Abstract

Current non-invasive prenatal testing (NIPT) methods for the detection of trisomy 21 (T21) are primarily based on next generation sequencing (NGS) strategies which are quite costly in clinical application and hence are limited to certain patient groups. Here we present data of a newly developed NIPT assay based on quantitative real-time PCR (qNIPT technology) for the determination of fetal trisomy 21 (qNIPT technology) from routine clinical diagnostic results > 10.000 samples with a sensitivity and specificity of the new assay of well over 99%. These results demonstrate the potential of the novel qNIPT technology to become the standard of care for NIPT concerning cost-efficiency and rapid turnaround time.