May 10, 2010

Testing Embryos For Disease Becomes More Common

HIGHLANDS RANCH, Colo. — What if a single test could eradicate horrible diseases — diseases that almost always kill children? The test is available and a Highlands Ranch couple used it to have children free of a fatal disease.

“I love them,” said Marla Marlow, smiling at her 11 day-old twins. “They’re great!”

Emi and Will are just getting settled in their new home and learning to love their parents. Soon they will learn they had an older brother and learn what their parents have done for them.

“All that seemed like a nightmare that it couldn’t be true,” said Marla.

On Jan. 25, 2008 Lee and Marla Marlow welcomed Jay to the world.

“He seemed very healthy, very laid back,” said Marla.

But soon they realized something was wrong.

“They call it the most common rare disease,” said Marla.

Jay had spinal muscular atrophy.

“To me it is a very cruel disease,” said Marla. “Just watching your child’s ability to move, breath, swallow go away.”

Exactly seven months after Jay entered the world, the disease took his life.

“It’s hard, even now to talk about it,” said Marla.

After Jay died, the Marlows found out both are carriers of a gene that causes spinal muscular atrophy. They wanted children, but the risk of having another baby with the disease was too high for them.

“We don’t want to put another baby through that,” said Lee.

They talked about adopting. Then they learned about preimplantation genetic diagnosis — a way to test an embryo for an indicated genetic disease or chromosome abnormalities prior to embryo transfer during in vitro fertilization.

“[We] can remove a few cells from the outside of the embryo which are placenta cells without touching the baby,” said Dr. William Schoolcraft, a fertility specialist with Colorado Center for Reproductive Medicine.

The cells are tested for chromosomal abnormalities as well as specific genetic disease that families might be carriers of, such as SMA. It’s very similar to an amniocentesis which pregnant women have around 16 weeks, but much earlier.

“Now we are offering screening to couples before they get pregnant,” said Schoolcraft.

Schoolcraft has done comprehensive chromosome screening with more than 100 now healthy babies. The Marlow’s were one of his first patients who had embryos tested for SMA.

Schoolcraft found three embryos that were free of the disease and implanted them in Marla. Two took.

“In a perfect world it would be ideal for all couples to be screened before conception,” said Schoolcraft. “The tests unfortunately are expensive and insurance does not pay for them.”

But not everyone believes preimplantation genetic testing is a good thing. The pro-life movement believes this is another form of abortion — that embryos not transferred are babies that are killed.

“This is not designer babies,” said Schoolcraft. “This is not about athleticism or intelligence or beauty, this is about a lethal disorder.”

“If all these people that knew they were carriers of this SMA gene could actually have their embryos tested before they were implanted, how long would it really take to wipe out this disease?” said Marla.

There are more than 100 deadly genetic disorders that can be screened for if there is an indication for a specific genetic disease. Schoolcraft said the more couples that have this testing done, the fewer babies are born with fatal diseases. He says even cases of breast cancer could be reduced because an embryo can be screened for the BRCA gene.

“There is a thought that couples someday will elect not to reproduce the natural way,” said Schoolcraft. “That they will want to have IVF, even if they are fertile to have their embryos prescreened for lethal disorders.”

The Marlows are grateful for the ability to have their embryos screened.

“It is great that we can do this,” said Lee.

Now they have two beautiful, healthy children.

“But we still miss Jay,” said Marla.

And Jay will always have a place in their hearts, but because of science they won’t have to suffer that heartache again.

Source: ABC 7 News

Dayle Cedars, 7News Reporter

ABC 7 News