Genetic Time Bomb is Defused: Healthy Baby Girl is Born

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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.

Introducing Baby Ella

Special molecular probes were custom designed to identify the deadly gene sequence of Sly Syndrome which has an incidence rate of 1:250,000.

Brain and HK were referred to West Coast Fertility Centers where they 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, 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.

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.

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

“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.

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.

Save the Dates!
On September 1st, 2010, West Coast Fertility Centers will sponsor a unique educational seminar to educate and empower women on the topic of preserving their fertility. Whether for medical reasons or personal choice, women can learn how to liberate themselves from the biologic clock.

Seating is limited and reservations are strongly recommended.
Wednesday, September 1st, 2010 from 6-8 PM
West Coast Fertility Center
11160 Warner Avenue
Fountain Valley, CA 92708
(714) 513-1399

Dr. David Diaz will also host an informative webinar on How Can Egg Freezing Benefit You?
Wednesday, August 25th, 2010 at 5 PM (PST).
Please register for the webinar directly online by clicking here.

For additional information about Preimplantation Genetic Diagnosis (PGD), please visit

Contact: David Diaz, MD, FACOG or Antoine La, ELD (714) 513-1399    


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David Diaz, MD, FACOG and Antoine La, EL
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