New DNA Screen Improves Accuracy of Diagnosis of Down Syndrome

A new study published in the New England Journal of Medicine reports that a genetic screening developed by Illumina Inc for Down syndrome and Edwards syndrome led to more accurate diagnosis of the conditions compared to traditional techniques.

Researchers tested the effectiveness of the screening, called the cell-free DNA testing, on 1,914 women and found that it returned significantly lower false positives compared to traditional testing.

The company-funded study suggested that it could support the expansion of the screening to expectant mothers beyond only those considered at high risk for having babies with Down and Edwards syndromes.

"The major advantage of using cfDNA testing was the reduction in rates of false positive results. The findings suggest that cfDNA testing merits serious consideration as a primary screening method for fetal autosomal aneuploidy", lead researcher Diana Bianchi of Tufts Medical Center in Boston said.


Source: Medindia