Taking NIPT to the next level: detection of fetal trisomy 21 based on quantitative real-time PCR

Objective: 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 describe the results of a comparative study with the aim to validate the diagnostic accuracy of a newly developed NIPT assay based on quantitative real-time PCR for the determination of fetal trisomy 21 (T21 qPCR assay) in comparison to results of PrenaTest® based on NGS. Material: In the study, close to 750 maternal blood samples were selecte…