PGD tests can prevent future generations from hereditary diseases

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by JIM BERGAMO / KVUE News and photojournalist MICHAEL MOORE

khou.com

Posted on February 11, 2014 at 2:13 PM

AUSTIN -- One Austin couple made sure their firstborn would not succumb to a certain genetic disease.

"I wasn’t going to put my child through that," said Monti Pal, who carries a rare genetic disease. "I wasn’t going to put us through that."

Pal is referring to X-linked Hyper IGM, a rare genetic disease that affects the immune system. It’s almost always fatal in males. She lost two infant brothers to the disease, but a third brother, Trishul, made it to age 22.

"Watching my brother get sick, that was really tough," said Pal, fighting back tears. "He was my baby brother, so we didn’t want to go through that. I definitely didn’t want to put my child through that."

Doctors tested Pal 15 years ago and learned she's a carrier of the mutation that appears on the X chromosomes.

"Since the mother has two X chromosomes, one with the gene and one without, she’ll pass that on to 50 percent of her children," said Lisa Hansard, M.D., a fertility specialist with Texas Fertility Center. "Half of the boys will have the disease that will be fatal, and half of the girls will be carriers."
  
Pal learned about a PGD, or preimplantation genetic diagnosis. Video shows how a single cell can be removed from an embryo to be tested.
 
"All the cells have the exact same signal and genetic and chromosomal makeup," said Hansard.

Chromosomes are examined to determine if any specific disease or a chromosomal abnormality exists. The process takes just a couple of days. Pal had a normal male embryo implanted and is now 15 weeks pregnant.

"You just feel good about your decision," Pal said. "You feel you did the right thing."

"It's the right thing for your next generation," said Rob Janca, Pal’s husband. "We’re just trying not to pass on something that can be so devastating to our children."

The PGD test is said to be about 95 percent accurate. Doctors will draw fluid from Pal's womb later during her pregnancy to confirm her son is indeed free of the disorder. 

Go here for more information on the PGD test or Texas Fertility Center.


 

 

 

 

 

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