Posts Tagged ‘Blastocyst Culture’

A Valentine Story: “Love and Hope Triumph Over a Genetic Time Bomb”

Thursday, February 17th, 2011

When it comes to love, no one can know where the heart will lead. In the case of Brian, destiny transported him to the Far East, where he was fated to meet the unexpected love of his life.

Brian was young and full of hope in his career as an English teacher overseas. “I was only going to go to South Korea for a year. That was the plan, at least.” Brian’s journey towards parenthood began with a mysterious blind date in a far away land just before Christmas when thoughts turn to home and family. A lovely young English teacher whom Brian nicknamed “HK” was to be his future bride. It was Brian’s first Christmas away from his family, but “HK was able to put me at ease and we had a wonderful time.” The two young teachers were so taken that their second date was just two days later on Christmas Day.

The young couple looked forward to their careers, Brian as college professor teaching English at a private university and HK teaching English to young students. Love was in the air and a year and a half later they were married. In Brian and HK’s families and in their dreams, having children was a high priority. As Brian and HK explained, “We both wanted children in order to complete our family and every decision we made after was designed to have children.”

Shortly afterwards, HK announced the news that she was pregnant. But then, a strange turn of events unfolded. HK’s pregnancy became complicated and a diagnosis of a genetic illness was diagnosed by doctors and their baby died. Tests were performed and a rare condition known as Sly Syndrome was determined to be the cause. Brian and HK were advised to undergo tests on themselves and then the shocking news came. Each of them was the carrier of an extremely rare genetic disorder which is found in only 1/100,000 human beings. The destiny that brought them together had cruel surprise in store for them.

The transmission of Sly Syndrome is such that a certain percentage of the offspring may be healthy while others may carry the devastating disease. The couple took time to consider their fate and decided to conceive again. Incredibly, four subsequent pregnancies ended in the death of their children, all carrying the fatal disease.

But their devotion and love for each other sustained them in their quest to find an answer to this reproductive nightmare. During a trip to the United States, they met with an OB/GYN doctor who listened carefully to their unfortunate pregnancy outcome. She advised them of her colleague who specialized in helping couples with recurrent pregnancy loss.

Their journey brought them to the reproductive endocrinology specialists at West Coast Fertility Center. The couple met with Dr. David Diaz, the Center’s medical director and fertility specialist with 22 years of experience. Specials tests were performed at the Center’s laboratories to determine that HK could carry a pregnancy. The results were reassuring and attention was focused on the genetic basis of their future.

Advanced studies were performed for the couple and 6 weeks later the results were given. The exact gene sequence responsible for the killer disease had been identified in their DNA. Working closely with collaborators at Genesis Laboratory, plans were made to construct molecular probes that would identify embryos that carried the Sly Syndrome gene.

Dr. Diaz and his team prepared to perform in-vitro fertilization (IVF) for the couple, harvesting HK’s eggs, fertilizing them in the Center’s embryology lab and performing Pre-Implantation Genetic Diagnosis (PGD) on their embryos. Five days later, two embryos were replaced in HK’s uterus and she returned to Korea.

Two long weeks passed until the pregnancy test was positive!  An OB ultrasound confirmed that one embryo had implanted. The pregnancy continued normally and at long last a long awaited beautiful baby girl named Ella was born in South Korea. She was normal in all respects and the couple’s joy was at last complete. The news arrived at West Coast Fertility by email and the WCFC staff was elated by the news.

Update on Brian, HK and Baby Ella
Because of the special circumstances, the planning for a sibling for their baby began about one year ago. Travel plans and work schedules needed to be well coordinated for their next visit to California. Fortunately, the scientists at WCFC had remaining frozen embryos created during their initial IVF.

The couple is currently in Orange County and anticipating their next embryo transfer with a mixture of cautious optimism. Brian states, “Through their help, we were able to have children. I can’t think of a better Valentine’s present than that. So thank you, West Coast Fertility.”

As explained by Dr. Diaz, “There is nothing more gratifying to my staff and I than to play a role in the creation of these special families. Happy Valentine’s Day to Brian and HK and baby Ella!”

About David G. Diaz, MD, FACOG

More info on Pre-Implantation Genetic Screening (PGD)

Read full Press Release: Genetic Time Bomb is Defused: Healthy Baby Girl is Born

Genetic Time Bomb is Defused with Preimplantation Genetic Diagnoses (Embryo Screening): Healthy Baby “Ella” is Born

Wednesday, September 15th, 2010

Brian and HK are like many other young couples–bright, energetic people who wished to fulfill their lives by starting their family. The couple achieved pregnancy but sadly, five devastating pregnancies were lost, dashing the couple’s goal of having children. The couple sought help from their OB/GYN doctor who referred them to West Coast Fertility Centers in Orange County, California. View Full Press Release

At West Coast Fertility Centers, Brian and HK met with Dr. David Diaz who directs the Center’s Assisted Reproductive Technology program. Dr. Diaz carefully reviewed their medical records and discovered that both Brian and HK were carriers of an extremely rare and deadly genetic condition called Sly Syndrome with an incidence rate of 1:250,000. The most severe form of the syndrome results in deformities of the bones and heart, mental and visual problems and premature death.

In Sly Syndrome, the defective genetic code is carried in the chromosomes, tiny fragments of DNA which are passed from parents to their children. Genes carry the codes for eye color, height, intelligence and the overall health of each person. Sly Syndrome is transmitted as an Autosomal Recessive disease meaning that when each parent is a carrier, the disease is dormant. However, when two autosomal recessive genes combine, the result is a variety of offspring that may also be carriers or they may manifest the deadliest full expression of the disease.

Dr. Diaz determined that by using Preimplantation Genetic Diagnosis (PGD), he might help the parents using their DNA to create embryos with In-Vitro Fertilization (IVF) and screen them in his laboratory. Collaborating with a specialized Genetic Center, special molecular probes were custom designed to identify the deadly gene sequence. By hybridizing the probes to the genes in the embryos, the Center identified the abnormal embryos from the healthy ones. After two embryos were placed in her uterus, HK and Brian departed to their home overseas, to begin their work as teachers.

Embryonic Cell Removal for DNA Analysis

“We are fortunate to have an awesome team of scientists, nurses and staff at West Coast Fertility,” says Dr. Diaz. The fertility team has used PGD to help many couples select for healthy embryos when conventional methods are not sufficiently precise.

The center has an “in-house” PGD laboratory where strict quality control can be maintained by the Center’s scientists. The tissue samples are examined on site avoiding risky transport of the delicate material. This in-house capability enables a rapid 24 hour turnaround time to obtain the PGD results promptly and efficiently. The results are reviewed individually with the parents who are counseled and are given precise follow-up instructions.

Optimism began building two weeks later when the pregnancy test was positive! However, caution prevailed until an amniocentesis was performed by removing fluid surrounding the baby at 4 months into the pregnancy. To the couple’s delight, they were blessed with a healthy baby girl, free of the deadly disease. Overjoyed, the proud father contacted the West Coast Fertility team to share the couple’s joy and share their happiness.

“Dear Dr. Diaz and Staff. Here is a picture of our family. You can add it to the “wall of fame.” Seriously, we are very happy and thankful for your help. We look forward to working with you again, perhaps in February.” Sincerely, Brian HK and Ella

The Happy Parents Brian and HK with their Healthy Baby Ella

Who May Benefit from PGD? Embryos that carry certain chromosomal or genetic conditions may fail to initiate implantation to the uterine lining. Other outcomes may be a pregnancy loss or the birth of a child with physical, mental, and learning disabilities. PGD is useful for patients who have other types of reproductive medical problems.

These are some examples of when PGD is recommended to patients:

– Recurrent miscarriages (usually more than 2)

– Women 35 and older who produce 6 or more embryos with IVF

– Family history of chromosomal conditions or history of X-linked disease

– Unexplained infertility

– 2 or more unsuccessful cycles

It is well known that fertility in general decreases with maternal age. Research has confirmed that genetic abnormalities also increase with advancing maternal age. A major cause of low implantation is that many embryos are chromosomally abnormal and they seldom implant or get to deliver. PGD allows for the selection of the best quality embryos which are then transferred during IVF, therefore reducing the incidence of a chromosomally abnormal offspring.

View Press Release

Blastocyst IVF at West Coast Fertility Centers (www.ivfbaby.com) Results in Twin Pregnancy

Monday, March 29th, 2010
The happy couple poses with Joan Moody, our nurse practitioner. 
They are proudly displaying the first ultrasound picture of their twins.

 West Coast Fertility Centers is happy to share another one of our most recent success stories. This couple first came to us in 2008, hoping that Dr. Diaz could help them get pregnant. After one failed fresh IVF cycle they were offered the option to thaw the majority of their embryos and have them cultured to the blastocyst stage. A blastocyst culture allows the embryos to develop for a total of five days before transferring the embryos to the uterus. This allows the embryologists to observe and select the healthiest embryos that are most likely to develop into blastocysyts. Our patient received progesterone medication and two weeks following the embryo transfer, the couple found out that they were pregnant! 

 On March 18, 2010 the couple returned for their first OB-Ultrasound which looks for the presence of a gestational sac and a heartbeat. They were thrilled to see not only one little heart beat, but two little hearts beating. The happy couple was very excited about the news of their twin pregnancy. During their visit they gave our staff a beautiful Phalaenopsis Orchid with a card that read:

“To Dr. Diaz and Staff, We are so grateful to you on finishing our family. Even during these tough weeks you have made us feel so secure. Thank you for everything you and your staff have done for us.”  

Dr. David Diaz and West Coast Fertility Centers extend our warmest wishes and appreciation to the proud couple for their thoughtful gift and kind words to our staff. We wish you the best on your new and long awaited journey of parenthood!

 
The beautiful orchid sent by the happy couple to our office as a sign of gratitude for their achieved pregnancy.
Thank you for your thoughtful gift, we wish you the best!
Dr. Diaz and the Staff at West Coast Fertility Centers.