This summer, we are introducing a new procedure in our laboratory that will allow us to do genetic testing on embryos that have reached the blastocyst stage of development. Traditionally, embryos are biopsied when they are just 3 days old at which time they should have reached the 8-cell stage (see figure 1). The biopsied cell is sent to the genetics laboratory for testing while the remainder of the embryo continues to grow in our laboratory. The genetic testing results are received 48 hours later, when we hope that the embryo will have reached the blastocyst stage (see figure 2). Blastocysts that have passed genetic screening can be transferred or frozen for later use.

Performing the biopsy when the embryo has become a blastocyst is more technically challenging, and it allows less time for the genetics lab to do their testing. However, in a blastocyst, we are specifically able to biopsy from the part of the embryo that will become the placenta, and we can get more than 1 cell, which allows for greater accuracy in the genetic testing. Depending on how quickly the test is run, the embryo may have to be frozen while we wait for the results.

While freezing is inconvenient, it does allow time for more complex genetic testing, and for multiple tests if necessary. And, with the success of vitrification for preserving embryos (see Fertility Flash Vol. 7, Issue 3), we are confident that the frozen embryos will survive and implant at high rates when thawed.

In the next few years, we expect that the traditional methods for biopsy and genetic testing will disappear and that blastocyst biopsy will be the standard procedure. As genetic testing evolves, it will not be possible to rely on just a single cell from an embryo to get dependable results. We already know that there is genetic variability among cells in an individual embryo, a phenomenon known as mosaicism, and our new procedure will overcome this problem.

In the coming months, we will announce an exciting new partnership with a Bay Area genetic testing lab, and we will keep readers informed on our progress with genetic testing in embryos. This is an exciting field that continues to evolve.

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.

On May 15th, we were fortunate to have Dr. Daoshing Ni, D.O.M, L.AC., Ph.D., a Licensed Acupuncturist in the State of California, a Diplomat of Chinese Herbology, and a 76th generation acupuncturist come to speak at PFC about the benefits of combining acupuncture and ART.

Dr. Ni spoke about some of his own research studies on acupuncture and ART and also discussed some of the issues with the current protocols that are being used today. He emphasized that the Paulus protocol is a good guideline when doing embryo transfers, and he encouraged the addition of other supportive acupuncture points. He also strongly encouraged that patients be treated with Chinese medicine for at least 3 months before their ART cycle begins. Dr. Ni also spoke about how the use of Chinese herbs contribute to improving egg quality.

This outstanding program was attended by PFC’s acupuncturists, physicians, and staff. In addition, area wide acupuncturists were invited to hear Dr. Ni’s presentation, meet one another, and share ideas.