Genetic Testing

Dr. Givens's picture
December 12, 2017

As in years past, Pacific Fertility Center (PFC) submitted original research this year for presentation at the annual meeting of the American Society for Reproductive Medicine (ASRM), held October 28 through November 1 in San Antonio, TX. Our study on genetic screening was accepted for poster presentation.

Carrier screening. This type of screening tests for “carriers,” in other words, asymptomatic people who have a mutation that causes a recessive genetic disorder. To have the disease, a baby must inherit a defective gene from each parent. Fortunately, lowered costs of testing now allow simultaneous screening of multiple recessive genetic conditions. This is called expanded genetic carrier screening.           

Dr. Givens's picture
December 11, 2017

An increasingly important aspect of clinical care in reproductive medicine involves medical genetics and, specifically, how to test for and avoid genetic diseases or chromosome abnormalities in offspring.

To advance this discussion, Carolyn Givens, MD, and PFC Genetic Counselor Lauri Black were invited to present and moderate an interactive session at the American Society for Reproductive Medicine (ASRM) annual meeting in San Antonio, TX at the end of October. The title of the session was “Follow the Double Helix: How to Intertwine Genetic Counseling and Your Practice.”

PFC Team's picture
May 19, 2015

San Francisco, CA – May 19, 2015 – Unprecedented high pregnancy rates combined with low pregnancy risks. That’s the promise of elective single embryo transfer (eSET), when combined with comprehensive chromosome screening (CCS) and other technologies. Today, with their new program, Pacific Fertility Center (PFC) is delivering on that promise, achieving pregnancy rates ranging from 50–75 percent per transfer and multiple gestation rates of just 2 percent—much lower than the 20–30 percent typical of traditional in vitro fertilization (IVF).

PFC Team's picture
December 11, 2012

When I was 38, my wife and I decided to have a baby. My initial efforts to conceive were via Kaiser Permanente. We used a sperm donor from the Sperm Bank of California. I had three IUIs, in the summer of 2010, the winter of 2010, and the spring of 2011. I got pregnant each time. Initially I was absolutely confident in my body's ability to nurture a baby, and when I lost the first pregnancy at 7 weeks, I was utterly surprised and disappointed. The second pregnancy only barely got off the ground; I believe that pregnancy lasted only to 5 weeks--just after my missed period. After each of the first two miscarriages, my Kaiser doctor urged me to be optimistic; statistics say that after two miscarriages, the next pregnancy will go to term. So I did a third IUI. That pregnancy lasted a little over 8 weeks.

PFC Team's picture
September 24, 2012

Genetic and Epigenetic Programs in Human Embryos

Each year, a team of physicians and staff from Pacific Fertility Center attend the Pacific Coast Reproductive Society (PCRS) annual meeting in Palm Springs, CA.  One of the best talks of this conference was given by Dr. Renee Reijo Pera, Professor and Director of the Center for Human Embryonic Stem Cell Research at Stanford University. This was the second year in a row that Dr. Reijo Pera spoke at this conference and she continues to stimulate us with her exciting research. This year she her talk was entitled “Genetic and Epigenetic Programs in Human Embryos.” Her work involves mapping the first six days of human embryonic life. This is a visual map, a genetic map, and a molecular map. Visually, she is filming and analyzing time-lapse images of human embryos in the incubator and has been able to correlate various parameters of how cells divide with the probability that the embryos will make it to a full blastocyst stage by day 5-6 of culture. This has important implications for in vitro fertilization treatment and in the future will allow us to select early on which embryos will likely progress to successful implantation. She has been able to show in preliminary experiments that if the timing of early cell divisions does not follow a specific pattern, those embryos are much more likely to contain an abnormal number of chromosomes. Human embryos also give off cellular fragments as they divide. Sometimes these fragments end up being reabsorbed by the embryonic cells. But these fragments can contain excess chromosomes and mitochondria that are leaving and re-entering the cells. Why this is happening remains to be discovered.

She has also been able to map the process of human embryos expressing their genes. By the 4-8 cell stage of life, human embryos have to “turn on” their own genes and start making their own proteins. They first do this by destroying the maternal RNA (DNA messages) that originally came from the maternal genes in the egg. Then the embryo’s own DNA starts to make its own RNA messages. This finally ends with embryonic proteins being produced in embryos that are viable. Poorer quality embryos and those with chaotic, abnormal chromosome rearrangements are unable to do this properly and stop dividing.

It’s really only by scientists performing some of this essential work on early human embryos that we are going to be able to understand why some embryos make it and some don’t. And it is this understanding that is going to help us to select those embryos most likely to become a healthy human.

     - Carolyn Givens, M.D.