Embryo screening gives couples hope for healthy pregnancy

Five months into her first pregnancy, Christina Lee learned the baby she was carrying would not survive.

The baby girl had a rare chromosomal abnormality. And after she was delivered stillborn, a heartbroken Christina and her husband, Nathan, held the tiny infant for a moment, knowing there would be no diapers to change, no toddler to steady, no squealing child to push on the swing.

Ten weeks into her second pregnancy, Lee miscarried another baby with a chromosomal disorder.

"We were told by doctors that we were having bad luck," she told The Greenville News. "We weren't sure what was going on with us."

Chromosomal disorders are a major cause of miscarriage. So fearing future pregnancies would yield similar results, the Lees sought help from specialists.

And despite overwhelming odds, they are now the proud parents of 4-month-old Sadie Grace.

"We have a healthy, perfect baby," said Lee. "We couldn't be happier."

An evolving technology called PGS, or preimplantation genetic screening, is responsible for their success, said Dr. Paul Miller, a reproductive endocrinologist and medical director of the Fertility Center of the Carolinas.

"We take an embryo that is five days old and remove six to 10 cells from what we know is going to be the placenta," he said, "and then test them for all sorts of genetic abnormalities and the right number of chromosomes."

But first comes in vitro fertilization. With IVF, eggs are retrieved and fertilized in a petri dish, allowed to develop for five days, and then implanted in the mother. Because of PGS, only the normal embryos are implanted.

"It helps us identify which ones are developing along the right track," said William Roudebush, associate laboratory director. "Everything we do here — the air quality, high-tech instrumention — is to optimize the pregnancy potential."

Though Lee had her procedure at the center's old location in Greenville Health System's outpatient surgery unit, the center opens in new digs at the Memorial Medical Office Building next week.

The new $1 million space spans 3,000 square feet and is outfitted with the latest equipment, including micro-manipulation tables where embryologists clad in sterile suits unite egg and sperm using microscopes that allow for 400 times magnification. The tables also sport shock absorbers to reduce vibration and joysticks that enable manipulation of objects in increments of microns, or a millionth of a meter, Miller said, adding the egg itself measures about 0.1 millimeter.

The embryos are stored in liquid nitrogen in tanks at minus 196 degrees, said chief embryologist Jane Johnson, and everything is labeled and color coded to ensure security.

The lab also features positive air pressure as well as ULPA, or ultra-low penetration air filtration, Miller said. An adjacent procedure room is outfitted with a special air-lock window for passing the embryo through to the lab once it's been retrieved, he said. And the space, which is dedicated for infertile couples, also has a waiting room, consultation room and a pre- and post-op area.

More babies were born via IVF in 2012 than ever before, accounting for 1.5 percent of all births in the U.S., according to a new report from the Society for Assisted Reproductive Technology. Of the 165,172 procedures performed came 61,740 babies, about 2,000 more than in 2011, the society reports.

While helping infertile couples become parents, PGS also has raised concerns in some corners about the potential for abuse, for example, gender selection.

But using PGS for gender selection is considered unethical by the American Society of Reproductive Medicine and is not performed at GHS's center, which will do 125 IVF cases this year, with an ultimate goal of reaching 200, Miller said.

Nationally, the success rate is about 47 percent for women under 35, and it declines with maternal age from about 38 percent for women between 35 and 37 to about 9 percent for women over 42, according to SART.

Lee, 33, said she and her husband feared that all their embryos would be abnormal, but they went ahead with the screening.

"In a way, we just needed to know," she said. "If they were all abnormal, we knew our journey was over and we would move on to adoption."

And of the 10 embryos retrieved, just three were normal, she said. The others had multiple problems ranging from too many chromosomes to missing chromosomes. It's not known why.

"If we did IVF without that testing, with 10 or more embryos, we could have just kept going and transferred an embryo and had a miscarriage how many times," she said. "And I could have been another five or six months months along with same outcome. This is definitely a blessing."

The Lees, who now live in Richmond, Va., had two of the three embryos implanted, resulting in the birth of Sadie Grace. They plan to have the remaining embryo implanted in the next year or so, she said.

"It is a very rewarding experience to be able to assist a couple in achieving their dream of having children," said Dr. Creighton Likes III, director of IVF and Lee's physician. "When a couple has had such a difficult road toward that dream, it makes it that much more rewarding."

The PGS test is $4,500 in addition to IVF, which runs about $11,500, Miller said. A growing number of insurance companies pay for IVF, and some are paying for PGS now too, he said.

PGS is performed on about 15 percent to 20 percent of people having IVF — those with a history of recurrent miscarriage, women over 35 and couples with known genetic abnormalities, Miller said. But it may someday be done on everyone having IVF, he said.

"We have patients who scrimp and save to pay for their one IVF shot and we have tended to put back more than one embryo to ensure a good pregnancy rate," he said. "But if we know we have a good embryo, we can put just one back."