Detecting Down Syndrome Risk, the risk of a fetus having chromosomal abnormalities that cause Down syndrome, and a genetic disorder known as Edwards syndrome, can now be almost precisely be identified by using a noninvasive test on maternal blood that involves a novel biochemical assay and a new algorithm for analysis.
Diagnosing fetal chromosomal abnormalities, or aneuploidies, requires invasive tests that consist of chorionic villous sampling or amniocentesis in pregnancies that are known to be of high-risk, and even though these tests are accurate, they are costly and carry a risk of miscarriage.
In an associated study, researchers from the Harris Birthright Research Centre for Fetal Medicine at Kings College Hospital in London and the University College London Hospital provided 400 maternal plasma samples to Aria for a DANSR analysis with the FORTE algorithm. All subjects were at risk for aneuploidies and had been tested by chorionic villous sampling.
According to the analysis results, all cases of T21 and 98% of T18 cases from euploid pregnancies were identified, showing that all cases of T21 had an estimated risk for this aneuploidy of ≥ 99%, whilst all normal pregnancies and those with T18 had a risk score for T21 of ≤ 0.01%.
