Pacific Fertility Center and The Fertility Flash would like to invite you to a special Valentine’s Day event.
Do You Love Your Genes? Tweetup/Meetup (a Valentine’s Day event)
Thursday February 11, 2010 at 5:30pm
Pacific Fertility Center’s Education Center
55 Francisco St., Suite 550
San Francisco, California 94133 Get Directions

Please join us for genes, love, award-winning wine, chocolate, and tasty, healthy appetizers!

To view the invitation, click here

This is an in-person and virtual event for all who would like to participate and learn about the leading edge of genetics and fertility. We will also be tweeting live during the event to communicate with and connect tweeters.

Genes are an important part of life, especially for those who are struggling to conceive a child.  At this event we will celebrate these building blocks of life in all forms, whether they come from biological parents, birth parents, or donors.

We will also be joined by representatives from Counsyl and the Gene Security Network (GSN) to speak about their cutting edge genetic testing technologies.

For more details on our presenters see:

Pacific Fertility Center: http://pacificfertilitycenter.com
Counsyl: http://counsyl.com
GSN: http://genesecurity.net

**

Please RSVP at rsvp@fertilitywire.com or on Facebook at http://bit.ly/bopZUZ

FertilityWire is a source of real-time fertility information and
insights founded by fertility doctors. Visit us: http://fertilitywire.com

Follow us on Twitter at http://twitter.com/fertilitywire
Become a fan on Facebook at http://bit.ly/dB7ewl

Thank you for your interest in subscribing to Pacific Fertility Center’s free monthly newsletter. We respect your privacy: Your email remains confidential and will not be shared or sold.
Please click here to change your subscription preferences.

—Best regards from all of us at Pacific Fertility Center.

Q.
We recently had PGD performed, and it revealed that two abnormal embryos were developing beautifully and two genetically normal embryos had ceased developing. Why would the genetically normal embryos not develop in comparison to the genetically abnormal embryos? Would this be due to egg quality? Would the same results be expected for a future PGD procedure? Is it unlikely that a six-cell embryo that had not developed in two days would result in a pregnancy?

A.
I don’t have all the information needed to give you a complete answer but I’m going to assume that you are a typical IVF patient (in your late 30’s) and were doing PGD to eliminate embryos with chromosomal abnormalities or aneuploidy. During your IVF cycle the eggs that were harvested from your ovaries were inseminated and those that fertilized and continued to develop were analyzed genetically. Depending on your (maternal) age, somewhere around 50% of your eggs would have been genetically abnormal. The genetically abnormal embryos look and behave in the same way as normal embryos.

Most genetic abnormalities cause an embryo to fail at the time of implantation (5 or 6 days old) or cause a pregnancy to fail early (miscarriage). When we look at embryos under the microscope in the days leading up to transfer, there is no way of knowing which are genetically normal or abnormal. Both types of embryos grow and develop similarly. In fact, some embryos that we know are abnormal (e.g. resulting from an egg that is fertilized by 2 sperm) often develop faster and look more beautiful than normally fertilized embryos.

The egg is a very large cell and when it is released from the ovary it has already been programmed to develop for 3 or more days after fertilization. Mom pre-loads her eggs with the necessary information for this early development. In most cells, including sperm, there are internal checks to make sure that the cell is functioning normally and that it is genetically normal. Cells that are abnormal, commit suicide in a process that we call apoptosis. Eggs however, seem to have a very poor internal surveillance mechanism, and even those that are grossly abnormal (e.g. with a whole extra chromosome) can fertilize and develop even to the point of giving you a live child. Down syndrome is the classic example, although at least 75% of embryos affected with this condition miscarry early in pregnancy.

So, eggs are endowed at ovulation with the necessary information to keep them going and looking normal for days, regardless of their genetic constitution. There is no relationship between their genetic status and how beautiful they look in our petri dish. If there were, we wouldn’t need to do PGD. We can keep embryos alive in the laboratory for 5 or 6 days and some of the abnormal embryos might stop developing by that time. However, our experience with PGD over the years tells us that about 50% of the genetically abnormal embryos will still look beautiful on their 5th day of life.

The pattern of development that we see with human embryos, regardless of their genetic status, is extremely variable. As you have witnessed first hand, normal embryos often arrest for reasons that we don’t always understand. This is true, regardless of whether the embryos are growing inside of you or in our lab, and this leads to a very inefficient process of reproduction in human females because she only ovulates one egg per month. We do know that the younger a woman is, the better the chance that the embryo will continue to grow. Embryos are more likely to fail in older women. In very young women, over 50% of embryos will implant in the uterus, but in women over age 40 less than 10% will implant. Although we can’t fully explain this phenomenon, a major contributing factor is egg age. Since women have all the eggs they will ever have when they are born, a 40-year-old woman is trying to get pregnant with a 40-year-old egg. And 40-year-old eggs just don’t perform as well as younger eggs.

Are PGD results consistent from one cycle to the next? The PGD technicians tell me that they get similar results for a patient 2 out of every 3 times.

Any embryo that has not developed in 2 days will not get you pregnant. If an embryo is to be ready for implantation, it must be alive and increasing its cell number every day. We expect a full round of cell division (e.g. from 4 to 8 cells) every 16 hours. Further, an embryo transferred to your uterus on day 4 or day 5, following your PGD analysis, should have enough cells to begin forming a placenta. It sounds like your embryo had arrested (i.e. it was dead).

Human reproduction is a very complex undertaking, and often patients feel like they’re left with more questions than answers after their fertility treatment. Don’t be afraid to ask your questions, no matter how simple or complicated they might be. Chances are, we’ve encountered your situation before. - Joe Conaghan, PhD, HCLD

For patient(s) who need to use an egg donor to create or expand their family, medical scrutiny is performed on the chosen egg donor before she can proceed with the IVF cycle.

The medical screening of egg donors is an important process. Here at the PFC Egg Donor Agency, we proceed with an extensive screening process PRIOR to allowing the egg donor to become eligible for choosing by the intended parent(s). This extensive screening is performed to help determine and identify any medical factors which may disqualify the donor, or to identify information which may require additional testing prior to determining donor eligibility. At PFC, our philosophy is that we want to identify any issues prior to intended parents choosing the donor, so that the risk of identifying medical issues with the donor after the start of the IVF cycle is minimized, and the risk of canceling the cycle is much reduced.

Medical screening for the donor includes an extensive review of her personal and family medical history, physical exam and pelvic ultrasound, psychological evaluation (in-person visit with our MFT Peggy Orlin),

standardized personality assessment (PAI), and blood testing including ethnic appropriate genetic testing.

The PFC Egg Donor Agency complies with current recommendations by the American College of Obstetrics and Gynecology (ACOG), and the American College of Medical Genetics (ACMG). The donor identifies her ethnic background, and based on this information, appropriate testing is performed (see article by Lauri Black, Genetic Counselor, outlining current recommendations). This testing is done and results reviewed prior to approving the egg donor as eligible to be in the donor database. If the donor is a carrier for a genetic mutation, this may disqualify her from being an egg donor; some genetic mutations may not be disqualifying, but the sperm source may need to be screened for that mutation, prior to deciding to choose that egg donor. These tested mutations are for recessive disorders, so an embryo would only be at risk of having the disorder if BOTH the egg and sperm source were carriers for the identified mutation (see above noted article).

It is important to understand that new genetic mutations are identified almost every day; so recommendations for ethnic-based testing do potentially change year by year. While many genetic mutations have been identified on the human genome, many of these are very rare, and only mutations that are more frequently seen within one’s ethnic group are those that are recommended to be tested for. It is not appropriate, nor feasible, to check for all known possible mutations. The PFC Egg Donor Agency is kept apprised of current recommendation by our affiliated genetic counselors, so that our list of genetic screening tests may change over time. Rest assured that we keep informed of these changes, and comply with up-to-date recommendations.

While all this testing may seem cumbersome, it is to help assure that once you choose your egg donor, we can proceed with the IVF cycle with minimal risk of a cancellation, and start you on your way to achieve your dream of a healthy family.

Isabelle Ryan, M.D. is recognized by prestigious medical associations for her pioneering research leading to new insight into the important clinical problem of endometriosis related infertility. Dr. Ryan is medical director of PFC’s Third Party Parenting Program and Egg Donor Agency.