Couple becomes first to receive genetic screening of embryos at UI Hospitals and Clinics

 "The in-vitro procedure has definitely been worth it. Christopher has been a blessing and a joy in our lives, especially now that he's through the colic!"

--Corey Stone

Christopher Thomas Stone may not realize it yet, but when he's old enough, he'll have quite a story to tell.

With the help of specialists in reproductive endocrinology and infertility at University of Iowa Hospitals and Clinics, Christopher was born March 28, 2003, showing no signs of the genetic mutation that had seriously affected both of his parents' families.

Growing up, Christopher's parents, Corey and Nami Stone of Coralville, Iowa, had each lost a sibling to spinal muscular atrophy, a genetic disease that affects cells in the spinal cord and can interfere with the muscles involved in walking, head and neck control, and swallowing. Corey's younger sister lived just two weeks, while Nami's older brother lived until he was 16.

When the Stones decided to start a family, they were tested and learned that they were both carriers of the genetic defect that leads to spinal muscular atrophy. Learning this meant that they now faced the challenge of how to start their family.

"We made the decision to try naturally," said Nami, even though they had a one-in-four chance of giving birth to a child who would be affected by the disorder. "We knew that we wouldn't terminate a pregnancy because of the disease."

After two years of trying naturally, the Stones faced a new challenge--infertility. Mia Clevenger-Hoeft, M.D., Nami's obstetrician with Obstetric & Gynecologic Associates of Iowa City, soon referred the couple to the infertility team at UI Hospitals and Clinics.

The Stones presented an unusual challenge. "They were at high risk for serious genetic disease and were also infertile," said Brad Van Voorhis, M.D. Because of this, Van Voorhis, along with Craig Syrop, M.D., and Amy Sparks, Ph.D., suggested the Stones try a new procedure, pre-implantation genetic diagnosis (PGD).

Introduced in the early 1990s, PGD evaluates the embryos used in in vitro fertilization. Before implantation in the uterus, specialists remove one or two cells from the newly-formed embryos and analyze them for genetic mutations such as cystic fibrosis, Tay-Sachs, and spinal muscular atrophy. Embryos that do not carry the genetic mutation are then implanted in the uterus. In the past decade, nearly 1,000 babies around the world have been born following PGD.

"As long as we had to do in vitro fertilization, they were the ideal couple to perform PGD as well," said Van Voorhis. The Stones agreed, especially since they could be treated so close to home.

Once Corey and Nami were able to provide sperm and eggs for the procedure, the remainder of the process was completed over a seven-day span. Embryologists in the In Vitro Fertilization and Reproductive Testing Laboratories combined Corey's sperm with Nami's eggs to form embryos.

Sparks then sent biopsies of the embryos to a laboratory that specializes in determining which embryos are affected by the spinal muscular atrophy mutation. Two unaffected embryos were transferred into Nami last July. Christopher's birth occurred nine months later, after one embryo was successfully implanted.

"We're lucky," said Nami. "A lot of people don't know that they are carriers and cannot identify the defect."

As the knowledge of genetic diseases continues to grow, PGD presents intriguing possibilities for the future. "We're learning more about genetic history and testing than ever before," said Sparks.

For more information, patients and families should contact UI Health Access and ask for the Department of Obstetrics and Gynecology. Physicians seeking consultation or referral should call UI Consult.