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Old test as good as new for Down syndrome

By Merritt McKinney

NEW YORK, Mar 03 (Reuters Health) -- Despite claims that blood tests are more effective at detecting Down syndrome during pregnancy, study results show that the traditional method of using a mother's age and routine ultrasound testing is just as effective.

Down syndrome is a disorder that causes mental retardation as well as physical abnormalities. Since women 35 and older are most likely to give birth to a baby with the condition, the traditional way to detect Down syndrome has been to consider a woman's age in combination with routine scans during pregnancy.

But since 1992, blood tests have been the preferred method for detecting Down syndrome in the womb, according to a report in the March 4th issue of the British Medical Journal. But there has been little evidence to back up the claim that blood, or serum, testing is more effective than using age and ultrasound results to predict the risk, according to the study's lead author.

"If you asked most obstetricians about the evidence for serum screening, I am sure that they would tell you that the case for its use was unassailable," Dr. David T. Howe, of the Princess Anne Hospital in Southampton, England, told Reuters Health. "In fact, there has never been a controlled study of its effectiveness anywhere in the world."

According to Howe, the blood test was adopted widely, despite its higher cost, based on the assumption that it could detect two-thirds of the cases of Down syndrome, while screening by maternal age would detect just one-third of cases.

These assumptions are false, according to Howe, since the current study shows that a woman's age and routine screening can detect about two-thirds of cases of Down syndrome.

In the study, Howe and his colleagues evaluated the effectiveness of screening by maternal age and ultrasound scanning in all women who gave birth at Princess Anne Hospital and its branches from 1993 to 1998. During that time, 31,259 babies were born, including 53 infants with Down syndrome. If something appeared out of the ordinary on the ultrasound, women were given the option of undergoing amniocentesis, a procedure that involves extracting fluid from the womb to test for abnormalities.

Overall, the traditional screening method detected 68% of cases of Down syndrome, considerably higher than the often cited 30% figure, according to the report.

"Our findings suggest that the advantages of serum screening are much less in current practice than were suggested in demonstration projects," the authors write.

The researchers do note, however, that blood testing may be more effective in younger women, although this needs to be proven. Although Howe and his colleagues conclude that it may be too late to stop the move towards blood testing for Down syndrome, they urge that any new screening methods should be put to the test in clinical trials before being adopted.


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