Genetic screening helps couples conceive healthy babies

Healthline: February 24
Published: Feb. 25, 2015 at 2:23 PM CST
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Sarah Bergeron and Dr. John Storment sit with Leighton Rose
Sarah Bergeron and Dr. John Storment sit with Leighton Rose

A breakthrough in reproductive medicine is changing lives in a huge way for couples trying to have healthy children. An advanced type of genetic screening gives the ability to stop disease before it even starts.

One of Sarah Bergeron's favorite books to read to her daughter is about heaven. At just 1-year-old, Leighton Rose may be too young to understand, but she's learning that's where her brother lives.

"I remember vividly my husband saying, 'Lethal, what does that mean,' and being told that there was no possibility of life," Bergeron recalled.

After two years of trying for a child, Bergeron and husband Brent got only seven hours with baby Braxton in August 2012. He suffered from severe brittle bone disease. Turns out both parents are carriers of the gene, and any future children would have a one in four chance of getting the same disease.

Determined to have a healthy baby, the Bergeron's turned to Dr. John Storment, medical director at Fertility Answers.

"The technology in the last two years has become amazingly precise and accurate," he said.

Storment offers PGD, or pre-implantation genetic diagnosis. It's an extra step added to in vitro fertilization that tests embryos for a specific genetic abnormality, like brittle bone disease. Of the six embryos Bergeron had tested, three carried the disease and three were deemed viable. Two were implanted, and one became little Leighton.


ive years ago the technology was about 80 - 85% accurate," Storment said. "Now we can tell you within 99% certainty that this embryo is normal. That's a home run, that's huge."

Genetic diagnosis works on virtually any condition known to be caused by a specific gene, like cystic fibrosis, sickle cell or Tay-Sachs disease.

PGS, or pre-implantation genetic screening looks at the number of chromosomes in the embryo. For example, one chromosome too many causes Down syndrome. One too few causes Turner syndrome.

Storment predicts the number of twins and high-risk pregnancies will drop as the testing becomes more affordable. It currently costs around $4,000 on top of the costs of IVF, usually around $10,000 to $15,000.

Genetic screening and diagnosis follows strict ethical guidelines. In Louisiana it's against the law to discard any viable embryos.

"We're not screening for brown hair and blue eyes," Storment explained. "We're not screening for the ability to have an incredibly healthy life and never have disease."

Gender selection is also off-limits. The only goal is to decrease disease while giving couples the gift of life.

"I can't even begin to say the blessing," Bergeron said through tears. "We don't take anything for granted. I try and explain to other parents, those days when you're in the car and your child is screaming, or the little things that you just want to pull your hair out, those things, all we can do is laugh about it. We wanted that."

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