Comparison of performances between NIPT platforms for screening of common fetal trisomies by cell-free DNA

Abstract

The non-invasive prenatal test (NIPT) has the advantages of high detection rate for common fetal trisomies and low false positive rate. However, high cost, complexity and time-consuming process is limiting universal screening using next generation sequencing (NGS)-based NIPT for all pregnant women. Recently, new technology using peptide nucleic acid (PNA) probe-based real time-polymerase chain reaction (RT-PCR) for screening of fetal trisomies was developed. The objective of this study was to compare the performances between the RT-PCR-based NIPT and NGS-based NIPT for screening of common fetal trisomies. Stored maternal plasma aliquots were used for this study. Both NIPTs using PNA probe-based RT-PCR and NGS were tested to evaluate the risk of common trisomies in blind samples. The gold standards for fetal karyotyping were invasive test results or clinical examination at birth. RT-PCR was performed using Patio™ NIPT Detection Kit and NGS was performed using Faest™ NIPT Detection Kit. 739 plasma samples from pregnant women including 5 cases with trisomy 21 and one case with trisomy 13 were used. Detection rates and false positive rates were not statistically different between two types of NIPTs. Both RT-PCR-based NIPT and NGS-based NIPT showed 100% sensitivity, and 100% specificity for the identification of fetal trisomy 21 and trisomy 13. The RT-PCR-based NIPT and NGS-based NIPT showed equivalent and excellent clinical performances.