DNA-based Down syndrome test diagnostic data

A blinded, prospective study of 449 blood samples from pregnant women at a high-risk for fetal chromosomal aneuploidy showed that Sequenom's DNA-based prenatal Down syndrome test had 99.7% specificity and 100% sensitivity for detecting fetal trisomy 21. The prospective study was performed using the GAIIx sequencer from Illumina Inc. (NASDAQ:ILMN, San Diego, Calif.). Sequenom said it expects to complete a validation study of a Down syndrome assay using the more advanced HiSeq2000 sequencer from Illumina this year. Data were published in the American Journal of Obstetrics and Gynecology. ...