A Utah doctor has pioneered a technique for safely determining whether an unborn child carries the genetic burden of Down syndrome.

Down syndrome is a frequently severe form of mental retardation. Often accompanied by physical debilities, it is often linked to the age of the mother. The older the woman, the more likely she is to have a Down syndrome child.Because Down syndrome is one of the great tragedies that can strike a family, many pregnant women want to know whether their unborn children have the disorder. But until now some - even high-risk women in their 40s - were reluctant to use the only technique that could give them answers.

That technique was amniocentesis, in which a hollow needle is used to draw out amniotic fluid for analysis. However, amniocentesis can cause miscarriages.

But now Dr. Greggory R. DeVore and an associate, Dr. Omar Alfi, have developed an ultrasound technique that allows doctors to determine whether a fetus has Down syndrome. Ultrasound is a noninvasive technique that uses sound waves to produce a picture of a fetus.

An article published Wednesday in the medical journal Obstetrics & Gynecology, written by DeVore and Alfi, describes the new color Doppler ultrasound.

"In the United States, between 30 and 40 percent of patients who are at risk are fearful of amniocentesis," said DeVore, who has a medical practice in Salt Lake City as well as in Pasadena and Tarzana, Calif.

"They don't have it done . . . They are very anxious and very concerned."

In their study, DeVore and Alfi discovered that they could detect 87 percent of Down syndrome among fetuses examined. The study was carried out in 1991, and the results are almost as good as those for amniocentesis, which detects virtually all Down abnormalities.

"The good news is . . . in our most recent data, our identification rate for Down syndrome is 96 percent," DeVore told the Deseret News in a telephone interview. The reason for the change is that the researchers have been able to increase the sensitivity of their instruments.

What is it about the Down's fetus that can show up on an ultrasound view as different from a normal fetus? "The heart is the key thing," he said. About 60 percent of Down syndrome children have heart defects. The color Doppler ultrasound shows the heart in great detail.

"It shows us the blood flowing through the heart chambers, in color," he said.

When this abnormality is combined with other physical differences caused by Down syndrome, the detection rate is exceptionably high.

"We've been making this available to patients for the last two years," he said. But DeVore and Alfi haven't made their findings public until now, with the article in the journal.

To illustrate the benefits of color Doppler ultrasound, DeVore drafted a chart focusing on Utah. About 40,000 children are born in the state every year, according to the chart.

The American College of Obstetricians and Gynecologists recommends that all patients who are 35 or older and who are pregnant should have tests to see whether the fetus is normal, he said.

But amniocentesis causes about 1 in 100 patients to have miscarriages, he said.

Every year about 10 percent of Utah women who are pregnant - or 4,000 women - are 35 or older, he said. If all of them have amniocentesis, he would expect 40 miscarriages.

In addition, the cost of amniocentesis for the 4,000 women would be $4.8 million.

But if a woman is screened first by color Doppler ultrasound, and then has amniocentesis if the ultrasound is abnormal, only about 520 women would need the more invasive method.

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Only about five miscarriages would occur, and the cost for testing all 4,000 women would be only $1.8 million, he said.

"You'd end up saving 62 percent of the dollars spent for prenatal diagnosis . . . You'd see a tremendous savings in lives and dollars."

Since the difference in death of normal fetuses would be 35 per year, DeVore compared this to saving a bus full of children yearly.

Obstetrics & Gynecology is published by the American College of Obstetricians and Gynecologists. The article is in the March edition of the journal.

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