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Non-invasive Screening in Early Pregnancy Halves Down's Syndrome Births

A recent research has found that non-invasive screening in early pregnancy reduces Down's syndrome births by 50 percent. Professor Karen Brndum-Nielsen, of the Kennedy Institute, Glostrup, Denmark, has demonstrated that non-invasive screening of pregnant women with ultrasound early in pregnancy, combined with maternal blood analysis, has reduced the number of children born in Denmark with Down Syndrome by 50 percent.

Professor Brndum-Nielsen also explained that another advantage of the introduction of this practice in her country was a plunge in the number of invasive pre-natal diagnostic procedures from 11 percent to approx. 6 percent of pregnancies.

In September 2004, the National Board of Health in Denmark recommended new guidelines for prenatal diagnosis. "Previously this was restricted to pregnant women over 35 years of age, but since the implementation of the new guidelines it has been available to any woman who wants it," Professor Brndum-Nielsen said.

The women were offered a measurement of nuchal translucency in the fetus by ultrasound. This test looks at thickness of the black space (fluid) in the neck area of the fetus. If there is more than the normal amount of fluid the risk of Down syndrome is increased. Likewise if there is a certain combination of serum markers in the maternal blood test, taken at the same time, there is the possibility of an increased risk of a chromosomal abnormality. The combined screening is carried out at 11 to 14 weeks of gestation.

Professor Brndum-Nielsen and her team looked at the effects of the new guidelines in 2004, 2005, and 2006, in 3 counties in Denmark with a total population of 1.1 million inhabitants, or about one-fifth of the population of the country. They compared these findings with national figures obtained from the Central Cytogenetic Registry, which confirmed the reduction in invasive procedures and the number of children born with Down syndrome at nati
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