg Donor Agency (EDA). There are a number of advantages to working with an agency associated with an IVF center.
- Comprehensive medical screening - all our donor applications are reviewed by a physician as part of the screening process. This professional evaluation of the applicant’s personal and family medical history is particularly important.
- Genetic screening – our donors undergo initial genetic screening based on their ethnic background prior to becoming available for selection.
- Other medical screening – our donors are pre-screened for the most commonly positive FDA required laboratory tests, thus minimizing the risk of a cycle cancellation after the donor has already been chosen
- Comprehensive review of past donor cycles - not all donors who present as “repeat donors” have necessarily had a favorable prior donor cycle. At PFC EDA, all past cycles are reviewed by the physician team before a donor is eligible for selection as a “repeat donor”
Most agencies provide you with a profile of each available donor, this profile commonly has between 10-15 pages of information. The profile often includes personal demographics (height, hair color, eye color), personal educational background, personal and family medical history, information to provide insight into her personality (favorite books, movies, long term goals), a section which addresses her motivations for donating, and a section where she is able to send a message to the potential intended parent(s). Armed with all of this information, you will be able to make a informed decision regarding the potential attributes of your future child(ren).
Common questions posed to the PFC EDA:
Should I pick a repeat donor? Every repeat donor was at one time a first-time donor. We have compared our pregnancy rates of first-time versus repeat-donor cycles and the pregnancy rates are the same. Oocytes from young women between the ages of 21-30yo have high pregnancy potential.
Will the pregnancy rates be better with a 23 year old versus 29 year old? No, the pregnancy rates will be the same. Fertility rates do not start declining until about age 34.
Should I pick a donor who has a college education? The desired outcome is a healthy pregnancy. A donor who had her children early yet did not necessarily attend college may be a more appropriate donor than a college educated donor with no pregnancy history. If the goal is pregnancy, the first donor’s fertility history may be more reassuring. Having a college education implies certain opportunities were available to the donor. Not all donors are afforded the same opportunities for education, but they still make great donors. Remember, the child(ren) you create will be products of the values which you provide them. The genetic make up of a college-educated donor will not ensure that your child(ren) will also attend college. The “nurturing environment” you provide your child is as important as the “acquired genetics” in determining their educational goals.
If my donor is shorter than I am, will my child be short? Height is a physical feature which is hard to predict. Projected height for a child is estimated as an average of the heights of both biological sources- but heights of grandparents can also factor into a projected height of a child. Gender of the child certainly contributes, with boys being typically taller than girls. So there is not a straightforward formula. The trend in the US is that average height for children is taller now than it was 100 years ago, or even 50 years ago. Some of this change is thought to be due to nutritional differences, but some is also thought to be attributed to genetics. A short donor will not necessarily lead to a short child(ren).
Does the blood type of my donor affect my chances of pregnancy? No, chances of pregnancy are independent of blood type of the donor. The donor’s blood type contributes to the possible blood type of the your child(ren), but it does not impact chances of pregnancy success.
As you proceed with the selection of an egg donor, our desire at PFC EDA is to have the process be as informative and easy as possible. We understand that this path may be a shift in your original vision of having a family, but it is important to remember you still have many choices. You will be able to create the family you so desire. PFC EDA is here to help guide you to this goal. Isabelle Ryan, MD
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PFC Focuses on Education
The New Year has brought change and opportunity to PFC. We recently celebrated the grand opening of our new Education Center. This new space provides patients with the opportunity to learn, share, and participate in various educational programs regarding fertility options. A formal ribbon cutting ceremony marked the official opening of this beautiful, state of the art learning and resource center. Robert Strickland, Executive Director, informed the attendees that, “PFC truly wants to make this center a place for disseminating valuable information about infertility and related topics.” He mentioned the center will provide such learning opportunities as monthly new patient seminars, Mind/Body@PFC programs, acupuncture seminars, support groups, weekly injection classes and special events. The Education Center has been a well received addition to the many services offered at PFC. Please check our website www.pacificfertilitycenter.com for a listing of events scheduled.
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I was born and raised in the San Francisco Bay Area. My father was a musician who toured with his band around the country during the first few years of my life. Time spent with my father was usually at the sound check for the big performance that evening. I learned how to play piano before I could read and spent many years playing cello competitively. I have fond memories of my early childhood and credit my father for my music "gene".
During my first year in college, I was in a major car accident. In the chaos of the accident I remember feeling frightened and confused. The first person who made me feel like everything was going to be okay was Buddy, the paramedic who responded to the emergency call. He was calm, professional and made me feel safe. I realized I wanted to help people in the same way. A few years later, I became an Emergency Medical Technician in San Francisco.
At the same time, I worked at UCSF in the Urology Department with Dr. Paul Turek. I feel lucky to have worked with such a brilliant doctor. He introduced me to the world of fertility. We worked hand in hand with the physicians that now make up Pacific Fertility Center. I was impressed with the competency, friendliness, and knowledge of the PFC physicians. They all shared a passion for their work and were strong advocates for their patients.
I have worked in several capacities within many different organizations in the world of fertility. I spent time at Stanford Reproductive Endocrinology Center assisting in all egg retrieval surgeries and at CPMC Prenatal Diagnosis Center helping coordinate appointments for PFC Preimplantation Genetic Diagnosis (PGD) patients. Along the way, I have been blessed with wonderful opportunities and built great friendships. I consider myself lucky to be the Program Manager of the Egg Donor Agency where I have passion for my work and will always be an advocate for our patients. I learned from the best!
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There is a wonderful stage in the treatment of many of my patients when the embryologist delivers to me a report with descriptions and pictures of embryos possible for transfer. Human embryos to be transferred into a human uterus with the fervent hope of a healthy baby will be the eventual result of this action. With the embryologist, I routinely study these pictures for signs meant to tell us which of the embryos may be the strongest, the healthiest, and the most likely to implant. We use the scientific and medical criteria developed during years of clinical experience to help us make what we hope will be the right choice. Often there is discussion, sometimes lengthy, about numbers of embryos, quality of embryos, percentage chance for pregnancy, percentage chance for multiple pregnancy, or other concepts important for truly successful treatment.
However, the intensity needed for answering these practical questions often diverts my attention away from a more visceral and perhaps emotional response to the embryo images. When I allow myself the luxury of a few extra moments for reflection, I find the picture of a human embryo to be a wonderful and powerful image for contemplating our own human condition. Each embryo may represent the very earliest beginnings for the development of a unique new person. Within those few cells are all the myriad of diverse traits, the specific clusters of DNA, which will transmit characteristics defining height, skin tone, eye color, hair texture, facial characteristics and body habitus (many details so often used to define race, gender, and ethnicity). The miraculous ability for creating this vast palette of human forms is a process to be honored, respected and celebrated. Unfortunately, these same characteristics have too often been the reasons for separation, isolation and persecution. Perhaps this is one of the results when we use “different” to define the other with whom we may quarrel.
So, I hold up the image of the embryo. The early stage through which we all passed, the stage when we all looked exactly the same, and offer it as evidence of our common biological heritage. It is this celebration of our “sameness,” which might provide us a common bond and make harming one another less logical and less palatable. The picture of an early embryo is for me a wonderful reminder of just how incredibly similar we all are, even as we display our different colors, our different voices and our different selves. Just imagine a collection of all the baby books in the world, opened to the first picture page showing that early embryo stage and experiencing the amazing inability to tell any of those babies apart. They are all the same! This is where we can truly see the Family of All Mankind. Carl Herbert, M.D.
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Free Seminar
Overcoming Infertility:
The Next Step to Parenthood
Ask • Meet • Learn
Led by PFC’s Infertility Specialists
Dates:
July 16, 2008
August 20, 2008
Location:
Pacific Fertility Center
55 Francisco Street, 5th Floor
San Francisco, CA 94133
Contact:
Please call for reservations,
directions and parking information:
888-834-3095
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-- Best regards from all of us at Pacific Fertility Center.
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