Defusing the Genetic Time Bomb

The Story: 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. At West Coast, they met with Dr. David Diaz, who directs the Center’s Assisted Reproductive Technology program.

The Nightmare: Dr. Diaz carefully reviewed the couple’s 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 to deadliest 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 DNA which are passed from parents to their children, carrying 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 mixture of offspring that may also be carriers or they may manifest the deadliest form of the disease.

The Solution: 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 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 combining the probes with the embryos, the Center identified the abnormal embryos from the healthy ones. After two embryos were placed in her uterus, HK and Brian left overseas to begin their work as teachers.

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 to build 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 dad contacted the West Coast Fertility team to share their joy and express their gratitude.

“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

More information about PGD can be found at www.ivfbaby.com