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 selected from singleton pregnancies.

Method: Cell free DNA was prepared and analysed using new T21 qPCR assay. Results of qPCR based technique were compared with those from NGS procedure.

Result: The study demonstrates clearly that the accuracy of the new qPCR-based PrenaTest® is superior to the accuracy of the combined test and comparable to the performance of current NIPT based on NGS or microarrays.

Conclusion: Our results suggest that the newly developed T21 qPCR assay is a very reliable and robust method suitable for NIPT in clinical routine. While qPCR also presents a more cost-efficient solution over NGS testing, the new assay will also be able to provide results in 72 hours or less. As a consequence, this novel T21 qPCR assay could have the potential to become a NIPT solution on a global basis.