Mon, 26 Jun 1995

New Downs's test before pregnancy

ILLINOIS (UPI): In what they are calling a medical first, researchers at Illinois Masonic Medical Center say they can now determine if a woman will have a baby with Down syndrome before she gets pregnant.

Using a technique called polar body analysis, doctors said they can evaluate the genetic material of an egg prior to fertilization.

The hospital conducted a year-long clinical study involving more than 100 women -- several of whom delivered healthy babies and more than 20 others who are pregnant with no signs of Down syndrome.

Research findings are being published in the July issue of Human Reproduction and will be presented at a conference in Hamburg, Germany.

"For the first time, we know if a woman is going to have a baby with Down's before she's pregnant," said Dr. Yuri Verlinsky, director of the Reproductive Genetics Institute at Illinois Masonic. "This is our first breakthrough with regard to Down."

Down syndrome is a congenital malformation that causes mental retardation and is the most common chromosome abnormality. An individual with Down has a total of 47 chromosomes, rather than 46. In 95 percent of all cases, the extra chromosome originates with the egg, not the sperm.

During it's development, the egg extrudes a sac called the polar body. This sac provides a mirror image of the genetic content of the egg and powerful microscopic tools, aided by chromosome-specific probes, can determine if Down syndrome or other abnormalities are present.

"If DS is diagnosed, the egg is not fertilized and nothing will be transferred back," Verlinsky said.

All of the women who wish to use the procedure must go through in vitro fertilization. Polar body research is still in an experimental phase and in the future will likely cost between d2,000 and d2,500, in addition to other IVF charges.

The risk of having a baby with Down is one in 600 for all women. For women over the age of 34, the risk increase significantly.

A hospital spokeswoman said Illinois Masonic hopes to begin offering the procedure to the general public within a few months.