Noninvasive method accurately and efficiently detects risk of Down syndrome

A  noninvasive maternal blood test, an alternative to amneocentesis, deploys a novel biochemical assay and a new algorithm for analysis. Using these tools, scientists can detect, with a high degree of accuracy, the risk that a fetus has the chromosomal abnormalities that cause Down syndrome and a genetic disorder known as Edwards syndrome, according to the American Journal of Obstetrics and Gynecology. The test is a directed noninvasive approach to cell-free DNA (cfDNA) analysis in maternal blood. It utilizes new technology which couples innovative biochemistry, and a proprietary algorithm, to efficiently analyze patients’ blood samples. The new approach is more scalable than other recently developed genetic screening tests and has the potential to reduce unnecessary amniocentesis or CVS. Diagnosis of fetal chromosomal abnormalities, or aneuploidies, relies on invasive testing by chorionic villous sampling or amniocentesis in pregnancies identified as high-risk.