Many populations of the world have specific genetic conditions that are prevalent within their ethnic group. Consequently, numerous medical organizations have recommended that genetic screening for these conditions should be offered when women are either planning for, or are currently pregnant. We are all carriers of genetic conditions: generally this is of little concern, as it is highly unlikely that we would have children with a partner who is a carrier for the same condition.
The genetic conditions listed in the table below are recessive. A recessive gene mutation is “carried” by someone who is unaffected by the disease, and thus unaware of their carrier status. Men and women have equal potential to be carriers for recessive conditions. Even if someone is a carrier, we would not expect to see a family history of the disease. If there is a family history, the likelihood of being a carrier of that condition is generally greater than in the general population. Being a carrier for a genetic condition typically has no impact on the carrier’s health and development. However, if a carrier has a child with another carrier of the same genetic disease,
the chance that the child will be affected with the disease is 1 in 4 (25%).
If only one partner is a carrier, and the other tests negative, then the risk of an affected child is low, but not zero (a result of the limited ability to test for all defects that would make one a carrier; see table). These genetic screening tests are typically performed on a blood sample.
Below is a table listing the minimum number of tests for various ethnic groups recommended by the physicians at Pacific Fertility Center prior to starting assisted reproduction treatment. Additional genetic tests may be considered after a discussion with your physician.
If you know that both you and your partner are carriers of the same genetic defect, you may be able to have embryos created in an IVF cycle and tested for their status. Preimplantation genetic diagnosis (PGD) is a technology that allows embryos to be tested for specific disease causing mutations. PGD can identify unaffected embryos for transfer back to the uterus or freezing.
—Guest Contributor – Certified Genetic Counselor Lauri Black, M.S., C.G.C
| Ancestral Population |
Genetic Desease |
Carrier Frequency |
Detection Rate* |
| All |
cystic fibrosis |
Approximately 4% in people of European (and Ashkenazi Jewish) ancestry and less common in other populations |
Approximately 88% for Europeans, 94% for Ashkenazi Jewish ancestry, less accurate for others |
| Ashkenazi (Eastern European) Jewish ancestry |
cystic fibrosis, Tay Sachs, Canavan, familial dysautonomia |
Approximately 3% for Tay Sachs, 2% for Canavan and 3% for familial dysautonomia |
Approximately 94-99%, (depending on the condition tested) |
| African/African-American, Chinese, Southeast Asian, or Mediterranean ancestry |
Hemoglobinopathies, such as sickle cell anemia and thalassemia |
Approximately 10% of African-Americans are sickle cell carriers; 5-6% of Asians and 12% of some Mediterranean populations are thalassemia carriers. |
Variable depending on method, but very high (in the 90 percentiles) |
*See lab specific accuracies on test result
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Steve and I met and fell in love in our twenties. We both thought we would want children "some day." Eleven years later we realized "some day" had finally arrived. I was thirty-six then, but I never thought we would have any problems conceiving. My mom had three children in her late thirties and into her forties.
After six months with no success, my doctor ran the usual tests and found nothing wrong, so my OB recommended going to PFC. We did one IUI, then decided to move on to IVF. My first IVF cycle failed. We were preparing for the second when we were delighted to findout I was pregnant naturally. I gave birth to a healthy baby boy.
We wanted more children, and as it had taken two and a half years to conceive Alan, we decided to start trying again straight away. We weren't so lucky this time, so after 18 months we were back at PFC talking to Dr. Givens about doing IVF again. Then we discovered a new problem – my FSH was now elevated. So, now I also had decreased ovarian reserve in addition to unexplained infertility.
We tried four cycles of IVF with my own eggs. I did get pregnant on my third cycle, but sadly miscarried at eleven weeks. I was now forty-two and felt it was time to move on.
Now we faced decision time-do we give up, move on to donor egg, or move to adoption? We were both sure we wanted more children, and I felt that by carrying the child I would feel that it was truly mine, even if I didn't have the biological connection. Oddly enough, it was harder for Steve to move on to an egg donor. But after lots of talking it through, he felt it was the best choice for our family too.
We met with Peggy the PFC counselor, who was very helpful. Dr. Givens thought an egg donor was a great option for us. She said that with a transfer of two blastocysts, our chances of conceiving were about 80%. We ended up with a short list of two potential donors. One was a perfect match on paper—my height, my hair color, my eye color, with the right ethnic background. The second wasn’t such a perfect match, but I just felt a really strong connection to her. I really felt that if we met in real life we would be friends. In my mind I kept going back to something Peggy had said "pick someone you really like", it was great advice. We went with donor number two, and are very happy with our choice.
Initially everything went well, but then on day three we received a phone call asking us to come in. Our embryos were looking very stressed. Most were grade three with low cell count. We transferred the best three and prayed.
On the day of our beta pregnancy test, Ann (one of the nurses at PFC) called to give us the good news. I was pregnant! Once we saw the heartbeats, we told our son Alan, "Mommy has two babies growing in her tummy," and he was thrilled. Feeling those babies kicking and squirming around inside, I had no doubt whose babies they were—I might not have provided the eggs, but my body turned those little seven or eight celled embryos into two beautiful children.
The first day Alan got to meet his new brother and sister the look on his face said it all. It was love at first sight. He has made a wonderful big brother, the twins adore him, and our family now feels complete. I feel
truly lucky when I look at my three wonderful children. I am very grateful to Dr. Givens and all the wonderful staff at PFC, and especially to our donor.
Some people may wonder, if I love all of my children the same. They have three very different personalities, so I love them all differently; but I do love each one as much as the other. In the words of one of our favorite books, they are "all my favorites."
—Submitted by Trisha (PFC patient)
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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.
Joe Conaghan, Ph.D., HCLD is PFC’s laboratory director. Dr. Conaghan is internationally recognized for his work on improving embryo culture conditions. His interests include developing programs for the treatment of severe male factor infertility; diagnosis of genetic disease in embryos; and improved embryo culture.
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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.
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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.
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