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

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.

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