Genetic testing's promise, peril ...
Denver clinical trial is at the forefront of fertility science
By Allison Sherry, Denver Post Medical Writer, Tuesday, October 08, 2002

It had been 12 years of angst and tens of thousands of dollars of sacrifice when Stephanie Grikis threw up her hands, went back to school and told her husband, "Ugh, I am not made to be a parent."
She had been to fertility doctors. She had taken drugs and had surgery. They went on vacations. She had "relaxed." She had "not thought about it." She "de-stressed." Still, she wasn't pregnant.

But when Grikis heard about Dr. William Schoolcraft, she and her husband decided they had just enough money and just enough will to fly from their Texas home to Denver to see the nationally renowned fertility doctor. Through Schoolcraft, Grikis, 38, became one of the first participants in a clinical trial to see if genetic testing can all but promise that older women give birth to healthy babies.

Grikis was among the 20 percent of women in the country who have an uphill battle when trying to get pregnant - a problem that gets worse with age. What's more, the odds of miscarriage increase from about 15 percent for women under 30 to 40 percent for 40-year-olds. And according to the American Society for Reproductive Medicine, the risk of giving birth to a baby with Down syndrome or a handful of other chromosomal diseases is disproportionately higher for older mothers.

Schoolcraft, who runs the Colorado Center for Reproductive Medicine, is testing the 3-day-old embryos of 50 women over the age of 35 to see how many would miscarry or produce a baby with a serious birth defect. Another 50 women will not get their embryos tested.

Grikis had 16 embryos when she was done with the fertilization part of in vitro fertilization. Normally it is a gamble: a doctor injects two, maybe three, in the woman's uterus and hopes for the best. But Grikis had hers genetically tested. Every embryo has DNA that tells a story. Will this baby have Down syndrome? Will it miscarry?

Out of her 16 embryos fertilized, 13 had something wrong with them, embryologists found. Schoolcraft injected the three good ones into Grikis' uterus. One took. She is now into her second trimester.

Schoolcraft hopes to figure out whether testing embryos' DNA before they are transferred to the uterus actually reduces the chances of miscarriage or having a disabled baby.

"When you're older than 35, there is a risk of having a baby with a chromosomal abnormality," Schoolcraft said. "With this procedure, you're saying, 'Let's not wait until we're 16 weeks pregnant to find out what could be wrong.'"

Doctors have been doing preimplantation genetic diagnosis, or PGD, in Europe and the United States since 1989. But few women opt for the genetic tests because they carry a small risk that the delicate embryo will be destroyed in the process. It is still not as foolproof as an amniocentesis, performed on women at 16 or 17 weeks into pregnancy. And there is a hefty cost - the $3,000 on top of what in vitro usually costs, typically about $10,000.

That is why, despite the procedure's relative safety, PGD is still not mainstream. "We just can't say for certain yet that the risk is worth the cost," said John Stevens, the in vitro fertilization laboratory supervisor at the Colorado Center for Reproductive Medicine.

For women like Grikis, PGD testing seemed obvious. So many times, she and her husband had been through in-vitro, so many times it had failed.

But ethicists have reservations about the genetic screenings, mostly because the people who are tested pin so much hope and so much money to something that doesn't guarantee a "perfect baby," said Marilyn Coors, assistant professor of bioethics at the University of Colorado.

"Parents expect that the embryos will be perfect," she said. "They think they've paid for a perfect child and that may not be the case. What if you do (PGD) and the child isn't perfect in your eyes? There is no return, no reimbursements. ... This is a child, not a car."

Coors, who has led ethics seminars on her qualms about PGD, said many people in the disabled community are hurt by genetic screenings like this. "They feel like they're living a very full life with their disability," she said. "The message being sent from this is that your disability should be destroyed or eradicated."

Dr. Jacques Cohen, a fertility doctor in New Jersey, says the big drawbacks to the procedure now are that it isn't easy enough or cheap enough. Needling a microscopic cell out of a developed embryo is still too rudimentary for every day and every baby.

But if the clinical trial shows a decrease in miscarriages or the number of disabled babies born to women with fertility problems, doctors may strongly urge high-risk women to go through with it, Schoolcraft said.

Schoolcraft usually encourages women to spend the money on PGD when they already have one baby born with a problem. PGD would eliminate the risk of having another child with the same disease.

The genetic screening process reveals more than just whether a child would have a serious defect. Doctors also learn the child's sex, which poses another set of ethical difficulties.

Many doctors are uncomfortable knowing the sex of the baby before transplanting viable embryos into a woman's uterus, Stevens said.

"People come in here and say they have four boys and they want a girl," Stevens said. "We turn them away. ... That is not what we're here for."

Coors agrees.

"What would be a good reason for sex selection?" she asks. "It's about parental desire, and that's not what child rearing is about."

Cohen said that his clinic has not ever performed PGD for a couple just to determine the sex but that the doctors there had "never had a real debate about it."

Grikis will find out the sex of her baby in two weeks, when she goes in for an amniocentesis, though to her it doesn't matter.

"When the baby is born, they will never touch the floor," she said.