Preimplantation Genetic Diagnosis

Imagine being pregnant with a child you knew was born to die.

That’s exactly what happened to Amanda from Parsons Tennessee in 2003 when prenatal tests revealed that her 22-week-old fetus had a rare genetic disorder called cri-du-chat. Her daughter Hillary was born with severe physical and mental disabilities. Despite the loving attention of her parents and care of her doctors, Hillary lived just three and a half years.

The couple longed for another child but knew Hillary’s condition was genetic and could possibly strike again. “To have to endure what we did, to bury your own child, we couldn’t do that again,” Amanda says. When their doctor told them about a technique called preimplantation genetic diagnosis (PGD) that could ensure the disease wasn’t passed on to another child, they jumped at the chance, and welcomed baby Caroline a few weeks ago.

What Is PGD?

Preimplantation genetic diagnosis is the process of removing a single cell from an early stage embryo to determine whether it is healthy, or if the embryo contains genetic abnormalities that will result in either miscarriage or the birth of a baby with a serious, potentially deadly medical condition.

In the process, a woman undergoes in vitro fertilization (IVF) to create several embryos. Two or three days later, once the fertilized eggs grow to the eight-cell stage, specialists remove one cell from each embryo and analyze them for specific genetic mutations. Only normal embryos are selected to transfer back into the patient’s uterus for a chance to become pregnant with a healthy baby.

According to Dr. Christopher Williams, MD, medical director, co-director In Vitro Fertilization Program, Reproductive Medicine and Surgery Center of Virginia and author of The Fastest Way To Get Pregnant Naturally, “When screening for genetic diseases, PGD is 99.9 percent accurate.”

PGD costs between $3,000 to $5,000 and is added to the typical IVF fee of around $15,000. While some insurance plans and states offer IVF coverage, most people pay for PGD out of pocket. Reproductive endocrinologist and medical director of IVF1 Chicago, Randy S. Morris, MD, explains, “Most insurance companies still consider PGD to be experimental even though we have been doing it for more than 10 years.”